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    MBNL1 muscleblind like splicing regulator 1 [ Homo sapiens (human) ]

    Gene ID: 4154, updated on 3-Dec-2024

    Summary

    Official Symbol
    MBNL1provided by HGNC
    Official Full Name
    muscleblind like splicing regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:6923
    See related
    Ensembl:ENSG00000152601 MIM:606516; AllianceGenome:HGNC:6923
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EXP; MBNL
    Summary
    This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]
    Expression
    Ubiquitous expression in lymph node (RPKM 38.9), appendix (RPKM 34.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MBNL1 in Genome Data Viewer
    Location:
    3q25.1-q25.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (152243632..152465780)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (155011321..155233681)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (151961421..152183569)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20703 Neighboring gene long intergenic non-protein coding RNA 2917 Neighboring gene uncharacterized LOC101928166 Neighboring gene Sharpr-MPRA regulatory region 12239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20705 Neighboring gene NANOG hESC enhancer GRCh37_chr3:151978898-151979587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:151986764-151987605 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:151985921-151986763 Neighboring gene MBNL1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20708 Neighboring gene transmembrane protein 14E, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr3:152202190-152202395 Neighboring gene uncharacterized LOC105374163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20709 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:152314625-152315295 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:152320355-152321049 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:152321050-152321743 Neighboring gene uncharacterized LOC102724289

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0428, DKFZp686P06174

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in embryonic limb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    muscleblind-like protein 1
    Names
    muscleblind-like
    triplet-expansion RNA-binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047058.1 RefSeqGene

      Range
      29609..226460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001314057.2NP_001300986.1  muscleblind-like protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AB007888, AC026347, BC050535, Y13829
      Consensus CDS
      CCDS82864.1
      UniProtKB/TrEMBL
      B4E233, Q86VM6
      Related
      ENSP00000419347.1, ENST00000493459.5
      Conserved Domains (1) summary
      smart00356
      Location:124148
      ZnF_C3H1; zinc finger
    2. NM_001363870.1NP_001350799.1  muscleblind-like protein 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS87156.1
      UniProtKB/TrEMBL
      C9JP00, H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    3. NM_001376818.1NP_001363747.1  muscleblind-like protein 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    4. NM_001376819.1NP_001363748.1  muscleblind-like protein 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    5. NM_001376820.1NP_001363749.1  muscleblind-like protein 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS93409.1
      UniProtKB/TrEMBL
      A0A0A0MQX8
      Related
      ENSP00000282488.8, ENST00000282488.11
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    6. NM_001376821.1NP_001363750.1  muscleblind-like protein 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS93409.1
      UniProtKB/TrEMBL
      A0A0A0MQX8
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    7. NM_001376822.1NP_001363751.1  muscleblind-like protein 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS93409.1
      UniProtKB/TrEMBL
      A0A0A0MQX8
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    8. NM_001376823.1NP_001363752.1  muscleblind-like protein 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS93409.1
      UniProtKB/TrEMBL
      A0A0A0MQX8
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    9. NM_001376824.1NP_001363753.1  muscleblind-like protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3165.1
      UniProtKB/Swiss-Prot
      E9PBW7, O43311, O43797, Q86UV8, Q86UV9, Q96P92, Q96RE3, Q9NR56
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    10. NM_001376825.1NP_001363754.1  muscleblind-like protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3165.1
      UniProtKB/Swiss-Prot
      E9PBW7, O43311, O43797, Q86UV8, Q86UV9, Q96P92, Q96RE3, Q9NR56
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    11. NM_001376826.1NP_001363755.1  muscleblind-like protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3163.1
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    12. NM_001376827.1NP_001363756.1  muscleblind-like protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3163.1
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    13. NM_001376828.1NP_001363757.1  muscleblind-like protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3163.1
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    14. NM_001376829.1NP_001363758.1  muscleblind-like protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3163.1
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    15. NM_001376830.1NP_001363759.1  muscleblind-like protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3164.1
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    16. NM_001376831.1NP_001363760.1  muscleblind-like protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3164.1
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    17. NM_001376832.1NP_001363761.1  muscleblind-like protein 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    18. NM_001376833.1NP_001363762.1  muscleblind-like protein 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS87156.1
      UniProtKB/TrEMBL
      C9JP00, H7C4T5
      Related
      ENSP00000420327.1, ENST00000498502.5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    19. NM_001376834.1NP_001363763.1  muscleblind-like protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3168.1
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    20. NM_001376835.1NP_001363764.1  muscleblind-like protein 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    21. NM_001376836.1NP_001363765.1  muscleblind-like protein 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4T5
      Related
      ENSP00000418109.1, ENST00000464596.5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    22. NM_001376837.1NP_001363766.1  muscleblind-like protein 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    23. NM_001376838.1NP_001363767.1  muscleblind-like protein 1 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:113137
      ZnF_C3H1; zinc finger
    24. NM_001376839.1NP_001363768.1  muscleblind-like protein 1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    25. NM_001376840.1NP_001363769.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    26. NM_001376841.1NP_001363770.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    27. NM_001376842.1NP_001363771.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    28. NM_001376843.1NP_001363772.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    29. NM_001376844.1NP_001363773.1  muscleblind-like protein 1 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    30. NM_001376845.1NP_001363774.1  muscleblind-like protein 1 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    31. NM_001376846.1NP_001363775.1  muscleblind-like protein 1 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    32. NM_001376847.1NP_001363776.1  muscleblind-like protein 1 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:6589
      ZnF_C3H1; zinc finger
    33. NM_001376848.1NP_001363777.1  muscleblind-like protein 1 isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    34. NM_001376849.1NP_001363778.1  muscleblind-like protein 1 isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4Y1
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    35. NM_001376851.1NP_001363780.1  muscleblind-like protein 1 isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4Y1
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    36. NM_001376853.1NP_001363782.1  muscleblind-like protein 1 isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:113137
      ZnF_C3H1; zinc finger
    37. NM_001387781.1NP_001374710.1  muscleblind-like protein 1 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    38. NM_001387782.1NP_001374711.1  muscleblind-like protein 1 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    39. NM_001387783.1NP_001374712.1  muscleblind-like protein 1 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    40. NM_001387784.1NP_001374713.1  muscleblind-like protein 1 isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    41. NM_001387785.1NP_001374714.1  muscleblind-like protein 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS93409.1
      UniProtKB/TrEMBL
      A0A0A0MQX8
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    42. NM_001387786.1NP_001374715.1  muscleblind-like protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3163.1
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    43. NM_001387787.1NP_001374716.1  muscleblind-like protein 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    44. NM_001387788.1NP_001374717.1  muscleblind-like protein 1 isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    45. NM_001387789.1NP_001374718.1  muscleblind-like protein 1 isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    46. NM_001387790.1NP_001374719.1  muscleblind-like protein 1 isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    47. NM_001387791.1NP_001374720.1  muscleblind-like protein 1 isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    48. NM_001387792.1NP_001374721.1  muscleblind-like protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3168.1
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    49. NM_001387793.1NP_001374722.1  muscleblind-like protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3168.1
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    50. NM_001387794.1NP_001374723.1  muscleblind-like protein 1 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:113137
      ZnF_C3H1; zinc finger
    51. NM_001387795.1NP_001374724.1  muscleblind-like protein 1 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:113137
      ZnF_C3H1; zinc finger
    52. NM_001387796.1NP_001374725.1  muscleblind-like protein 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    53. NM_001387797.1NP_001374726.1  muscleblind-like protein 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    54. NM_001387798.1NP_001374727.1  muscleblind-like protein 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    55. NM_001387799.1NP_001374728.1  muscleblind-like protein 1 isoform 29

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    56. NM_001387800.1NP_001374729.1  muscleblind-like protein 1 isoform 30

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:124148
      ZnF_C3H1; zinc finger
    57. NM_001387801.1NP_001374730.1  muscleblind-like protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3166.1
      Conserved Domains (1) summary
      smart00356
      Location:113137
      ZnF_C3H1; zinc finger
    58. NM_001387802.1NP_001374731.1  muscleblind-like protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3166.1
      Conserved Domains (1) summary
      smart00356
      Location:113137
      ZnF_C3H1; zinc finger
    59. NM_001387803.1NP_001374732.1  muscleblind-like protein 1 isoform 31

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    60. NM_001387804.1NP_001374733.1  muscleblind-like protein 1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    61. NM_001387805.1NP_001374734.1  muscleblind-like protein 1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    62. NM_001387806.1NP_001374735.1  muscleblind-like protein 1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    63. NM_001387807.1NP_001374736.1  muscleblind-like protein 1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    64. NM_001387808.1NP_001374737.1  muscleblind-like protein 1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    65. NM_001387809.1NP_001374738.1  muscleblind-like protein 1 isoform 32

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    66. NM_001387810.1NP_001374739.1  muscleblind-like protein 1 isoform 32

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    67. NM_001387811.1NP_001374740.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    68. NM_001387812.1NP_001374741.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    69. NM_001387813.1NP_001374742.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    70. NM_001387814.1NP_001374743.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    71. NM_001387815.1NP_001374744.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    72. NM_001387816.1NP_001374745.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    73. NM_001387817.1NP_001374746.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    74. NM_001387818.1NP_001374747.1  muscleblind-like protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    75. NM_001387819.1NP_001374748.1  muscleblind-like protein 1 isoform 33

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4T5
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    76. NM_001387820.1NP_001374749.1  muscleblind-like protein 1 isoform 34

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:113137
      ZnF_C3H1; zinc finger
    77. NM_001387821.1NP_001374750.1  muscleblind-like protein 1 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:6589
      ZnF_C3H1; zinc finger
    78. NM_001387822.1NP_001374751.1  muscleblind-like protein 1 isoform 35

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    79. NM_001387823.1NP_001374752.1  muscleblind-like protein 1 isoform 35

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    80. NM_001387824.1NP_001374753.1  muscleblind-like protein 1 isoform 35

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4E233
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    81. NM_001387825.1NP_001374754.1  muscleblind-like protein 1 isoform 36

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4Y1
      Related
      ENSP00000418508.1, ENST00000478535.1
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    82. NM_001387826.1NP_001374755.1  muscleblind-like protein 1 isoform 36

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      H7C4Y1
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    83. NM_001387827.1NP_001374756.1  muscleblind-like protein 1 isoform 37

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4DLS5
      Conserved Domains (1) summary
      smart00356
      Location:2145
      ZnF_C3H1; zinc finger
    84. NM_001387828.1NP_001374757.1  muscleblind-like protein 1 isoform 38

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4DLS5
      Conserved Domains (1) summary
      smart00356
      Location:2145
      ZnF_C3H1; zinc finger
    85. NM_001387829.1NP_001374758.1  muscleblind-like protein 1 isoform 38

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4DLS5
      Conserved Domains (1) summary
      smart00356
      Location:2145
      ZnF_C3H1; zinc finger
    86. NM_001387830.1NP_001374759.1  muscleblind-like protein 1 isoform 39

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    87. NM_001387831.1NP_001374760.1  muscleblind-like protein 1 isoform 40

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4DLS5
      Conserved Domains (1) summary
      smart00356
      Location:2145
      ZnF_C3H1; zinc finger
    88. NM_001387832.1NP_001374761.1  muscleblind-like protein 1 isoform 40

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4DLS5
      Conserved Domains (1) summary
      smart00356
      Location:2145
      ZnF_C3H1; zinc finger
    89. NM_001387833.1NP_001374762.1  muscleblind-like protein 1 isoform 40

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      UniProtKB/TrEMBL
      B4DLS5
      Conserved Domains (1) summary
      smart00356
      Location:2145
      ZnF_C3H1; zinc finger
    90. NM_001387834.1NP_001374763.1  muscleblind-like protein 1 isoform 41

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Conserved Domains (1) summary
      smart00356
      Location:931
      ZnF_C3H1; zinc finger
    91. NM_021038.5NP_066368.2  muscleblind-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_066368.2

      Status: REVIEWED

      Source sequence(s)
      AB007888, BC043493, Y13829
      Consensus CDS
      CCDS3163.1
      UniProtKB/TrEMBL
      H7C4T5
      Related
      ENSP00000319429.5, ENST00000324210.10
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    92. NM_207292.3NP_997175.1  muscleblind-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_997175.1

      Status: REVIEWED

      Source sequence(s)
      AB007888, AC106722, Y13829
      Consensus CDS
      CCDS3164.1
      UniProtKB/TrEMBL
      H7C4T5
      Related
      ENSP00000347637.2, ENST00000355460.6
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    93. NM_207293.2NP_997176.1  muscleblind-like protein 1 isoform 3

      See identical proteins and their annotated locations for NP_997176.1

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3165.1
      UniProtKB/Swiss-Prot
      E9PBW7, O43311, O43797, Q86UV8, Q86UV9, Q96P92, Q96RE3, Q9NR56
      UniProtKB/TrEMBL
      H7C4T5
      Related
      ENSP00000282486.6, ENST00000282486.10
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    94. NM_207294.2NP_997177.1  muscleblind-like protein 1 isoform 4

      See identical proteins and their annotated locations for NP_997177.1

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS54656.1
      UniProtKB/Swiss-Prot
      Q9NR56
      Related
      ENSP00000418427.1, ENST00000485910.5
      Conserved Domains (1) summary
      smart00356
      Location:113137
      ZnF_C3H1; zinc finger
    95. NM_207295.2NP_997178.1  muscleblind-like protein 1 isoform 5

      See identical proteins and their annotated locations for NP_997178.1

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3166.1
      UniProtKB/Swiss-Prot
      Q9NR56
      UniProtKB/TrEMBL
      Q86VM6
      Related
      ENSP00000437491.1, ENST00000545754.5
      Conserved Domains (1) summary
      smart00356
      Location:113137
      ZnF_C3H1; zinc finger
    96. NM_207296.2NP_997179.1  muscleblind-like protein 1 isoform 6

      See identical proteins and their annotated locations for NP_997179.1

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3167.1
      UniProtKB/Swiss-Prot
      Q9NR56
      UniProtKB/TrEMBL
      Q86VM6
      Related
      ENSP00000319374.5, ENST00000324196.9
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    97. NM_207297.2NP_997180.1  muscleblind-like protein 1 isoform 7

      See identical proteins and their annotated locations for NP_997180.1

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
      Consensus CDS
      CCDS3168.1
      UniProtKB/TrEMBL
      H7C4T5
      Related
      ENSP00000350064.3, ENST00000357472.7
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger

    RNA

    1. NR_164857.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    2. NR_164858.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    3. NR_164860.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    4. NR_164861.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    5. NR_164862.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    6. NR_164863.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    7. NR_164864.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    8. NR_164865.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    9. NR_170696.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    10. NR_170697.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    11. NR_170698.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    12. NR_170700.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    13. NR_170701.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    14. NR_170702.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722
    15. NR_170703.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026347, AC106722

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      152243632..152465780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448138.1XP_047304094.1  muscleblind-like protein 1 isoform X5

      UniProtKB/TrEMBL
      H7C4T5
    2. XM_047448135.1XP_047304091.1  muscleblind-like protein 1 isoform X3

      UniProtKB/Swiss-Prot
      E9PBW7, O43311, O43797, Q86UV8, Q86UV9, Q96P92, Q96RE3, Q9NR56
      UniProtKB/TrEMBL
      H7C4T5
    3. XM_047448136.1XP_047304092.1  muscleblind-like protein 1 isoform X4

      UniProtKB/TrEMBL
      H7C4T5
    4. XM_047448139.1XP_047304095.1  muscleblind-like protein 1 isoform X6

    5. XM_005247461.5XP_005247518.1  muscleblind-like protein 1 isoform X2

      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    6. XM_047448145.1XP_047304101.1  muscleblind-like protein 1 isoform X12

    7. XM_047448147.1XP_047304103.1  muscleblind-like protein 1 isoform X14

    8. XM_047448143.1XP_047304099.1  muscleblind-like protein 1 isoform X10

      UniProtKB/TrEMBL
      H7C4T5
    9. XM_047448140.1XP_047304096.1  muscleblind-like protein 1 isoform X7

      UniProtKB/TrEMBL
      B4E233
    10. XM_047448146.1XP_047304102.1  muscleblind-like protein 1 isoform X13

      UniProtKB/TrEMBL
      H7C4T5
    11. XM_047448148.1XP_047304104.1  muscleblind-like protein 1 isoform X15

    12. XM_047448149.1XP_047304105.1  muscleblind-like protein 1 isoform X16

      UniProtKB/TrEMBL
      B4DLS5
    13. XM_005247458.6XP_005247515.1  muscleblind-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005247515.1

      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    14. XM_047448137.1XP_047304093.1  muscleblind-like protein 1 isoform X5

      UniProtKB/TrEMBL
      H7C4T5
    15. XM_047448141.1XP_047304097.1  muscleblind-like protein 1 isoform X8

    16. XM_047448142.1XP_047304098.1  muscleblind-like protein 1 isoform X9

    17. XM_047448144.1XP_047304100.1  muscleblind-like protein 1 isoform X11

    RNA

    1. XR_007095679.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      155011321..155233681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346543.1XP_054202518.1  muscleblind-like protein 1 isoform X1

    2. XM_054346548.1XP_054202523.1  muscleblind-like protein 1 isoform X5

      UniProtKB/TrEMBL
      H7C4T5
    3. XM_054346545.1XP_054202520.1  muscleblind-like protein 1 isoform X3

      UniProtKB/Swiss-Prot
      E9PBW7, O43311, O43797, Q86UV8, Q86UV9, Q96P92, Q96RE3, Q9NR56
      UniProtKB/TrEMBL
      H7C4T5
    4. XM_054346546.1XP_054202521.1  muscleblind-like protein 1 isoform X4

      UniProtKB/TrEMBL
      H7C4T5
    5. XM_054346549.1XP_054202524.1  muscleblind-like protein 1 isoform X6

    6. XM_054346544.1XP_054202519.1  muscleblind-like protein 1 isoform X2

    7. XM_054346555.1XP_054202530.1  muscleblind-like protein 1 isoform X12

    8. XM_054346557.1XP_054202532.1  muscleblind-like protein 1 isoform X14

    9. XM_054346553.1XP_054202528.1  muscleblind-like protein 1 isoform X10

      UniProtKB/TrEMBL
      H7C4T5
    10. XM_054346550.1XP_054202525.1  muscleblind-like protein 1 isoform X7

      UniProtKB/TrEMBL
      B4E233
    11. XM_054346556.1XP_054202531.1  muscleblind-like protein 1 isoform X13

      UniProtKB/TrEMBL
      H7C4T5
    12. XM_054346558.1XP_054202533.1  muscleblind-like protein 1 isoform X15

    13. XM_054346559.1XP_054202534.1  muscleblind-like protein 1 isoform X16

      UniProtKB/TrEMBL
      B4DLS5
    14. XM_054346542.1XP_054202517.1  muscleblind-like protein 1 isoform X1

    15. XM_054346547.1XP_054202522.1  muscleblind-like protein 1 isoform X5

      UniProtKB/TrEMBL
      H7C4T5
    16. XM_054346551.1XP_054202526.1  muscleblind-like protein 1 isoform X8

    17. XM_054346552.1XP_054202527.1  muscleblind-like protein 1 isoform X9

    18. XM_054346554.1XP_054202529.1  muscleblind-like protein 1 isoform X11

    RNA

    1. XR_008486717.1 RNA Sequence