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    OBSL1 obscurin like cytoskeletal adaptor 1 [ Homo sapiens (human) ]

    Gene ID: 23363, updated on 3-Dec-2024

    Summary

    Official Symbol
    OBSL1provided by HGNC
    Official Full Name
    obscurin like cytoskeletal adaptor 1provided by HGNC
    Primary source
    HGNC:HGNC:29092
    See related
    Ensembl:ENSG00000124006 MIM:610991; AllianceGenome:HGNC:29092
    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
    Summary
    Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]
    Expression
    Broad expression in ovary (RPKM 37.4), testis (RPKM 15.3) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See OBSL1 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219547206..219571539, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (220034047..220056240, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220415450..220436261, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ASIC4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17154 Neighboring gene GATA motif-containing MPRA enhancer 279/280 Neighboring gene Sharpr-MPRA regulatory region 4906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220377201-220377842 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220379127-220379302 Neighboring gene acid sensing ion channel subunit family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220387632-220388132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220388133-220388633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220396965-220397562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402386-220402940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402941-220403496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12360 Neighboring gene chondroitin polymerizing factor Neighboring gene transmembrane protein 198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220417356-220417856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220417857-220418357 Neighboring gene microRNA 3132 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220422411-220422601 Neighboring gene Sharpr-MPRA regulatory region 8831 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220425347-220426210 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220429659-220430520 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220430521-220431382 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220431383-220432244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220434367-220435204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220435205-220436042 Neighboring gene Sharpr-MPRA regulatory region 8639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220441287-220441862 Neighboring gene inhibin subunit alpha Neighboring gene RN7SK pseudogene 213

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0657, MGC71026

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytoskeletal anchor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of 3M complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in M band TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in Z disc TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intercalated disc TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    obscurin-like protein 1
    Names
    obscurin like 1
    NP_001166879.1
    NP_001166902.1
    NP_056126.1
    XP_011509159.1
    XP_011509165.1
    XP_011509166.1
    XP_011509167.1
    XP_011509168.1
    XP_016859185.1
    XP_016859186.1
    XP_016859187.1
    XP_016859188.1
    XP_016859189.1
    XP_047299755.1
    XP_047299756.1
    XP_054197125.1
    XP_054197126.1
    XP_054197127.1
    XP_054197128.1
    XP_054197129.1
    XP_054197130.1
    XP_054197131.1
    XP_054197132.1
    XP_054197133.1
    XP_054197134.1
    XP_054197135.1
    XP_054197136.1

    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_016977.2 RefSeqGene

      Range
      5000..25811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001173408.2NP_001166879.1  obscurin-like protein 1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 1. The resulting isoform (3, also known as isoform B) is much shorter and has a different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AF035292, CK904385, DB475523, EF063638
      Consensus CDS
      CCDS54433.1
      UniProtKB/Swiss-Prot
      O75147
      Related
      ENSP00000362980.4, ENST00000373873.8
      Conserved Domains (5) summary
      smart00408
      Location:914971
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:134226
      IG; Immunoglobulin
      smart00410
      Location:18101
      IG_like; Immunoglobulin like
      cd00063
      Location:518602
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00096
      Location:3033
      Ig; Ig strand B [structural motif]
    2. NM_001173431.2NP_001166902.1  obscurin-like protein 1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' exons but has an alternate 3' sequence, as compared to variant 1. The resulting isoform (2, also known as isoform C) is shorter and has a different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC009955, AK023854, CK904385, DB475523, EF063637
      Consensus CDS
      CCDS63134.1
      UniProtKB/TrEMBL
      A6NN50
      Related
      ENSP00000474519.1, ENST00000603926.5
      Conserved Domains (4) summary
      smart00408
      Location:10991159
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:134226
      IG; Immunoglobulin
      smart00410
      Location:725802
      IG_like; Immunoglobulin like
      cd00063
      Location:518602
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    3. NM_015311.3NP_056126.1  obscurin-like protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_056126.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (1, also known as isoform A).
      Source sequence(s)
      CK904385, DB475523, EF063638, F30329
      Consensus CDS
      CCDS46520.1
      UniProtKB/Swiss-Prot
      A0A024R468, A4KVA4, A4KVA5, O75147, Q96IW3, S4R3M6
      UniProtKB/TrEMBL
      A6NN50
      Related
      ENSP00000385636.1, ENST00000404537.6
      Conserved Domains (9) summary
      cd00096
      Location:916984
      Ig; Immunoglobulin domain
      cd04979
      Location:11781267
      Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
      smart00408
      Location:142216
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:134226
      IG; Immunoglobulin
      smart00410
      Location:18151893
      IG_like; Immunoglobulin like
      cd00063
      Location:518602
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:13611444
      I-set; Immunoglobulin I-set domain
      pfam00047
      Location:13641430
      ig; Immunoglobulin domain
      cl11960
      Location:252336
      Ig; Immunoglobulin domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219547206..219571539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003700.2XP_016859189.1  obscurin-like protein 1 isoform X6

      UniProtKB/TrEMBL
      A6NN50
    2. XM_017003699.2XP_016859188.1  obscurin-like protein 1 isoform X4

      UniProtKB/TrEMBL
      A6NN50
    3. XM_017003698.2XP_016859187.1  obscurin-like protein 1 isoform X5

      UniProtKB/TrEMBL
      A6NN50
    4. XM_011510857.3XP_011509159.1  obscurin-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A6NN50
      Conserved Domains (9) summary
      cd00096
      Location:916984
      Ig; Immunoglobulin domain
      cd04979
      Location:11781267
      Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
      smart00408
      Location:142216
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:134226
      IG; Immunoglobulin
      smart00410
      Location:18151893
      IG_like; Immunoglobulin like
      cd00063
      Location:518602
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:13611444
      I-set; Immunoglobulin I-set domain
      pfam00047
      Location:13641430
      ig; Immunoglobulin domain
      cl11960
      Location:252336
      Ig; Immunoglobulin domain
    5. XM_017003697.3XP_016859186.1  obscurin-like protein 1 isoform X2

      UniProtKB/TrEMBL
      A6NN50
    6. XM_017003696.3XP_016859185.1  obscurin-like protein 1 isoform X3

      UniProtKB/TrEMBL
      A6NN50
    7. XM_011510863.4XP_011509165.1  obscurin-like protein 1 isoform X7

      UniProtKB/TrEMBL
      A6NN50
      Conserved Domains (9) summary
      cd00096
      Location:916984
      Ig; Immunoglobulin domain
      cd04979
      Location:11781267
      Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
      smart00408
      Location:142216
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:14561535
      IG; Immunoglobulin
      smart00410
      Location:134226
      IG_like; Immunoglobulin like
      cd00063
      Location:518602
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:13611444
      I-set; Immunoglobulin I-set domain
      pfam00047
      Location:13641430
      ig; Immunoglobulin domain
      cl11960
      Location:252336
      Ig; Immunoglobulin domain
    8. XM_011510865.3XP_011509167.1  obscurin-like protein 1 isoform X8

      See identical proteins and their annotated locations for XP_011509167.1

      Conserved Domains (8) summary
      cd00096
      Location:263333
      Ig; Immunoglobulin domain
      cd04979
      Location:11781267
      Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
      smart00408
      Location:142216
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:10051074
      IG; Immunoglobulin
      smart00410
      Location:134226
      IG_like; Immunoglobulin like
      cd00063
      Location:518602
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:342426
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:13641404
      Ig; Immunoglobulin domain
    9. XM_047443800.1XP_047299756.1  obscurin-like protein 1 isoform X11

    10. XM_011510866.3XP_011509168.1  obscurin-like protein 1 isoform X10

      Conserved Domains (8) summary
      cd00096
      Location:263333
      Ig; Immunoglobulin domain
      cd04979
      Location:10861175
      Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
      smart00408
      Location:142216
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:11901251
      IG; Immunoglobulin
      smart00410
      Location:134226
      IG_like; Immunoglobulin like
      cd00063
      Location:518602
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:342426
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:12721312
      Ig; Immunoglobulin domain
    11. XM_047443799.1XP_047299755.1  obscurin-like protein 1 isoform X9

    12. XM_011510864.3XP_011509166.1  obscurin-like protein 1 isoform X8

      See identical proteins and their annotated locations for XP_011509166.1

      Conserved Domains (8) summary
      cd00096
      Location:263333
      Ig; Immunoglobulin domain
      cd04979
      Location:11781267
      Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
      smart00408
      Location:142216
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:10051074
      IG; Immunoglobulin
      smart00410
      Location:134226
      IG_like; Immunoglobulin like
      cd00063
      Location:518602
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:342426
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:13641404
      Ig; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      220034047..220056240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341155.1XP_054197130.1  obscurin-like protein 1 isoform X6

      UniProtKB/TrEMBL
      A6NN50
    2. XM_054341153.1XP_054197128.1  obscurin-like protein 1 isoform X4

      UniProtKB/TrEMBL
      A6NN50
    3. XM_054341154.1XP_054197129.1  obscurin-like protein 1 isoform X5

      UniProtKB/TrEMBL
      A6NN50
    4. XM_054341150.1XP_054197125.1  obscurin-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A6NN50
    5. XM_054341151.1XP_054197126.1  obscurin-like protein 1 isoform X2

      UniProtKB/TrEMBL
      A6NN50
    6. XM_054341152.1XP_054197127.1  obscurin-like protein 1 isoform X3

      UniProtKB/TrEMBL
      A6NN50
    7. XM_054341156.1XP_054197131.1  obscurin-like protein 1 isoform X7

      UniProtKB/TrEMBL
      A6NN50
    8. XM_054341158.1XP_054197133.1  obscurin-like protein 1 isoform X8

    9. XM_054341161.1XP_054197136.1  obscurin-like protein 1 isoform X11

    10. XM_054341160.1XP_054197135.1  obscurin-like protein 1 isoform X10

    11. XM_054341159.1XP_054197134.1  obscurin-like protein 1 isoform X9

    12. XM_054341157.1XP_054197132.1  obscurin-like protein 1 isoform X8