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    RBMS3 RNA binding motif single stranded interacting protein 3 [ Homo sapiens (human) ]

    Gene ID: 27303, updated on 28-Oct-2024

    Summary

    Official Symbol
    RBMS3provided by HGNC
    Official Full Name
    RNA binding motif single stranded interacting protein 3provided by HGNC
    Primary source
    HGNC:HGNC:13427
    See related
    Ensembl:ENSG00000144642 MIM:605786; AllianceGenome:HGNC:13427
    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
    This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
    Expression
    Broad expression in thyroid (RPKM 7.8), fat (RPKM 6.1) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RBMS3 in Genome Data Viewer
    Location:
    3p24.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (29281071..30010395)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (29283417..30012800)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (29322562..30051886)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene mesoderm specific transcript pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19623 Neighboring gene RBMS3 antisense RNA 3 Neighboring gene ribosomal protein S12 pseudogene 5 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:29517169-29517848 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69111 Neighboring gene NANOG hESC enhancer GRCh37_chr3:29556777-29557394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:29618323-29618824 Neighboring gene RBMS3 antisense RNA 2 Neighboring gene MT-ND4L pseudogene 9 Neighboring gene NANOG hESC enhancer GRCh37_chr3:29910035-29910598 Neighboring gene uncharacterized LOC124906222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:30014055-30014647 Neighboring gene RBMS3 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:30100685-30101217 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69254 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:30125981-30126860 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:30126861-30127738 Neighboring gene uncharacterized LOC124906224 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69363 Neighboring gene uncharacterized LOC124909358 Neighboring gene small nucleolar RNA U3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
    EBI GWAS Catalog
    Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
    EBI GWAS Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog
    Genome-wide association scan of dental caries in the permanent dentition.
    EBI GWAS Catalog
    Genome-wide association with bone mass and geometry in the Framingham Heart Study.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36544

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA 3'-UTR AU-rich region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables poly(A) binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables poly(A) binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables poly(U) RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables poly(U) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of ribonucleoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    RNA-binding motif, single-stranded-interacting protein 3
    Names
    RNA binding motif, single stranded interacting protein
    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.

    mRNA and Protein(s)

    1. NM_001003792.3NP_001003792.1  RNA-binding motif, single-stranded-interacting protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001003792.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as DD23-S, lacks a 3 nt segment and an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 3 thus lacks an internal aa and an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC012262, AC021068, AC092795, AC097633, AC098650, AC099048, AK097311, AY236872, CA448021
      Consensus CDS
      CCDS33725.1
      UniProtKB/Swiss-Prot
      Q6XE24
      Related
      ENSP00000373276.2, ENST00000383766.6
      Conserved Domains (3) summary
      TIGR01628
      Location:60392
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12475
      Location:138225
      RRM2_RBMS3; RNA recognition motif 2 found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cl17169
      Location:56135
      RRM_SF; RNA recognition motif (RRM) superfamily
    2. NM_001003793.3NP_001003793.1  RNA-binding motif, single-stranded-interacting protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001003793.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as DD23-L, encodes the longest isoform (1).
      Source sequence(s)
      AC012262, AC097633, AK097311, AY236871, CA448021
      Consensus CDS
      CCDS33724.1
      UniProtKB/Swiss-Prot
      A8K9S4, B7ZL17, G5E9J9, O75876, Q17RI0, Q6XE23, Q6XE24
      Related
      ENSP00000373277.2, ENST00000383767.7
      Conserved Domains (2) summary
      cd12475
      Location:139226
      RRM2_RBMS3; RNA recognition motif 2 (RRM2) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cd12472
      Location:57136
      RRM1_RBMS3; RNA recognition motif 1 (RRM1) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
    3. NM_001177711.2NP_001171182.1  RNA-binding motif, single-stranded-interacting protein 3 isoform 5

      See identical proteins and their annotated locations for NP_001171182.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AC012262, AC097633, AC099048, AK097311, AK292789, CA448021
      Consensus CDS
      CCDS54558.1
      UniProtKB/Swiss-Prot
      Q6XE24
      Related
      ENSP00000397926.1, ENST00000452462.5
      Conserved Domains (3) summary
      TIGR01628
      Location:61394
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12475
      Location:139226
      RRM2_RBMS3; RNA recognition motif 2 (RRM2) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cd12472
      Location:57136
      RRM1_RBMS3; RNA recognition motif 1 (RRM1) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
    4. NM_001177712.2NP_001171183.1  RNA-binding motif, single-stranded-interacting protein 3 isoform 4

      See identical proteins and their annotated locations for NP_001171183.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and has multiple differences in the coding region, compared to variant 1. The encoded isoform (4) is shorter and lacks the last aa, compared to isoform 1.
      Source sequence(s)
      AC012262, AW779062, BC117315
      Consensus CDS
      CCDS54557.1
      UniProtKB/Swiss-Prot
      Q6XE24
      Related
      ENSP00000400519.1, ENST00000456853.1
      Conserved Domains (2) summary
      cd12475
      Location:139226
      RRM2_RBMS3; RNA recognition motif 2 (RRM2) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cd12472
      Location:57136
      RRM1_RBMS3; RNA recognition motif 1 (RRM1) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
    5. NM_001330696.1NP_001317625.1  RNA-binding motif, single-stranded-interacting protein 3 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 6, which is shorter by an amino acid, compared to isoform 1.
      Source sequence(s)
      AC012262, AC021068, AC092795, AC092796, AC097633, AC098650, AC099048, CA448021
      Consensus CDS
      CCDS87056.1
      UniProtKB/TrEMBL
      C9JIJ9
      Related
      ENSP00000395592.1, ENST00000434693.6
      Conserved Domains (2) summary
      cd12475
      Location:138225
      RRM2_RBMS3; RNA recognition motif 2 found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cl17169
      Location:56135
      RRM_SF; RNA recognition motif (RRM) superfamily
    6. NM_014483.4NP_055298.2  RNA-binding motif, single-stranded-interacting protein 3 isoform 2

      See identical proteins and their annotated locations for NP_055298.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal in-frame exon and the last 3' exon, but has an alternate 3' segment, as compared to variant 1. The encoded isoform 2 lacks an internal segment and the last aa, as compared to isoform 1.
      Source sequence(s)
      AC012262, AF023259, AW779062
      Consensus CDS
      CCDS33726.1
      UniProtKB/Swiss-Prot
      Q6XE24
      Related
      ENSP00000273139.9, ENST00000273139.13
      Conserved Domains (3) summary
      TIGR01628
      Location:61394
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12475
      Location:139226
      RRM2_RBMS3; RNA recognition motif 2 (RRM2) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cd12472
      Location:57136
      RRM1_RBMS3; RNA recognition motif 1 (RRM1) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)

    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
      29281071..30010395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265061.3XP_005265118.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X3

      See identical proteins and their annotated locations for XP_005265118.1

      Conserved Domains (3) summary
      cd12475
      Location:139226
      RRM2_RBMS3; RNA recognition motif 2 found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cl17169
      Location:57136
      RRM_SF; RNA recognition motif (RRM) superfamily
      cl25887
      Location:61393
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    2. XM_017006180.2XP_016861669.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X5

      Conserved Domains (3) summary
      TIGR01645
      Location:83374
      half-pint; poly-U binding splicing factor, half-pint family
      cd12475
      Location:139226
      RRM2_RBMS3; RNA recognition motif 2 (RRM2) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cd12472
      Location:57136
      RRM1_RBMS3; RNA recognition motif 1 (RRM1) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
    3. XM_017006179.2XP_016861668.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X2

      Conserved Domains (3) summary
      TIGR01628
      Location:60393
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12475
      Location:138225
      RRM2_RBMS3; RNA recognition motif 2 (RRM2) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cd12472
      Location:56135
      RRM1_RBMS3; RNA recognition motif 1 (RRM1) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
    4. XM_017006181.2XP_016861670.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X6

    5. XM_024453454.2XP_024309222.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X1

      Conserved Domains (2) summary
      cd12475
      Location:139226
      RRM2_RBMS3; RNA recognition motif 2 (RRM2) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cd12472
      Location:57136
      RRM1_RBMS3; RNA recognition motif 1 (RRM1) found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
    6. XM_005265062.2XP_005265119.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X4

      See identical proteins and their annotated locations for XP_005265119.1

      Conserved Domains (3) summary
      cd12475
      Location:139226
      RRM2_RBMS3; RNA recognition motif 2 found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
      cl17169
      Location:57136
      RRM_SF; RNA recognition motif (RRM) superfamily
      cl25887
      Location:61393
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    7. XM_047447976.1XP_047303932.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X7

    8. XM_005265063.3XP_005265120.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X7

      See identical proteins and their annotated locations for XP_005265120.1

      Conserved Domains (1) summary
      cd12475
      Location:44131
      RRM2_RBMS3; RNA recognition motif 2 found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)
    9. XM_005265065.6XP_005265122.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X8

      Conserved Domains (1) summary
      cd12475
      Location:30117
      RRM2_RBMS3; RNA recognition motif 2 found in vertebrate RNA-binding motif, single-stranded-interacting protein 3 (RBMS3)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      29283417..30012800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346191.1XP_054202166.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X3

    2. XM_054346193.1XP_054202168.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X5

    3. XM_054346190.1XP_054202165.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X2

    4. XM_054346194.1XP_054202169.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X6

    5. XM_054346189.1XP_054202164.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X1

    6. XM_054346192.1XP_054202167.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X4

    7. XM_054346196.1XP_054202171.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X7

    8. XM_054346195.1XP_054202170.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X7

    9. XM_054346197.1XP_054202172.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X7

    10. XM_054346198.1XP_054202173.1  RNA-binding motif, single-stranded-interacting protein 3 isoform X8