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    SRRM4 serine/arginine repetitive matrix 4 [ Homo sapiens (human) ]

    Gene ID: 84530, updated on 5-Aug-2022

    Summary

    Official Symbol
    SRRM4provided by HGNC
    Official Full Name
    serine/arginine repetitive matrix 4provided by HGNC
    Primary source
    HGNC:HGNC:29389
    See related
    Ensembl:ENSG00000139767 MIM:613103; AllianceGenome:HGNC:29389
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    nSR100; KIAA1853; MU-MB-2.76
    Summary
    SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]
    Expression
    Biased expression in brain (RPKM 5.9) and adrenal (RPKM 0.7) See more
    Orthologs
    NEW
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    Genomic context

    See SRRM4 in Genome Data Viewer
    Location:
    12q24.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (118981541..119163051)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (118969040..119150482)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (119419346..119600856)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370019 Neighboring gene small nucleolar RNA SNORA38 Neighboring gene uncharacterized LOC105370020 Neighboring gene RNA, 7SL, cytoplasmic 508, pseudogene Neighboring gene uncharacterized LOC105370022 Neighboring gene uncharacterized LOC105370021 Neighboring gene uncharacterized LOC112268101 Neighboring gene uncharacterized LOC105370024 Neighboring gene uncharacterized LOC107984440 Neighboring gene heat shock protein family B (small) member 8

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1853, MGC176729

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables mRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mRNA processing 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 neuron maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of RNA splicing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of alternative mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    serine/arginine repetitive matrix protein 4
    Names
    medulloblastoma antigen MU-MB-2.76
    neural-specific SR-related protein of 100 kDa
    neural-specific serine/arginine repetitive splicing factor of 100 kDa

    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_194286.4NP_919262.2  serine/arginine repetitive matrix protein 4

      See identical proteins and their annotated locations for NP_919262.2

      Status: VALIDATED

      Source sequence(s)
      AB058756, AC084361, AK291361, BM680369
      Consensus CDS
      CCDS44994.1
      UniProtKB/Swiss-Prot
      A7MD48, Q96JH4
      UniProtKB/TrEMBL
      V5T9A0
      Related
      ENSP00000267260.4, ENST00000267260.5
      Conserved Domains (1) summary
      pfam15230
      Location:465520
      SRRM_C; Serine/arginine repetitive matrix protein C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      118981541..119163051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      118969040..119150482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)