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

Gene ID: 84530, updated on 7-Jun-2020

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
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

Genomic context

See SRRM4 in Genome Data Viewer
Location:
12q24.23
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (118981541..119163051)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (119419300..119600856)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370019 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

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA 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
mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
RNA splicing IEA
Inferred from Electronic Annotation
more info
 
cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
mRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA processing ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of RNA splicing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of RNA splicing ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of alternative mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
regulation of alternative mRNA splicing, via spliceosome ISS
Inferred from Sequence or Structural Similarity
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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