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

    Gene ID: 84530, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See SRRM4 in Genome Data Viewer
    Location:
    12q24.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (118981541..119163051)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (118969040..119150482)
    RS_2024_09 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 OCT4-NANOG hESC enhancer GRCh37_chr12:119423722-119424248 Neighboring gene RNA, 7SL, cytoplasmic 508, pseudogene Neighboring gene uncharacterized LOC105370022 Neighboring gene NANOG hESC enhancer GRCh37_chr12:119493434-119493935 Neighboring gene MPRA-validated peak1997 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:119526455-119527045 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:119527046-119527635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:119527912-119528566 Neighboring gene uncharacterized LOC105370021 Neighboring gene uncharacterized LOC112268101 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:119591444-119591976 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:119591977-119592507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:119604289-119604789 Neighboring gene uncharacterized LOC105370024 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:119613960-119615159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:119616339-119617088 Neighboring gene uncharacterized LOC107984440 Neighboring gene heat shock protein family B (small) member 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A highly conserved program of neuronal microexons is misregulated in autistic brains. Irimia M, et al. Cell, 2014 Dec 18. PMID 25525873, Free PMC Article
    2. SRRM4 Expands the Repertoire of Circular RNAs by Regulating Microexon Inclusion. Conn VM, et al. Cells, 2020 Nov 16. PMID 33207694, Free PMC Article
    3. SRRM4 Drives Neuroendocrine Transdifferentiation of Prostate Adenocarcinoma Under Androgen Receptor Pathway Inhibition. Li Y, et al. Eur Urol, 2017 Jan. PMID 27180064
    4. A gapmer antisense oligonucleotide targeting SRRM4 is a novel therapeutic medicine for lung cancer. Shimojo M, et al. Sci Rep, 2019 May 20. PMID 31110284, Free PMC Article
    5. A novel mechanism of SRRM4 in promoting neuroendocrine prostate cancer development via a pluripotency gene network. Lee AR, et al. EBioMedicine, 2018 Sep. PMID 30100395, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNA Splicing Factors SRRM3 and SRRM4 Distinguish Molecular Phenotypes of Castration-Resistant Neuroendocrine Prostate Cancer.
      Title: RNA Splicing Factors SRRM3 and SRRM4 Distinguish Molecular Phenotypes of Castration-Resistant Neuroendocrine Prostate Cancer.
    2. SRRM4 Expands the Repertoire of Circular RNAs by Regulating Microexon Inclusion.
      Title: SRRM4 Expands the Repertoire of Circular RNAs by Regulating Microexon Inclusion.
    3. Alternative splicing of LSD1+8a in neuroendocrine prostate cancer is mediated by SRRM4.
      Title: Alternative splicing of LSD1+8a in neuroendocrine prostate cancer is mediated by SRRM4.
    4. RNA Splicing of the BHC80 Gene Contributes to Neuroendocrine Prostate Cancer Progression.
      Title: RNA Splicing of the BHC80 Gene Contributes to Neuroendocrine Prostate Cancer Progression.
    5. A gapmer antisense oligonucleotide targeting SRRM4 is a novel therapeutic medicine for lung cancer.
      Title: A gapmer antisense oligonucleotide targeting SRRM4 is a novel therapeutic medicine for lung cancer.
    6. SRRM4 expression in castrate-resistant pancreatic cancer is highly correlated with neuroendocrine prostate cancer and poor survival.
      Title: SRRM4 gene expression correlates with neuroendocrine prostate cancer.
    7. a novel mechanism by which SRRM4 drives neuroendocrine prostate cancer progression via a pluripotency gene network, is reported.
      Title: A novel mechanism of SRRM4 in promoting neuroendocrine prostate cancer development via a pluripotency gene network.
    8. data indicate that SRRM4 regulates alternative RNA splicing of the Bif-1 gene that enables PCa cells resistant to apoptotic stimuli under anti-cancer therapies, and may contribute to AdPC progression into t-NEPC.
      Title: Roles of Alternative RNA Splicing of the Bif-1 Gene by SRRM4 During the Development of Treatment-induced Neuroendocrine Prostate Cancer.
    9. SRRM4 regulates alternative splicing programs to drive neuroendocrine prostate cancer progression (an aggressive subtype of castration-resistant prostate cancer) under androgen receptor pathway inhibition.
      Title: SRRM4 Drives Neuroendocrine Transdifferentiation of Prostate Adenocarcinoma Under Androgen Receptor Pathway Inhibition.
    10. Neuronal activity-dependent microexons are nSR100 targets and are misregulated in autism.
      Title: Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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
    		  
    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
    		  
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    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)

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

      Status: VALIDATED

      Source sequence(s)
      AB058756, AC084361, AK291361, BM680369
      Consensus CDS
      CCDS44994.1
      UniProtKB/Swiss-Prot
      A7MD48, A8K5P6, B2RZH7, Q7Z5F0, Q96JH4
      UniProtKB/TrEMBL
      V5T9A0
      Related
      ENSP00000267260.4, ENST00000267260.5
      Conserved Domains (1) summary
      pfam15230
      Location:465 → 520
      SRRM_C; Serine/arginine repetitive matrix protein C-terminus

    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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A7MD48.2 GenPept UniProtKB/Swiss-Prot:A7MD48

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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