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SRSF8 serine and arginine rich splicing factor 8 [ Homo sapiens (human) ]

Gene ID: 10929, updated on 5-Mar-2024

Summary

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Official Symbol
SRSF8provided by HGNC
Official Full Name
serine and arginine rich splicing factor 8provided by HGNC
Primary source
HGNC:HGNC:16988
See related
Ensembl:ENSG00000263465 MIM:603269; AllianceGenome:HGNC:16988
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
Also known as
DSM-1; SRP46; SFRS2B
Summary
This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Expression
Ubiquitous expression in thyroid (RPKM 17.5), prostate (RPKM 14.1) and 25 other tissues See more
Orthologs
all
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Genomic context

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See SRSF8 in Genome Data Viewer
Location:
11q21
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (95066877..95071225)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (95073921..95078274)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (94800041..94804388)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:94783874-94784038 Neighboring gene lysine demethylase 4D pseudogene Neighboring gene lysine demethylase 4F Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:94799907-94800664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3845 Neighboring gene MPRA-validated peak1405 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3846 Neighboring gene Sharpr-MPRA regulatory region 7470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5414 Neighboring gene endonuclease domain containing 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:94841280-94842479 Neighboring gene BUD13 homolog pseudogene 1

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
  • 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. Characterization of SRp46, a novel human SR splicing factor encoded by a PR264/SC35 retropseudogene. Soret J, et al. Mol Cell Biol, 1998 Aug. PMID 9671500, Free PMC Article
  2. Increased expression of splicing factor SRp20 mRNA in bipolar disorder patients. Watanuki T, et al. J Affect Disord, 2008 Sep. PMID 18281098
  3. Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements. Lareau LF, et al. Nature, 2007 Apr 19. PMID 17361132
  4. Identification of differentially expressed genes in human melanoma cells with acquired resistance to various antineoplastic drugs. Grottke C, et al. Int J Cancer, 2000 Nov 15. PMID 11058868
  5. A rational nomenclature for serine/arginine-rich protein splicing factors (SR proteins). Manley JL, et al. Genes Dev, 2010 Jun 1. PMID 20516191, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Serine/arginine-rich splicing factor 8 (SRSF8) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ99817

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in nuclear speck IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
serine/arginine-rich splicing factor 8
Names
SR splicing factor 8
pre-mRNA-splicing factor SRP46
splicing factor, arginine/serine-rich 2B
splicing factor, arginine/serine-rich, 46kD

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_032102.4 → NP_115285.1  serine/arginine-rich splicing factor 8

    See identical proteins and their annotated locations for NP_115285.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
    Source sequence(s)
    AF031166, AK023379, AP001264, BC057783, DA723253, KF510392
    Consensus CDS
    CCDS73370.1
    UniProtKB/Swiss-Prot
    B2R6B8, Q6PF01, Q96TA3, Q9BRL6
    Related
    ENSP00000480140.1, ENST00000587424.3
    Conserved Domains (1) summary
    cd12311
    Location:16 → 88
    RRM_SRSF2_SRSF8; RNA recognition motif (RRM) found in serine/arginine-rich splicing factor SRSF2, SRSF8 and similar proteins

RNA

  1. NR_103726.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment compared to variant 1. This variant is represented as non-coding because the use of the translational start codon used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF031166, AK023379, AP001264, BC057783, DA723253, KF510392

  2. NR_169861.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal segment compared to variant 1. This variant is represented as non-coding because the use of the translational start codon used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP001264, FP929014, KF510392

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    95066877..95071225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    95073921..95078274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BRL6.1 GenPept UniProtKB/Swiss-Prot:Q9BRL6

Gene LinkOut

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Chemical Information
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Research Materials
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