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

    Gene ID: 10929, updated on 27-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (95066877..95071225)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (95073921..95078274)
    RS_2024_09 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 (52) 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)

    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 RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of alternative 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_2024_08

    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

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Miscellaneous