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    SRSF1 serine and arginine rich splicing factor 1 [ Homo sapiens (human) ]

    Gene ID: 6426, updated on 10-Dec-2024

    Summary

    Official Symbol
    SRSF1provided by HGNC
    Official Full Name
    serine and arginine rich splicing factor 1provided by HGNC
    Primary source
    HGNC:HGNC:10780
    See related
    Ensembl:ENSG00000136450 MIM:600812; AllianceGenome:HGNC:10780
    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
    ASF; SF2; SFRS1; NEDFBA; SF2p33; SRp30a
    Summary
    This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]
    Expression
    Ubiquitous expression in lymph node (RPKM 44.8), appendix (RPKM 40.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SRSF1 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (57989038..58007246, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (58863040..58881254, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56066399..56084607, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CUE domain containing 1 Neighboring gene uncharacterized LOC107985065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:55991179-55991679 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:56004573-56005088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12454 Neighboring gene Sharpr-MPRA regulatory region 4150 Neighboring gene Sharpr-MPRA regulatory region 6256 Neighboring gene NANOG hESC enhancer GRCh37_chr17:56029838-56030339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56043109-56043617 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:56046907-56047067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8755 Neighboring gene uncharacterized LOC101929185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12456 Neighboring gene vascular endothelial zinc finger 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12457 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:56082218-56083417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12459 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56084242-56084960 Neighboring gene uncharacterized LOC105371840 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:56129666-56130865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56152348-56152941 Neighboring gene Sharpr-MPRA regulatory region 5901 Neighboring gene DYNLL2 divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify serine/arginine-rich splicing factor 1 (SRSF1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify serine/arginine-rich splicing factor 1 (SRSF1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify serine/arginine-rich splicing factor 1 (SRSF1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify serine/arginine-rich splicing factor 1 (SRSF1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    gag ASF/SF2 binds to the cis enhancing sequence (CES) in the gp41 region and enhances Gag expression PubMed
    Rev rev SF2/ASF has been shown to inhibit Rev function in a dose-dependent fashion PubMed
    rev interaction of Rev with SF2/ASF is apparently mediated by complement component 1, q subcomponent binding protein (C1QBP, p32) which associates with SF2/ASF and binds to Rev PubMed
    rev SF2/ASF binds to RRE RNA in a Rev-dependent manner, an interaction that is associated with Rev inhibition of HIV-1 mRNA splicing PubMed
    rev SF2/ASF and SRp40 interact with a purine-rich motif within the HIV-1 exon 5, and this interaction activates splicing at an upstream 3' splice site and binding of the 5' splice site to U1 snRNP, which are required for splicing of HIV-1 rev and nef mRNAs PubMed
    Tat tat Serine/arginine-rich splicing factor 1 (SRSF1) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed
    tat HIV-1 Tat competes with SRSF1 for binding to overlapping sequences within TAR and 7SK RNA PubMed
    tat SRSF1 (serine/arginine-rich splicing factor 1) inhibits HIV-1 Tat-mediated transactivation activity in HEK293 cells, which is dependent on the HIV-1 LTR promoter and the SRSF1 RNA recognition motifs PubMed
    tat HIV-1 Tat mediated splicing is regulated by activating the SF2-dependent GAR enhancer rather than repressing usage of the upstream ESE/ESS2 element PubMed
    tat HIV-1 Tat synergizes with type I activators, such as Sp1 and CTF, to enhance transcript elongation and exon skipping, suggesting Tat function leads to the inhibition of splicing factors SF2/ASF and 9G8 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC5228, FLJ30048, FLJ37793, FLJ44342, FLJ53078

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA topoisomerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase B binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in alternative mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in alternative mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA 5'-splice site recognition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mRNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mRNA splice site recognition TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    PubMed 
    involved_in mRNA transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of RNA splicing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of exon-exon junction complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    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
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    serine/arginine-rich splicing factor 1
    Names
    SR splicing factor 1
    alternative-splicing factor 1
    pre-mRNA-splicing factor SF2, P33 subunit
    splicing factor 2
    splicing factor, arginine/serine-rich, 30-KD, A

    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_001078166.2NP_001071634.1  serine/arginine-rich splicing factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001071634.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2, also known as ASF-3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB209558, AC015813, CB044653, DA939911
      Consensus CDS
      CCDS58580.1
      UniProtKB/TrEMBL
      Q59FA2
      Related
      ENSP00000462215.1, ENST00000582730.6
      Conserved Domains (2) summary
      cd12597
      Location:1790
      RRM1_SRSF1; RNA recognition motif 1 in serine/arginine-rich splicing factor 1 (SRSF1) and similar proteins
      cl17169
      Location:121190
      RRM_SF; RNA recognition motif (RRM) superfamily
    2. NM_006924.5NP_008855.1  serine/arginine-rich splicing factor 1 isoform 1

      See identical proteins and their annotated locations for NP_008855.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1, also known as ASF-1).
      Source sequence(s)
      AC015813, BC010264, CB044653, DA939911
      Consensus CDS
      CCDS11600.1
      UniProtKB/Swiss-Prot
      B2R6Z7, D3DTZ3, Q07955, Q13809
      UniProtKB/TrEMBL
      A8K1L8
      Related
      ENSP00000258962.4, ENST00000258962.5
      Conserved Domains (2) summary
      cd12597
      Location:1290
      RRM1_SRSF1; RNA recognition motif 1 (RRM1) found in serine/arginine-rich splicing factor 1 (SRSF1) and similar proteins
      cd12767
      Location:113196
      RRM2_SRSF1; RNA recognition motif 2 (RRM2) found in serine/arginine-rich splicing factor 1 (SRSF1) and similar proteins

    RNA

    1. NR_034041.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC015813, BC033785, CB044653, DA939911
    2. NR_182661.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC015813

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      57989038..58007246 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436526.1XP_047292482.1  serine/arginine-rich splicing factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R6Z7, D3DTZ3, Q07955, Q13809
      UniProtKB/TrEMBL
      A8K1L8
    2. XM_047436527.1XP_047292483.1  serine/arginine-rich splicing factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R6Z7, D3DTZ3, Q07955, Q13809
      UniProtKB/TrEMBL
      A8K1L8
    3. XM_047436525.1XP_047292481.1  serine/arginine-rich splicing factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R6Z7, D3DTZ3, Q07955, Q13809
      UniProtKB/TrEMBL
      A8K1L8
    4. XM_047436524.1XP_047292480.1  serine/arginine-rich splicing factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R6Z7, D3DTZ3, Q07955, Q13809
      UniProtKB/TrEMBL
      A8K1L8
    5. XM_047436528.1XP_047292484.1  serine/arginine-rich splicing factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R6Z7, D3DTZ3, Q07955, Q13809
      UniProtKB/TrEMBL
      A8K1L8
    6. XM_047436523.1XP_047292479.1  serine/arginine-rich splicing factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R6Z7, D3DTZ3, Q07955, Q13809
      UniProtKB/TrEMBL
      A8K1L8
    7. XM_047436529.1XP_047292485.1  serine/arginine-rich splicing factor 1 isoform X2

      UniProtKB/TrEMBL
      Q59FA2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      58863040..58881254 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316904.1XP_054172879.1  serine/arginine-rich splicing factor 1 isoform X3

    RNA

    1. XR_008484874.1 RNA Sequence

    2. XR_008484873.1 RNA Sequence