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    SRSF5 serine and arginine rich splicing factor 5 [ Homo sapiens (human) ]

    Gene ID: 6430, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SRSF5provided by HGNC
    Official Full Name
    serine and arginine rich splicing factor 5provided by HGNC
    Primary source
    HGNC:HGNC:10787
    See related
    Ensembl:ENSG00000100650 MIM:600914; AllianceGenome:HGNC:10787
    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
    HRS; SFRS5; SRP40
    Summary
    The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in bone marrow (RPKM 175.0), skin (RPKM 153.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SRSF5 in Genome Data Viewer
    Location:
    14q24.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (69767142..69772005)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (63934566..63979677)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (70233859..70238722)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 177 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:70061623-70061793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:70088656-70089156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8641 Neighboring gene sushi domain containing 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:70104475-70104987 Neighboring gene Sharpr-MPRA regulatory region 10837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:70124416-70125196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8644 Neighboring gene Sharpr-MPRA regulatory region 2331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8646 Neighboring gene Sharpr-MPRA regulatory region 930 Neighboring gene Sharpr-MPRA regulatory region 8327 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:70207027-70208226 Neighboring gene uncharacterized LOC100289511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:70233975-70234739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8649 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:70237232-70238431 Neighboring gene solute carrier family 10 member 1 Neighboring gene Sharpr-MPRA regulatory region 10266 Neighboring gene small nucleolar RNA SNORA11

    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. Mutually exclusive acetylation and ubiquitylation of the splicing factor SRSF5 control tumor growth. Chen Y, et al. Nat Commun, 2018 Jun 25. PMID 29942010, Free PMC Article
    2. Expression analysis and chromosomal assignment of the human SFRS5/SRp40 gene. Snow BE, et al. Genomics, 1997 Jul 15. PMID 9244433
    3. Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients. Vautrot V, et al. Hum Mutat, 2016 Mar. PMID 26670336
    4. SRSF5: a novel marker for small-cell lung cancer and pleural metastatic cancer. Kim HR, et al. Lung Cancer, 2016 Sep. PMID 27565915
    5. HRS plays an important role for TLR7 signaling to orchestrate inflammation and innate immunity upon EV71 infection. Luo Z, et al. PLoS Pathog, 2017 Aug. PMID 28854257, Free PMC Article

    See all (178) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CPEB2 m6A methylation regulates blood-tumor barrier permeability by regulating splicing factor SRSF5 stability.
      Title: CPEB2 m6A methylation regulates blood-tumor barrier permeability by regulating splicing factor SRSF5 stability.
    2. Genes involved in glucocorticoid receptor signalling affect susceptibility to mood disorders.
      Title: Genes involved in glucocorticoid receptor signalling affect susceptibility to mood disorders.
    3. Antitumor activity of SR splicing-factor 5 knockdown by downregulating pyruvate kinase M2 in non-small cell lung cancer cells.
      Title: Antitumor activity of SR splicing-factor 5 knockdown by downregulating pyruvate kinase M2 in non-small cell lung cancer cells.
    4. In this study, we uncover an alternative role for the ESCRT-0 component hepatocyte growth factor-regulated tyrosine kinase substrate (HRS) in promoting the constitutive recycling of transmembrane proteins. We find that endosomal localization of the actin nucleating factor Wiscott-Aldrich syndrome protein and SCAR homologue (WASH) requires HRS, which occupies adjacent endosomal subdomains
      Title: HRS-WASH axis governs actin-mediated endosomal recycling and cell invasion.
    5. Cold induction of serine and arginine rich splicing factor 5 (SRSF5) is independent of cold-inducible RNA-binding protein (CIRP) and RNA-binding motif protein 3 (RBM3).
      Title: TRPV4-dependent induction of a novel mammalian cold-inducible protein SRSF5 as well as CIRP and RBM3.
    6. Study found that SRSF5 is a novel target of SRSF3. SRSF5 is overexpressed in oral squamous cell carcinoma (OSCC) and functions as an oncogene. Its downregulation in OSCC cell lines slows cell growth, cycle progression, and tumor growth. The expression of SRSF5 seems to controlled by an autoregulation mechanism.
      Title: SRSF5 functions as a novel oncogenic splicing factor and is upregulated by oncogene SRSF3 in oral squamous cell carcinoma.
    7. upon glucose intake, the splicing factor SRSF5 is specifically induced through Tip60-mediated acetylation on K125, which antagonizes Smurf1-mediated ubiquitylation. SRSF5 promotes the alternative splicing of CCAR1 to produce CCAR1S proteins, which promote tumor growth by enhancing glucose consumption and acetyl-CoA production.
      Title: Mutually exclusive acetylation and ubiquitylation of the splicing factor SRSF5 control tumor growth.
    8. we show that ErbB3 interacts with the ESCRT-0 subunit Hrs both in the presence and absence of heregulin. This indicates an ESCRT-mediated sorting of ErbB3 to late endosomes and lysosomes, and in line with this we show that impaired ESCRT function leads to an endosomal accumulation of ErbB3.
      Title: ErbB3 interacts with Hrs and is sorted to lysosomes for degradation.
    9. the up-regulated expression of SRSF 5-7 proteins in LC with much more profound up-regulation in SCLC than in NSCLC and suggest that up-regulation of the SRSFs is related to SCLC proliferation. Moreover, we identified SRSF5 as a novel detection marker for SCLC and pleural metastatic cancer cells.
      Title: SRSF5: a novel marker for small-cell lung cancer and pleural metastatic cancer.
    10. this study demonstrates that HRS acts as a key component of TLR7 signaling to orchestrate immune and inflammatory responses during EV71 infection
      Title: HRS plays an important role for TLR7 signaling to orchestrate inflammation and innate immunity upon EV71 infection.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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
    Envelope surface glycoprotein gp160, precursor env The bidirectional SF2/ASF- and SRp40-dependent splicing enhancer regulates HIV-1 rev, env, vpu, and nef gene expression PubMed
    Nef nef The bidirectional SF2/ASF- and SRp40-dependent splicing enhancer regulates HIV-1 rev, env, vpu, and nef gene expression PubMed
    Pr55(Gag) gag Human CRM1 and SRp40 increase the amount of unspliced HIV-1 RNA and have a more-than-additive effect on HIV-1 titers in mouse cells PubMed
    gag SR proteins, particularly SRp40 and SRp55, increase HIV-1 Gag translation from unspliced viral RNA. The second RNA recognition motif and the arginine-serine (RS) domain are determinants of SR protein activity PubMed
    Rev 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
    Vpu vpu The bidirectional SF2/ASF- and SRp40-dependent splicing enhancer regulates HIV-1 rev, env, vpu, and nef gene expression PubMed
    capsid gag Human CRM1 and SRp40 have a more-than-additive effect on HIV-1 CA production in mouse cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 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 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleolus 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 5
    Names
    SR splicing factor 5
    delayed-early protein HRS
    pre-mRNA-splicing factor SRP40
    splicing factor, arginine/serine-rich 5

    NCBI Reference Sequences (RefSeq)

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    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_001039465.2 → NP_001034554.1  serine/arginine-rich splicing factor 5 isoform 1

      See identical proteins and their annotated locations for NP_001034554.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA640719, BC018823, BU928782
      Consensus CDS
      CCDS32109.1
      UniProtKB/Swiss-Prot
      O14797, Q13243, Q16662, Q49AD6, Q6FGE0
      Related
      ENSP00000377892.2, ENST00000394366.6
      Conserved Domains (2) summary
      cd12595
      Location:5 → 74
      RRM1_SRSF5; RNA recognition motif 1 (RRM1) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)
      cd12765
      Location:99 → 179
      RRM2_SRSF5; RNA recognition motif 2 (RRM2) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)

    2. NM_001320214.2 → NP_001307143.1  serine/arginine-rich splicing factor 5 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL157789, BC040209, DC307911
      Consensus CDS
      CCDS32109.1
      UniProtKB/Swiss-Prot
      O14797, Q13243, Q16662, Q49AD6, Q6FGE0
      Related
      ENSP00000451088.1, ENST00000557154.6
      Conserved Domains (2) summary
      cd12595
      Location:5 → 74
      RRM1_SRSF5; RNA recognition motif 1 (RRM1) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)
      cd12765
      Location:99 → 179
      RRM2_SRSF5; RNA recognition motif 2 (RRM2) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)

    3. NM_001411040.1 → NP_001397969.1  serine/arginine-rich splicing factor 5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL157789
      Consensus CDS
      CCDS91892.1
      UniProtKB/TrEMBL
      B4DUA4

    4. NM_006925.5 → NP_008856.2  serine/arginine-rich splicing factor 5 isoform 1

      See identical proteins and their annotated locations for NP_008856.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL157789, BX407495, DR761538
      Consensus CDS
      CCDS32109.1
      UniProtKB/Swiss-Prot
      O14797, Q13243, Q16662, Q49AD6, Q6FGE0
      Related
      ENSP00000451391.1, ENST00000553635.5
      Conserved Domains (2) summary
      cd12595
      Location:5 → 74
      RRM1_SRSF5; RNA recognition motif 1 (RRM1) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)
      cd12765
      Location:99 → 179
      RRM2_SRSF5; RNA recognition motif 2 (RRM2) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      69767142..69772005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021593.3 → XP_016877082.1  serine/arginine-rich splicing factor 5 isoform X1

      Related
      ENST00000556587.5
      Conserved Domains (2) summary
      cd12595
      Location:5 → 74
      RRM1_SRSF5; RNA recognition motif 1 (RRM1) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)
      cd12765
      Location:99 → 179
      RRM2_SRSF5; RNA recognition motif 2 (RRM2) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)

    2. XM_005267999.3 → XP_005268056.1  serine/arginine-rich splicing factor 5 isoform X1

      See identical proteins and their annotated locations for XP_005268056.1

      Conserved Domains (2) summary
      cd12595
      Location:5 → 74
      RRM1_SRSF5; RNA recognition motif 1 (RRM1) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)
      cd12765
      Location:99 → 179
      RRM2_SRSF5; RNA recognition motif 2 (RRM2) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)

    3. XM_011537077.4 → XP_011535379.1  serine/arginine-rich splicing factor 5 isoform X2

      See identical proteins and their annotated locations for XP_011535379.1

      Conserved Domains (2) summary
      cd12337
      Location:5 → 66
      RRM1_SRSF4_like; RNA recognition motif 1 in serine/arginine-rich splicing factor 4 (SRSF4) and similar proteins
      cd12600
      Location:75 → 145
      RRM2_SRSF4_like; RNA recognition motif 2 in serine/arginine-rich splicing factor 4 (SRSF4) and similar proteins

    4. XM_005268000.3 → XP_005268057.1  serine/arginine-rich splicing factor 5 isoform X1

      See identical proteins and their annotated locations for XP_005268057.1

      Conserved Domains (2) summary
      cd12595
      Location:5 → 74
      RRM1_SRSF5; RNA recognition motif 1 (RRM1) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)
      cd12765
      Location:99 → 179
      RRM2_SRSF5; RNA recognition motif 2 (RRM2) found in vertebrate serine/arginine-rich splicing factor 5 (SRSF5)

    5. XM_047431683.1 → XP_047287639.1  serine/arginine-rich splicing factor 5 isoform X2

    6. XM_047431684.1 → XP_047287640.1  serine/arginine-rich splicing factor 5 isoform X4

      UniProtKB/TrEMBL
      B4DUA4
      Related
      ENSP00000452449.1, ENST00000553369.5

    7. XM_047431685.1 → XP_047287641.1  serine/arginine-rich splicing factor 5 isoform X4

      UniProtKB/TrEMBL
      B4DUA4
      Related
      ENSP00000450918.1, ENST00000554021.1

    8. XM_017021594.3 → XP_016877083.1  serine/arginine-rich splicing factor 5 isoform X3

      UniProtKB/TrEMBL
      Q86U32
      Conserved Domains (1) summary
      cl17169
      Location:1 → 51
      RRM_SF; RNA recognition motif (RRM) superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      63934566..63979677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376577.1 → XP_054232552.1  serine/arginine-rich splicing factor 5 isoform X5

      UniProtKB/Swiss-Prot
      O14797, Q13243, Q16662, Q49AD6, Q6FGE0

    2. XM_054376578.1 → XP_054232553.1  serine/arginine-rich splicing factor 5 isoform X5

      UniProtKB/Swiss-Prot
      O14797, Q13243, Q16662, Q49AD6, Q6FGE0

    3. XM_054376581.1 → XP_054232556.1  serine/arginine-rich splicing factor 5 isoform X1

    4. XM_054376583.1 → XP_054232558.1  serine/arginine-rich splicing factor 5 isoform X2

    5. XM_054376586.1 → XP_054232561.1  serine/arginine-rich splicing factor 5 isoform X4

      UniProtKB/TrEMBL
      B4DUA4

    6. XM_054376579.1 → XP_054232554.1  serine/arginine-rich splicing factor 5 isoform X1

    7. XM_054376582.1 → XP_054232557.1  serine/arginine-rich splicing factor 5 isoform X2

    8. XM_054376585.1 → XP_054232560.1  serine/arginine-rich splicing factor 5 isoform X4

      UniProtKB/TrEMBL
      B4DUA4

    9. XM_054376580.1 → XP_054232555.1  serine/arginine-rich splicing factor 5 isoform X1

    10. XM_054376584.1 → XP_054232559.1  serine/arginine-rich splicing factor 5 isoform X3

      UniProtKB/TrEMBL
      Q86U32
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13243.1 GenPept UniProtKB/Swiss-Prot:Q13243

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