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    SRSF4 serine and arginine rich splicing factor 4 [ Homo sapiens (human) ]

    Gene ID: 6429, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SRSF4provided by HGNC
    Official Full Name
    serine and arginine rich splicing factor 4provided by HGNC
    Primary source
    HGNC:HGNC:10786
    See related
    Ensembl:ENSG00000116350 MIM:601940; AllianceGenome:HGNC:10786
    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
    SFRS4; SRP75
    Summary
    Enables RNA binding activity. Involved in negative regulation of mRNA splicing, via spliceosome. Located in nuclear speck. Biomarker of Down syndrome; acute myeloid leukemia; clear cell renal cell carcinoma; and colon adenocarcinoma. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 33.0), bone marrow (RPKM 32.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SRSF4 in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (29147743..29181900, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28990399..29024556, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (29474255..29508412, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene erythrocyte membrane protein band 4.1 Neighboring gene Sharpr-MPRA regulatory region 9156 Neighboring gene ribosomal protein L27 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29449829-29450688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29450689-29451548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29451549-29452408 Neighboring gene transmembrane protein 200B Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29482895-29483396 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29490994-29491614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29504446-29504946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29508465-29509102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29509103-29509740 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29513125-29513770 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29513771-29514415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29524789-29525289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 555 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29535731-29536232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 610 Neighboring gene mitochondrial trans-2-enoyl-CoA reductase Neighboring gene uncharacterized LOC124903887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29556822-29557322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29557323-29557823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29569846-29570346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29570347-29570847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29571433-29571934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29576457-29577122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29575791-29576456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29577907-29578624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29581288-29581806 Neighboring gene protein tyrosine phosphatase receptor type U Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29609955-29610695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29610696-29611435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29617387-29617889 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29637206-29637706 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29637707-29638207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29638763-29639340 Neighboring gene Sharpr-MPRA regulatory region 13643 Neighboring gene Sharpr-MPRA regulatory region 8387

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene. Miano M, et al. Int J Mol Sci, 2024 Feb 8. PMID 38396760, Free PMC Article
    2. Human SR proteins and isolation of a cDNA encoding SRp75. Zahler AM, et al. Mol Cell Biol, 1993 Jul. PMID 8321209, Free PMC Article
    3. Role of the splicing factor SRSF4 in cisplatin-induced modifications of pre-mRNA splicing and apoptosis. Gabriel M, et al. BMC Cancer, 2015 Apr 7. PMID 25884497, Free PMC Article
    4. Physiological and Pathological Function of Serine/Arginine-Rich Splicing Factor 4 and Related Diseases. Tan W, et al. Biomed Res Int, 2018. PMID 29789787, Free PMC Article
    5. Multiple nuclear localization sequences in SRSF4 protein. Masaki S, et al. Genes Cells, 2020 May. PMID 32050040

    See all (147) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.
      Title: Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.
    2. SRSF4 Confers Temozolomide Resistance of Glioma via Accelerating Double Strand Break Repair.
      Title: SRSF4 Confers Temozolomide Resistance of Glioma via Accelerating Double Strand Break Repair.
    3. Multiple nuclear localization sequences in SRSF4 protein.
      Title: Multiple nuclear localization sequences in SRSF4 protein.
    4. increased SRSF4 expression stimulates Fas exon 6 inclusion, and that reduced SRSF4 expression promotes exon 6 exclusion.
      Title: Binding of SRSF4 to a novel enhancer modulates splicing of exon 6 of Fas pre-mRNA.
    5. Review of the role of serine and arginine rich splicing factor 4 (SRSF4) in physiology, gene expression regulation and disease.
      Title: Physiological and Pathological Function of Serine/Arginine-Rich Splicing Factor 4 and Related Diseases.
    6. Many of the splicing alterations induced by cisplatin are caused by SRSF4 and they contribute to apoptosis in a process requires class I PI3K.
      Title: Role of the splicing factor SRSF4 in cisplatin-induced modifications of pre-mRNA splicing and apoptosis.
    7. SRp75 inhibits splicing of tau exon 10 by binding to the CA repeat in the intronic splicing silencer downstream of the exon, and requires hnRNPG to exert its full regulatory effect on tau exon 10.
      Title: An SRp75/hnRNPG complex interacting with hnRNPE2 regulates the 5' splice site of tau exon 10, whose misregulation causes frontotemporal dementia.
    8. Serine- and arginine-rich proteins 55 and 75 (SRp55 and SRp75) induce production of HIV-1 vpr mRNA by inhibiting the 5'-splice site of exon 3.
      Title: Serine- and arginine-rich proteins 55 and 75 (SRp55 and SRp75) induce production of HIV-1 vpr mRNA by inhibiting the 5'-splice site of exon 3.
    9. the c.1002-1110_1113delTAAG mutation creates a new intronic splicing regulatory element in intron 6b of the CFTR gene exclusively recognized by SRp75
      Title: Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Submit: New GeneRIF Correction

    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
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify serine/arginine-rich splicing factor 4 (SRSF4), 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 4 (SRSF4), 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 4 (SRSF4), 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 4 (SRSF4), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Vif vif A novel exonic splicing enhancer (ESE) element within the 5'-proximal region of HIV-1 mRNA exon 2 facilitates both exon inclusion and Vif expression. This ESE binds specifically to the cellular SR protein SRp75 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 
    enables sequence-specific mRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA splicing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in RNA splicing, via transesterification reactions TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in mRNA processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    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 TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/arginine-rich splicing factor 4
    Names
    SR splicing factor 4
    SRP001LB
    pre-mRNA-splicing factor SRP75
    splicing factor, arginine/serine-rich 4

    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_005626.5 → NP_005617.2  serine/arginine-rich splicing factor 4

      See identical proteins and their annotated locations for NP_005617.2

      Status: REVIEWED

      Source sequence(s)
      AL590729, BC002781, CV814357
      Consensus CDS
      CCDS333.1
      UniProtKB/Swiss-Prot
      Q08170, Q5VXP1, Q9BUA4, Q9UEB5
      Related
      ENSP00000362900.4, ENST00000373795.7
      Conserved Domains (2) summary
      cd12337
      Location:3 → 72
      RRM1_SRSF4_like; RNA recognition motif 1 in serine/arginine-rich splicing factor 4 (SRSF4) and similar proteins
      cd12600
      Location:104 → 175
      RRM2_SRSF4_like; RNA recognition motif 2 in serine/arginine-rich splicing factor 4 (SRSF4) and similar proteins

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      29147743..29181900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541951.4 → XP_011540253.1  serine/arginine-rich splicing factor 4 isoform X2

      Related
      ENSP00000485813.1, ENST00000466448.4
      Conserved Domains (3) summary
      COG0724
      Location:98 → 250
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12337
      Location:3 → 72
      RRM1_SRSF4_like; RNA recognition motif 1 in serine/arginine-rich splicing factor 4 (SRSF4) and similar proteins
      cd12600
      Location:104 → 175
      RRM2_SRSF4_like; RNA recognition motif 2 in serine/arginine-rich splicing factor 4 (SRSF4) and similar proteins

    2. XM_047427708.1 → XP_047283664.1  serine/arginine-rich splicing factor 4 isoform X1

    3. XM_047427706.1 → XP_047283662.1  serine/arginine-rich splicing factor 4 isoform X1

    4. XM_047427714.1 → XP_047283670.1  serine/arginine-rich splicing factor 4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      28990399..29024556 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338179.1 → XP_054194154.1  serine/arginine-rich splicing factor 4 isoform X2

    2. XM_054338178.1 → XP_054194153.1  serine/arginine-rich splicing factor 4 isoform X1

    3. XM_054338177.1 → XP_054194152.1  serine/arginine-rich splicing factor 4 isoform X1

    4. XM_054338180.1 → XP_054194155.1  serine/arginine-rich splicing factor 4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08170.2 GenPept UniProtKB/Swiss-Prot:Q08170

    Gene LinkOut

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