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

Gene ID: 6429, updated on 3-Nov-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, Nov 2024]
Expression
Ubiquitous expression in placenta (RPKM 33.0), bone marrow (RPKM 32.4) and 25 other tissues See more
Orthologs
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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: 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. 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
  2. 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
  3. Human SR proteins and isolation of a cDNA encoding SRp75. Zahler AM, et al. Mol Cell Biol, 1993 Jul. PMID 8321209, 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. SRSF4 Confers Temozolomide Resistance of Glioma via Accelerating Double Strand Break Repair. Sun Y, et al. J Mol Neurosci, 2023 May. PMID 37014544

See all (146) 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)

Genotypes

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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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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