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] See more...

Aliases for SRSF1 Gene

Aliases for SRSF1 Gene

  • Serine And Arginine Rich Splicing Factor 1 2 3 5
  • Pre-MRNA-Splicing Factor SF2, P33 Subunit 2 3 4
  • Serine/Arginine-Rich Splicing Factor 1 2 3 4
  • Splicing Factor, Arginine/Serine-Rich 1 2 4
  • Alternative-Splicing Factor 1 3 4
  • SR Splicing Factor 1 2 3
  • Splicing Factor 2 2 3
  • SFRS1 3 4
  • ASF 3 4
  • SF2 3 4
  • Splicing Factor, Arginine/Serine-Rich, 30-KD, A 3
  • Alternate Splicing Factor 2
  • SF2p33 3
  • SRp30a 3
  • SF2P33 4
  • ASF-1 4

External Ids for SRSF1 Gene

Previous HGNC Symbols for SRSF1 Gene

  • SFRS1

Previous GeneCards Identifiers for SRSF1 Gene

  • GC17M056079
  • GC17M051439

Summaries for SRSF1 Gene

Entrez Gene Summary for SRSF1 Gene

  • 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]

GeneCards Summary for SRSF1 Gene

SRSF1 (Serine And Arginine Rich Splicing Factor 1) is a Protein Coding gene. Diseases associated with SRSF1 include Retinitis Pigmentosa 4 and Congenital Myasthenic Syndrome. Among its related pathways are Gene Expression and Transport of Mature Transcript to Cytoplasm. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ENSG00000266086.

UniProtKB/Swiss-Prot Summary for SRSF1 Gene

  • Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'-CGAGGCG-3' motif in vitro. Three copies of the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can specifically activate ASE-dependent splicing. Isoform ASF-2 and isoform ASF-3 act as splicing repressors. May function as export adapter involved in mRNA nuclear export through the TAP/NXF1 pathway.

Gene Wiki entry for SRSF1 Gene

Additional gene information for SRSF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRSF1 Gene

Genomics for SRSF1 Gene

GeneHancer (GH) Regulatory Elements for SRSF1 Gene

Promoters and enhancers for SRSF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRSF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRSF1

Genomic Locations for SRSF1 Gene

Genomic Locations for SRSF1 Gene
chr17:58,000,919-58,007,346
(GRCh38/hg38)
Size:
6,428 bases
Orientation:
Minus strand
chr17:56,078,280-56,084,707
(GRCh37/hg19)
Size:
6,428 bases
Orientation:
Minus strand

Genomic View for SRSF1 Gene

Genes around SRSF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRSF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRSF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRSF1 Gene

Proteins for SRSF1 Gene

  • Protein details for SRSF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07955-SRSF1_HUMAN
    Recommended name:
    Serine/arginine-rich splicing factor 1
    Protein Accession:
    Q07955
    Secondary Accessions:
    • B2R6Z7
    • D3DTZ3
    • Q13809

    Protein attributes for SRSF1 Gene

    Size:
    248 amino acids
    Molecular mass:
    27745 Da
    Quaternary structure:
    • Consists of two polypeptides of p32 and p33. In vitro, self-associates and binds SRSF2, SNRNP70 and U2AF1 but not U2AF2. Binds SREK1/SFRS12. Interacts with SAFB/SAFB1. Interacts with PSIP1/LEDGF. Interacts with SRPK1. Identified in the spliceosome C complex. Interacts with RSRC1 (via Arg/Ser-rich domain). Interacts with ZRSR2/U2AF1-RS2. Interacts with CCDC55 (via C-terminus). Interacts with SRPK1 and a sliding docking interaction is essential for its sequential and processive phosphorylation by SRPK1. Interacts with NXF1. Interacts with CCNL1, CCNL2 and CDK11B (PubMed:18216018). Interacts with RRP1B (PubMed:23604122). Interacts (when phosphorylated in its RS domain) with TNPO3; promoting nuclear import (PubMed:24449914).
    Miscellaneous:
    • [Isoform ASF-3]: May be due to intron retention.

    Three dimensional structures from OCA and Proteopedia for SRSF1 Gene

    Alternative splice isoforms for SRSF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRSF1 Gene

Post-translational modifications for SRSF1 Gene

  • Phosphorylated by CLK1, CLK2, CLK3 and CLK4. Phosphorylated by SRPK1 at multiple serines in its RS domain via a directional (C-terminal to N-terminal) and a dual-track mechanism incorporating both processive phosphorylation (in which the kinase stays attached to the substrate after each round of phosphorylation) and distributive phosphorylation steps (in which the kinase and substrate dissociate after each phosphorylation event). The RS domain of SRSF1 binds to a docking groove in the large lobe of the kinase domain of SRPK1 and this induces certain structural changes in SRPK1 and/or RRM 2 domain of SRSF1, allowing RRM 2 to bind the kinase and initiate phosphorylation. The cycles continue for several phosphorylation steps in a processive manner (steps 1-8) until the last few phosphorylation steps (approximately steps 9-12). During that time, a mechanical stress induces the unfolding of the beta-4 motif in RRM 2, which then docks at the docking groove of SRPK1. This also signals RRM 2 to begin to dissociate, which facilitates SRSF1 dissociation after phosphorylation is completed.
  • Asymmetrically dimethylated at arginines, probably by PRMT1, methylation promotes localization to nuclear speckles.
  • Ubiquitination at Lys30, Lys38, Lys138, Lys174, and Lys179
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SRSF1 Gene

Domains & Families for SRSF1 Gene

Gene Families for SRSF1 Gene

Protein Domains for SRSF1 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SRSF1 Gene

GenScript: Design optimal peptide antigens:
  • pre-mRNA-splicing factor SF2, P33 subunit (SRSF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07955

UniProtKB/Swiss-Prot:

SRSF1_HUMAN :
  • The RRM 2 domain plays an important role in governing both the binding mode and the phosphorylation mechanism of the RS domain by SRPK1. RS domain and RRM 2 are uniquely positioned to initiate a highly directional (C-terminus to N-terminus) phosphorylation reaction in which the RS domain slides through an extended electronegative channel separating the docking groove of SRPK1 and the active site. RRM 2 binds toward the periphery of the active site and guides the directional phosphorylation mechanism. Both the RS domain and an RRM domain are required for nucleocytoplasmic shuttling.
  • Belongs to the splicing factor SR family.
Domain:
  • The RRM 2 domain plays an important role in governing both the binding mode and the phosphorylation mechanism of the RS domain by SRPK1. RS domain and RRM 2 are uniquely positioned to initiate a highly directional (C-terminus to N-terminus) phosphorylation reaction in which the RS domain slides through an extended electronegative channel separating the docking groove of SRPK1 and the active site. RRM 2 binds toward the periphery of the active site and guides the directional phosphorylation mechanism. Both the RS domain and an RRM domain are required for nucleocytoplasmic shuttling.
Family:
  • Belongs to the splicing factor SR family.
genes like me logo Genes that share domains with SRSF1: view

Function for SRSF1 Gene

Molecular function for SRSF1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'-CGAGGCG-3' motif in vitro. Three copies of the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can specifically activate ASE-dependent splicing. Isoform ASF-2 and isoform ASF-3 act as splicing repressors. May function as export adapter involved in mRNA nuclear export through the TAP/NXF1 pathway.

Phenotypes From GWAS Catalog for SRSF1 Gene

Gene Ontology (GO) - Molecular Function for SRSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IPI 20797886
GO:0003729 mRNA binding IDA 21984414
GO:0005515 protein binding IPI 9237760
GO:0044547 DNA topoisomerase binding IPI 9611241
genes like me logo Genes that share ontologies with SRSF1: view
genes like me logo Genes that share phenotypes with SRSF1: view

Animal Models for SRSF1 Gene

MGI Knock Outs for SRSF1:

Animal Model Products

CRISPR Products

miRNA for SRSF1 Gene

miRTarBase miRNAs that target SRSF1

Clone Products

  • Addgene plasmids for SRSF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SRSF1 Gene

Localization for SRSF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRSF1 Gene

Cytoplasm. Nucleus speckle. Note=In nuclear speckles. Shuttles between the nucleus and the cytoplasm (PubMed:12215544, PubMed:20308322, PubMed:9420331, PubMed:24449914). Nuclear import is mediated via interaction with TNPO3 (PubMed:24449914). {ECO:0000269 PubMed:12215544, ECO:0000269 PubMed:20308322, ECO:0000269 PubMed:24449914, ECO:0000269 PubMed:9420331}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRSF1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SRSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21984414
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005737 cytoplasm IEA --
GO:0016607 nuclear speck IDA 20797886
genes like me logo Genes that share ontologies with SRSF1: view

Pathways & Interactions for SRSF1 Gene

genes like me logo Genes that share pathways with SRSF1: view

Pathways by source for SRSF1 Gene

1 Cell Signaling Technology pathway for SRSF1 Gene

SIGNOR curated interactions for SRSF1 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for SRSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IDA 8940107
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000395 mRNA 5'-splice site recognition IDA 8940107
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006376 mRNA splice site selection TAS 1830244
genes like me logo Genes that share ontologies with SRSF1: view

Drugs & Compounds for SRSF1 Gene

(3) Drugs for SRSF1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 236
genes like me logo Genes that share compounds with SRSF1: view

Transcripts for SRSF1 Gene

mRNA/cDNA for SRSF1 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SRSF1

Alternative Splicing Database (ASD) splice patterns (SP) for SRSF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b
SP1: - -
SP2: - -
SP3: - - -
SP4: -
SP5: - -
SP6: - - -
SP7: -
SP8: -
SP9: - -

Relevant External Links for SRSF1 Gene

GeneLoc Exon Structure for
SRSF1

Expression for SRSF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRSF1 Gene

Protein differential expression in normal tissues from HIPED for SRSF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.3) and Nasal epithelium (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SRSF1 Gene



Protein tissue co-expression partners for SRSF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRSF1

SOURCE GeneReport for Unigene cluster for SRSF1 Gene:

Hs.68714

Evidence on tissue expression from TISSUES for SRSF1 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Intestine(3.5)
  • Skin(3.5)
  • Kidney(3.4)
  • Lung(3.2)
  • Muscle(2.7)
  • Pancreas(2.7)
  • Thyroid gland(2.7)
  • Blood(2.6)
  • Adrenal gland(2.4)
  • Bone marrow(2.4)
  • Gall bladder(2.4)
  • Heart(2.4)
  • Lymph node(2.4)
  • Spleen(2.4)
genes like me logo Genes that share expression patterns with SRSF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRSF1 Gene

Orthologs for SRSF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SRSF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRSF1 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SRSF1 31 30
  • 97.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SRSF1 31 30
  • 97.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srsf1 30
  • 96.37 (n)
mouse
(Mus musculus)
Mammalia Srsf1 17 31 30
  • 94.49 (n)
oppossum
(Monodelphis domestica)
Mammalia SRSF1 31
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRSF1 31
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves SRSF1 31 30
  • 87.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRSF1 31
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srsf1 30
  • 80.37 (n)
Str.6578 30
zebrafish
(Danio rerio)
Actinopterygii srsf1b 31
  • 92 (a)
OneToMany
srsf1a 31 30
  • 79.38 (n)
OneToMany
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010496 30
  • 67.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta SF2 31 30
  • 66.48 (n)
ManyToMany
Rsf1 31
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rsp-3 31 30
  • 63.77 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPL3 31
  • 18 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02430 30
  • 62.13 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.560 30