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Aliases for SRSF1 Gene

Aliases for SRSF1 Gene

  • Serine/Arginine-Rich Splicing Factor 1 2 3 5
  • Pre-MRNA-Splicing Factor SF2, P33 Subunit 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
  • SF2p33 3 4
  • SFRS1 3 4
  • ASF 3 4
  • SF2 3 4
  • Splicing Factor, Arginine/Serine-Rich, 30-KD, A 3
  • Pre-MRNA-Splicing Factor SF2 2
  • Alternate Splicing Factor 2
  • P33 Subunit 2
  • SRp30a 3
  • 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/Arginine-Rich Splicing Factor 1) is a Protein Coding gene. Diseases associated with SRSF1 include afibrinogenemia and spinocerebellar ataxia 31. Among its related pathways are Gene Expression and Transport of Mature Transcript to Cytoplasm. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is SRSF4.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRSF1 Gene

Genomics for SRSF1 Gene

Regulatory Elements for SRSF1 Gene

Promoters for SRSF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SRSF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SRSF1 Gene

Chromosome:
17
Start:
58,000,919 bp from pter
End:
58,007,346 bp from pter
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.

    Three dimensional structures from OCA and Proteopedia for SRSF1 Gene

    Alternative splice isoforms for SRSF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRSF1 Gene

Proteomics data for SRSF1 Gene at MOPED

Post-translational modifications for SRSF1 Gene

  • Asymmetrically dimethylated at arginines, probably by PRMT1, methylation promotes localization to nuclear speckles.
  • 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.
  • Ubiquitination at Lys 30, Lys 38, Lys 138, and Lys 179
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SRSF1 (SF2)

No data available for DME Specific Peptides for SRSF1 Gene

Domains & Families for SRSF1 Gene

Protein Domains for SRSF1 Gene

Suggested Antigen Peptide Sequences for SRSF1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 2 RRM (RNA recognition motif) domains.
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.

Gene Ontology (GO) - Molecular Function for SRSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003729 mRNA binding IDA 21984414
GO:0050733 RS domain binding IEA --
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

miRNA for SRSF1 Gene

miRTarBase miRNAs that target SRSF1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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. {ECO:0000269 PubMed:12215544, ECO:0000269 PubMed:20308322, ECO:0000269 PubMed:9420331}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SRSF1 Gene COMPARTMENTS Subcellular localization image for SRSF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SRSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome IDA 23376485
GO:0071013 catalytic step 2 spliceosome IDA 11991638
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

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:0000395 mRNA 5-splice site recognition IDA 8940107
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006366 transcription from RNA polymerase II promoter 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

(2) Drugs for SRSF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SRSF1: view

Transcripts for SRSF1 Gene

Unigene Clusters for SRSF1 Gene

Serine/arginine-rich splicing factor 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
SRSF1

Expression for SRSF1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for SRSF1 Gene



SOURCE GeneReport for Unigene cluster for SRSF1 Gene Hs.68714

genes like me logo Genes that share expression patterns with SRSF1: view

Protein tissue co-expression partners for SRSF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia SRSF1 35
  • 97.31 (n)
  • 100 (a)
SRSF1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SRSF1 35
  • 97.72 (n)
  • 100 (a)
SRSF1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Srsf1 35
  • 94.49 (n)
  • 100 (a)
Srsf1 16
Srsf1 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SRSF1 35
  • 100 (n)
  • 100 (a)
SRSF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srsf1 35
  • 96.37 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia SRSF1 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRSF1 36
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves SRSF1 35
  • 87.9 (n)
  • 98.79 (a)
SRSF1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRSF1 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srsf1 35
  • 80.37 (n)
  • 95.94 (a)
Str.6578 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
srsf1a 35
  • 79.38 (n)
  • 95.88 (a)
srsf1a 36
  • 92 (a)
OneToMany
srsf1b 36
  • 92 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010496 35
  • 67.05 (n)
  • 72.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta SF2 35
  • 66.48 (n)
  • 70.72 (a)
Rsf1 36
  • 36 (a)
ManyToMany
SF2 36
  • 62 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rsp-3 35
  • 63.77 (n)
  • 66.85 (a)
rsp-3 36
  • 59 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPL3 36
  • 18 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02430 35
  • 62.13 (n)
  • 60.95 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.560 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1451 36
  • 65 (a)
ManyToMany
CSA.5260 36
  • 68 (a)
ManyToMany
Species with no ortholog for SRSF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SRSF1 Gene

ENSEMBL:
Gene Tree for SRSF1 (if available)
TreeFam:
Gene Tree for SRSF1 (if available)

Paralogs for SRSF1 Gene

Paralogs for SRSF1 Gene

(11) SIMAP similar genes for SRSF1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SRSF1 Gene

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

Variants for SRSF1 Gene

Sequence variations from dbSNP and Humsavar for SRSF1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_035488 A breast cancer sample
rs8819 -- 58,001,377(-) TCCCC(A/G)TAAAA nc-transcript-variant, utr-variant-3-prime
rs10623 -- 58,003,675(-) CTCCT(C/T)GGAAG nc-transcript-variant, utr-variant-3-prime
rs1130307 -- 58,006,521(-) GACGC(A/G)GAAGA nc-transcript-variant, reference, synonymous-codon
rs2233905 -- 58,008,104(-) GAAAG(A/G)AAACA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SRSF1 Gene

Variant ID Type Subtype PubMed ID
nsv833497 CNV Loss 17160897

Variation tolerance for SRSF1 Gene

Residual Variation Intolerance Score: 45.3% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SRSF1 Gene

HapMap Linkage Disequilibrium report
SRSF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRSF1 Gene

Disorders for SRSF1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SRSF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
afibrinogenemia
  • congenital afibrinogenemia
spinocerebellar ataxia 31
  • spinocerebellar ataxia type 31
breast adenoma
  • ademoma - breast
korean hemorrhagic fever
  • hemorrhagic fever with renal syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SRSF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SRSF1

Genetic Association Database (GAD)
SRSF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRSF1
genes like me logo Genes that share disorders with SRSF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRSF1 Gene

Publications for SRSF1 Gene

  1. Chromosomal localization of mouse and human genes encoding the splicing factors ASF/SF2 (SFRS1) and SC-35 (SFRS2). (PMID: 8530103) Bermingham J.R. … Rosenfeld M.G. (Genomics 1995) 2 3 23 67
  2. A rational nomenclature for serine/arginine-rich protein splicing factors (SR proteins). (PMID: 20516191) Manley J.L. … Krainer A.R. (Genes Dev. 2010) 2 3
  3. Role of cellular RNA processing factors in human immunodeficiency virus type 1 mRNA metabolism, replication, and infectivity. (PMID: 19004959) Jablonski J.A. … Caputi M. (J. Virol. 2009) 3 23
  4. Identification of nuclear and cytoplasmic mRNA targets for the shuttling protein SF2/ASF. (PMID: 18841201) Sanford J.R. … Caceres J.F. (PLoS ONE 2008) 3 23
  5. The gene encoding the splicing factor SF2/ASF is a proto-oncogene. (PMID: 17310252) Karni R. … Krainer A.R. (Nat. Struct. Mol. Biol. 2007) 3 23

Products for SRSF1 Gene

Sources for SRSF1 Gene

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