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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]
SRSF1 (Serine And Arginine Rich Splicing Factor 1) is a Protein Coding gene. Diseases associated with SRSF1 include Retinitis Pigmentosa 4 and Homocystinuria. Among its related pathways are Cleavage of Growing Transcript in the Termination Region and mRNA Splicing - Minor Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ENSG00000266086.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 21984414 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005681 | spliceosomal complex | IEA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 24449914 |
GO:0016607 | nuclear speck | IDA | 20797886 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
2 | Cleavage of Growing Transcript in the Termination Region | ||
3 | Transport of Mature Transcript to Cytoplasm | ||
4 | Translational Control | ||
5 | Herpes simplex virus 1 infection |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 249 |
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: | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SRSF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SRSF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SRSF1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Srsf1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Srsf1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SRSF1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SRSF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SRSF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SRSF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | srsf1 30 |
|
||
Str.6578 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | srsf1b 31 |
|
OneToMany | |
srsf1a 30 31 |
|
OneToMany | |||
-- 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010496 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | SF2 30 31 |
|
ManyToMany | |
Rsf1 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | rsp-3 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NPL3 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G02430 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.560 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5260 31 |
|
ManyToMany | |
CSA.1451 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1555575855 | Uncertain Significance: not provided | 58,006,433(-) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
VAR_035488 | A breast cancer sample | p.Pro89Ser |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 4 |
|
|
homocystinuria |
|
|
congenital myasthenic syndrome |
|
|
endometrial stromal tumor |
|
|
rothmund-thomson syndrome, type 2 |
|
|