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The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010]
SRSF9 (Serine And Arginine Rich Splicing Factor 9) is a Protein Coding gene. Diseases associated with SRSF9 include Aromatic L-Amino Acid Decarboxylase Deficiency and Spinocerebellar Ataxia 31. Among its related pathways are Cleavage of Growing Transcript in the Termination Region and Transport of Mature Transcript to Cytoplasm. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SRSF1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 10196175 |
GO:0019904 | protein domain specific binding | IPI | 10749975 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0016607 | nuclear speck | IBA | 21873635 |
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 | Herpes simplex virus 1 infection | ||
5 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IBA | 21873635 |
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0006376 | mRNA splice site selection | TAS | 7556075 |
GO:0006397 | mRNA processing | TAS | 7556075 |
GO:0006405 | RNA export from nucleus | TAS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | - | - | - | ||||||||||||||
SP3: | |||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SRSF9 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SFRS9 31 |
|
OneToOne | |
SRSF9 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | SRSF9 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Srsf9 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Srsf9 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SRSF9 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SRSF9 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | srsf9 30 |
|
||
Str.8004 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | srsf9 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.98 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | SF2 31 |
|
ManyToMany | |
Rsf1 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | rsp-3 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NPL3 31 33 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SRp34a 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.3227 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.10359 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5260 31 |
|
ManyToMany | |
CSA.1451 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708410 | Benign: not provided | 120,465,781(-) | T/C | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2579823 | CNV | insertion | 19546169 |
nsv1069702 | CNV | deletion | 25765185 |
nsv1145631 | CNV | deletion | 24896259 |
nsv509482 | CNV | insertion | 20534489 |
nsv983370 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aromatic l-amino acid decarboxylase deficiency |
|
|
spinocerebellar ataxia 31 |
|
|
frontotemporal dementia |
|
|