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This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]
SF3A1 (Splicing Factor 3a Subunit 1) is a Protein Coding gene. Diseases associated with SF3A1 include Retinitis Pigmentosa 61 and Colorectal Cancer. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include RNA binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA,IDA | 10882114 |
GO:0005515 | protein binding | IPI | 10976766 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 10882114 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005681 | spliceosomal complex | IDA | 9731529 |
GO:0005684 | U2-type spliceosomal complex | IDA | 10882114 |
GO:0005686 | U2 snRNP | IDA | 10882114 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000389 | mRNA 3'-splice site recognition | TAS | 15647371 |
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0006396 | RNA processing | IEA | -- |
GO:0006397 | mRNA processing | IMP | 15647371 |
GO:0008380 | RNA splicing | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 17 | ^ | 18 |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: | |||
SP10: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SF3A1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SF3A1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SF3A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SF3A1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sf3a1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sf3a1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SF3A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SF3A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SF3A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC734097 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7478 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sf3a1 30 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011328 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG16941 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | prp-21 30 31 32 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C03322g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PRP21 31 33 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR645W 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os.7264 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6505 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU01913 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | sap114 30 |
|
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
777682 | Benign: not provided | 30,344,925(-) | C/G | INTRON_VARIANT | |
rs765594577 | A colorectal cancer sample | p.Arg511Trp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1167139 | CNV | deletion | 17803354 |
esv2724134 | CNV | deletion | 23290073 |
esv2724135 | CNV | deletion | 23290073 |
esv2724136 | CNV | deletion | 23290073 |
esv3234984 | CNV | deletion | 24192839 |
esv3558050 | CNV | deletion | 23714750 |
esv996703 | CNV | deletion | 20482838 |
nsv1064350 | CNV | gain | 25217958 |
nsv1066179 | CNV | gain | 25217958 |
nsv1110864 | OTHER | inversion | 24896259 |
nsv3593 | CNV | deletion | 18451855 |
nsv829171 | CNV | loss | 20364138 |
nsv834174 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 61 |
|
|
colorectal cancer |
|
|