U2AF1 (U2 small nuclear RNA auxiliary factor 1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7307 |
Gene nameGene Name - the full gene name approved by the HGNC.
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U2 small nuclear RNA auxiliary factor 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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U2AF1 |
SynonymsGene synonyms aliases
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FP793, RN, RNU2AF1, U2AF35, U2AFBP |
ChromosomeChromosome number
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21 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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21q22.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which pl |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000398 |
Process |
MRNA splicing, via spliceosome |
IBA |
21873635 |
GO:0000398 |
Process |
MRNA splicing, via spliceosome |
IC |
9731529, 11991638 |
GO:0000398 |
Process |
MRNA splicing, via spliceosome |
TAS |
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GO:0003723 |
Function |
RNA binding |
HDA |
22658674, 22681889 |
GO:0005515 |
Function |
Protein binding |
IPI |
11551507, 15652350, 16189514, 17577209, 18559666, 20696395, 21460037, 21516116, 21988832, 22365833, 23455924, 23602568, 25416956, 25959826, 28514442, 32814053 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
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GO:0005654 |
Component |
Nucleoplasm |
TAS |
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GO:0005681 |
Component |
Spliceosomal complex |
IBA |
21873635 |
GO:0005681 |
Component |
Spliceosomal complex |
IDA |
9731529 |
GO:0006397 |
Process |
MRNA processing |
TAS |
1388271 |
GO:0006405 |
Process |
RNA export from nucleus |
TAS |
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GO:0006406 |
Process |
MRNA export from nucleus |
TAS |
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GO:0008380 |
Process |
RNA splicing |
TAS |
1388271 |
GO:0015030 |
Component |
Cajal body |
TAS |
1388271 |
GO:0016607 |
Component |
Nuclear speck |
ISS |
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GO:0030628 |
Function |
Pre-mRNA 3'-splice site binding |
IBA |
21873635 |
GO:0031124 |
Process |
MRNA 3'-end processing |
TAS |
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GO:0046872 |
Function |
Metal ion binding |
IEA |
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GO:0071013 |
Component |
Catalytic step 2 spliceosome |
IDA |
11991638 |
GO:0089701 |
Component |
U2AF complex |
IBA |
21873635 |
GO:0089701 |
Component |
U2AF complex |
IDA |
1824937, 2531895 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q01081 |
Protein name |
Splicing factor U2AF 35 kDa subunit (U2 auxiliary factor 35 kDa subunit) (U2 small nuclear RNA auxiliary factor 1) (U2 snRNP auxiliary factor small subunit) |
Protein function |
Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly med |
PDB |
1JMT
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00642 |
zf-CCCH |
13 → 39 |
Zinc finger C-x8-C-x5-C-x3-H type (and similar) |
Family |
PF00076 |
RRM_1 |
82 → 141 |
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) |
Domain |
PF00642 |
zf-CCCH |
149 → 175 |
Zinc finger C-x8-C-x5-C-x3-H type (and similar) |
Family |
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Sequence |
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Sequence length |
240 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Carcinoma of the head and neck |
Squamous cell carcinoma of the head and neck |
rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001, rs786201838, rs587782144, rs866775781, rs730882008, rs1567549584, rs1597371666, rs1597365075 |
26619011 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
24498085, 26619011, 23029227, 22158538 |
Lung adenocarcinoma |
Adenocarcinoma of lung (disorder) |
rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 |
26619011 |
Myelodysplastic syndrome |
MYELODYSPLASTIC SYNDROME |
rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587 |
23861105, 26619011, 22158538, 25311244 |
Osteoporosis |
Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
18924182 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29610475 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Uterine cervix neoplasm |
Uterine Cervical Neoplasm |
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26619011 |
Endometrial cancer |
Uterine Carcinosarcoma |
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26619011 |
Lymphocytic leukemia |
Chronic Lymphocytic Leukemia |
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Malignant uterine corpus neoplasm |
Malignant Uterine Corpus Neoplasm |
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26619011 |
Pancreatic adenocarcinoma |
Adenocarcinoma of pancreas |
rs121908291, rs139375029, rs587780197, rs587780198, rs587780200, rs374741161, rs368806050, rs113676921, rs587780753, rs550499593, rs143544548, rs587780754, rs587780755, rs587780756, rs114593924, rs587780757, rs587780758, rs532961259, rs587780759, rs535155432, rs543821321, rs587780760, rs587780761, rs368350042, rs368890611, rs200060953, rs559000839, rs587780762, rs142116575, rs150764613, rs62333013, rs59633770, rs370602081, rs759105985, rs535118290, rs528879194, rs863224705, rs758706279, rs780516159, rs863224383, rs863224384, rs777359545, rs863224385, rs570874237, rs863224386, rs753092219, rs769161509, rs143417961, rs140360991, rs201707558, rs863224702, rs754158038, rs863224382, rs761530979, rs780692056, rs863224703, rs114250766, rs113515140, rs863224704, rs561750970, rs864622627, rs864622590, rs864622422, rs864622140, rs730882137, rs864622087, rs864622226, rs864622591, rs864622321, rs864622158, rs864622531, rs767729090, rs749041581, rs768485147, rs864622234, rs864622355, rs864622316, rs864622388, rs764242515, rs778134231, rs771679229, rs746599370, rs551131343, rs878854264, rs878854265, rs878854266, rs878854267, rs878854268, rs376654786, rs373500403, rs114171764, rs376394488, rs61051061, rs1806729, rs548068667, rs781516286, rs1059444, rs750112132, rs7673220, rs1060502975, rs778471055, rs925242863, rs143717202, rs372414187, rs927644209, rs764265611, rs1060502976, rs554297134, rs997146277, rs1060502974, rs1060504775, rs200020758, rs1060502973, rs777453756, rs952110792, rs1553965295, rs1553973196, rs1177108180, rs1477864263, rs368472947, rs182571219, rs1553984987, rs1263751006, rs201979617, rs1358006173, rs151071844, rs115937217, rs568490721, rs189021816, rs1319983866, rs1553965480, rs1553969553, rs1385898569, rs1553965526, rs1553968628, rs763802548, rs752296365, rs1553965214, rs1474793366, rs1553965326, rs778313832, rs1318598425, rs1470434769, rs755223646, rs557697540, rs747702421, rs1560940853, rs1560839872, rs1216822754, rs751364707, rs372708613, rs1560929667, rs1306250811, rs774034818, rs551420048, rs1581871066, rs1221751077, rs1220928329, rs759161069, rs757164572, rs115274645, rs769973229, rs115988233, rs767384375, rs778210310, rs1305250587, rs1239099971, rs1025237623, rs1211489449, rs900642927, rs1400689367, rs140584890, rs757885388, rs1231114395, rs996343137, rs1275232115, rs1046350904, rs762267147, rs373066707, rs867266337, rs1460784357, rs748432333, rs769517051, rs1560937938, rs750033888, rs781065277, rs1751999027, rs1246689760, rs1752077261, rs1754079127, rs1754736103, rs1757056910, rs114673468, rs756934356, rs1176026649, rs1762161869, rs200399043, rs1447433925, rs1389221540, rs893660432, rs1762582426 |
26619011 |
Prostatic neoplasms |
Prostatic Neoplasms |
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29610475 |
Bladder carcinoma |
Transitional cell carcinoma of bladder |
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26619011 |
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