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U2AF1 (U2 small nuclear RNA auxiliary factor 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7307
Gene nameGene Name - the full gene name approved by the HGNC.
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.
U2AF1
SynonymsGene synonyms aliases
FP793, RN, RNU2AF1, U2AF35, U2AFBP
ChromosomeChromosome number
21
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
SummarySummary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT452698 hsa-miR-3166 PAR-CLIP 20371350
MIRT452699 hsa-miR-1287-3p PAR-CLIP 20371350
MIRT452698 hsa-miR-3166 PAR-CLIP 20371350
MIRT452699 hsa-miR-1287-3p PAR-CLIP 20371350
MIRT452698 hsa-miR-3166 PAR-CLIP 20371350
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
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
Sequence
MAEYLASIFGTEKDKVNCSFYFKIGACRHGDRCSRLHNKPTFSQTIALLNIYRNPQNSSQ
SADGLRCAVSDVEMQEHYDEFFEEVFTEMEEKYGEVEEMNVCDNLGDHLVGNVYVKFRRE
EDAEKAVIDLNNRWFNGQPIH
AELSPVTDFREACCRQYEMGECTRGGFCNFMHLKPISRE
LRRELYGRRRKKHRSRSRSRERRSRSRDRGRGGGGGGGGGGGGRERDRRRSRDRERSGRF
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.
 
KEGG
 
Reactome
  Spliceosome
Shigellosis
  Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Associated diseases
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
Unknown
Disease name Disease term dbSNP ID References
Uterine cervix neoplasm Uterine Cervical Neoplasm 26619011
Endometrial cancer Uterine Carcinosarcoma 26619011
Lymphocytic leukemia Chronic Lymphocytic Leukemia
Malignant uterine corpus neoplasm Malignant Uterine Corpus Neoplasm 26619011

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