Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7307
Gene name	U2 small nuclear RNA auxiliary factor 1
Gene symbol	U2AF1
Synonyms (NCBI Gene)	FP793RNRNU2AF1U2AF35U2AFBP
Chromosome	21
Chromosome location	21q22.3
Summary	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

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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
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	21572407
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT452698	hsa-miR-3166	PAR-CLIP	21572407
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT452698	hsa-miR-3166	PAR-CLIP	23446348
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT452698	hsa-miR-3166	PAR-CLIP	23446348
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT452698	hsa-miR-3166	PAR-CLIP	24398324
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	24398324
MIRT452698	hsa-miR-3166	PAR-CLIP	23592263
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23592263
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	26701625
MIRT452698	hsa-miR-3166	PAR-CLIP	26701625
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
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	21572407
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT452698	hsa-miR-3166	PAR-CLIP	21572407
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT452698	hsa-miR-3166	PAR-CLIP	23446348
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT452698	hsa-miR-3166	PAR-CLIP	23446348
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT452698	hsa-miR-3166	PAR-CLIP	24398324
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	24398324
MIRT452698	hsa-miR-3166	PAR-CLIP	23592263
MIRT452699	hsa-miR-1287-3p	PAR-CLIP	23592263
MIRT1465944	hsa-miR-133a	CLIP-seq
MIRT1465945	hsa-miR-133b	CLIP-seq
MIRT1465946	hsa-miR-3545-3p	CLIP-seq
MIRT1465947	hsa-miR-4705	CLIP-seq
MIRT1465948	hsa-miR-548ag	CLIP-seq
MIRT1465949	hsa-miR-548ai	CLIP-seq
MIRT1465950	hsa-miR-548c-3p	CLIP-seq
MIRT1465951	hsa-miR-582-3p	CLIP-seq
MIRT1465952	hsa-miR-1273d	CLIP-seq
MIRT1465953	hsa-miR-1283	CLIP-seq
MIRT1465944	hsa-miR-133a	CLIP-seq
MIRT1465945	hsa-miR-133b	CLIP-seq
MIRT1465954	hsa-miR-297	CLIP-seq
MIRT1465955	hsa-miR-3149	CLIP-seq
MIRT1465956	hsa-miR-34c-3p	CLIP-seq
MIRT1465946	hsa-miR-3545-3p	CLIP-seq
MIRT1465957	hsa-miR-3622b-5p	CLIP-seq
MIRT1465958	hsa-miR-4307	CLIP-seq
MIRT1465959	hsa-miR-452	CLIP-seq
MIRT1465960	hsa-miR-4676-3p	CLIP-seq
MIRT1465947	hsa-miR-4705	CLIP-seq
MIRT1465948	hsa-miR-548ag	CLIP-seq
MIRT1465949	hsa-miR-548ai	CLIP-seq
MIRT1465950	hsa-miR-548c-3p	CLIP-seq
MIRT1465961	hsa-miR-567	CLIP-seq
MIRT1465951	hsa-miR-582-3p	CLIP-seq
MIRT1465962	hsa-miR-590-3p	CLIP-seq
MIRT1465952	hsa-miR-1273d	CLIP-seq
MIRT1465953	hsa-miR-1283	CLIP-seq
MIRT1465944	hsa-miR-133a	CLIP-seq
MIRT1465945	hsa-miR-133b	CLIP-seq
MIRT1465956	hsa-miR-34c-3p	CLIP-seq
MIRT1465946	hsa-miR-3545-3p	CLIP-seq
MIRT1465957	hsa-miR-3622b-5p	CLIP-seq
MIRT1465959	hsa-miR-452	CLIP-seq
MIRT1465960	hsa-miR-4676-3p	CLIP-seq
MIRT1465947	hsa-miR-4705	CLIP-seq
MIRT1465948	hsa-miR-548ag	CLIP-seq
MIRT1465949	hsa-miR-548ai	CLIP-seq
MIRT1465950	hsa-miR-548c-3p	CLIP-seq
MIRT1465951	hsa-miR-582-3p	CLIP-seq
MIRT1465962	hsa-miR-590-3p	CLIP-seq
MIRT1465952	hsa-miR-1273d	CLIP-seq
MIRT1465953	hsa-miR-1283	CLIP-seq
MIRT1465944	hsa-miR-133a	CLIP-seq
MIRT1465945	hsa-miR-133b	CLIP-seq
MIRT2360799	hsa-miR-3127-3p	CLIP-seq
MIRT1465956	hsa-miR-34c-3p	CLIP-seq
MIRT1465946	hsa-miR-3545-3p	CLIP-seq
MIRT1465957	hsa-miR-3622b-5p	CLIP-seq
MIRT1465947	hsa-miR-4705	CLIP-seq
MIRT1465948	hsa-miR-548ag	CLIP-seq
MIRT1465949	hsa-miR-548ai	CLIP-seq
MIRT1465950	hsa-miR-548c-3p	CLIP-seq
MIRT1465951	hsa-miR-582-3p	CLIP-seq
MIRT1465962	hsa-miR-590-3p	CLIP-seq
MIRT1465952	hsa-miR-1273d	CLIP-seq
MIRT1465962	hsa-miR-590-3p	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	9731529, 11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	32343311
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11551507, 15652350, 16189514, 17577209, 18559666, 20696395, 21460037, 21516116, 21988832, 22365833, 23455924, 23602568, 25416956, 25959826, 28514442, 29892012, 32296183, 32814053, 33961781, 35271311, 39251607
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IBA
GO:0005681	Component	Spliceosomal complex	IDA	9731529
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	11551507
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	TAS	1388271
GO:0008270	Function	Zinc ion binding	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	1388271
GO:0015030	Component	Cajal body	TAS	1388271
GO:0016607	Component	Nuclear speck	IEA
GO:0016607	Component	Nuclear speck	ISS
GO:0030628	Function	Pre-mRNA 3'-splice site binding	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0050733	Function	RS domain binding	IEA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0089701	Component	U2AF complex	IBA
GO:0089701	Component	U2AF complex	IDA	1824937, 2531895
GO:0089701	Component	U2AF complex	IEA
GO:0089701	Component	U2AF complex	IPI	11551507

MIM	HGNC	e!Ensembl
191317	12453	ENSG00000160201

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
EDAEKAVIDLNNRWFNGQPIHAELSPVTDFREACCRQYEMGECTRGGFCNFMHLKPISRE
LRRELYGRRRKKHRSRSRSRERRSRSRDRGRGGGGGGGGGGGGRERDRRRSRDRERSGRF

Sequence length

240

Interactions

View interactions

	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

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	-	rs371246226	RCV006158385
Neoplasm	-	rs371769427	RCV006273212
U2AF1-related disorder	Benign	rs139959814	RCV003963892

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	37535147
Acute erythroleukemia	Associate	35967966
Adenocarcinoma of Lung	Associate	22980975, 24498085, 29991672, 37487637
Anemia Aplastic	Associate	37087521
Anemia Hemolytic	Associate	36129843
Ataxia Telangiectasia	Associate	29395063
Atypical Squamous Cells of the Cervix	Associate	37735430
Bjornstad syndrome	Associate	37558665
Bone Marrow Diseases	Associate	35427424
Cell Transformation Neoplastic	Associate	33087122
Chromosome 6 trisomy 6q	Associate	40066790
Chromosome 8 trisomy	Associate	26508027, 28220884
Chromosome Aberrations	Associate	33122737
Coronary Artery Disease	Associate	39460851
Death	Associate	32068246
Disseminated Intravascular Coagulation	Associate	40066790
Erdheim Chester Disease	Associate	31015311
Essential Tremor	Associate	31945802, 34402416
Fibrosis	Associate	29057546
GATA2 Deficiency	Associate	37735430
Genetic Diseases Inborn	Associate	35942592
Head and Neck Neoplasms	Associate	34635145
Heart Arrest	Associate	40066790
Hematologic Diseases	Associate	34581783
Hematologic Neoplasms	Associate	25267526
Hematoma	Associate	40066790
Hemoglobinuria Paroxysmal	Associate	25244093
Hemolysis	Associate	36129843
Hepatitis E	Associate	28464892
Hypotension	Associate	36485103
Leukemia	Associate	23861105, 25267526, 25326705, 26732650, 37967363
Leukemia Biphenotypic Acute	Associate	40066790
Leukemia Lymphocytic Chronic B Cell	Associate	32001512
Leukemia Myeloid	Associate	23775717
Leukemia Myeloid Acute	Associate	22158538, 22773603, 23029227, 24498085, 25331116, 25412851, 25550361, 26799334, 29321554, 32001512, 32112433, 32380535, 32699322, 32732356, 33122737 View all (13 more)
Leukemia Myeloid Chronic Atypical BCR ABL Negative	Associate	31692115, 36375042
Leukemia Myelomonocytic Chronic	Associate	22323480, 22773603, 23335386
Leukemia Myelomonocytic Juvenile	Associate	22773603
Leukemia Neutrophilic Chronic	Associate	33822276, 36375042
Leukemia Promyelocytic Acute	Associate	26886259
Leukopenia	Associate	35766510
Lung Neoplasms	Associate	29991672
Mastocytosis Systemic	Associate	22238327, 23958953
Migraine Disorders	Associate	28801450
Muscular Atrophy Spinal	Associate	33438800
Myelodysplastic Syndromes	Associate	22158538, 22238327, 22323480, 22343920, 22389253, 23029227, 23861105, 25311244, 26115659, 26508027, 26799334, 26848861, 27255165, 27419369, 28220884 View all (35 more)
Neoplasms	Associate	22323480, 23335386, 23775717, 24498085, 25244093, 25271374, 26799334, 27492256, 28436936, 28893951, 30842218, 31011167, 31015311, 32001512, 32753690 View all (12 more)
Neural Tube Defects	Associate	25412851, 30194306, 32343311, 33689684
Pancreatic Neoplasms	Associate	36292918
Pancytopenia	Associate	27255165
Pituitary Neoplasms	Associate	33261069
Polycythemia Vera	Associate	28464892
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	34581783
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	27602765, 31011167, 32068246, 40066790
Primary Myelofibrosis	Associate	27447873, 28464892, 30625392, 31945802, 33666653, 37735430, 38386293
Renal Tubular Acidosis Distal With Normal Red Cell Morphology	Associate	25412851
Thrombocythemia Essential	Associate	27991718
Thrombocytopenia	Associate	35942592
Wolf Hirschhorn Syndrome	Associate	37535147

U2AF1 (U2 small nuclear RNA auxiliary factor 1)