Entity Details

Primary name U2AF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ01081
EntryNameU2AF1_HUMAN
FullNameSplicing factor U2AF 35 kDa subunit
TaxID9606
Evidenceevidence at protein level
Length240
SequenceStatuscomplete
DateCreated1993-04-01
DateModified2021-06-02

Ontological Relatives

GO terms

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GOName
GO:0000398 mRNA splicing, via spliceosome
GO:0003723 RNA binding
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0008380 RNA splicing
GO:0015030 Cajal body
GO:0016607 nuclear speck
GO:0030628 pre-mRNA 3'-splice site binding
GO:0031124 mRNA 3'-end processing
GO:0046872 metal ion binding
GO:0071013 catalytic step 2 spliceosome
GO:0089701 U2AF complex

Subcellular Location

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Subcellular Location
Nucleus
Nucleus speckle

Domains

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DomainNameCategoryType
IPR000504 RNA recognition motif domainDomainDomain
IPR000571 Zinc finger, CCCH-typeDomainDomain
IPR003954 RNA recognition motif domain, eukaryoteDomainDomain
IPR009145 U2 auxiliary factor small subunitFamilyFamily
IPR012677 Nucleotide-binding alpha-beta plait domain superfamilyFamilyHomologous superfamily
IPR035979 RNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614286 OMIMMyelodysplastic syndrome (MDS)A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). The gene represented in this entry may be involved in disease pathogenesis. Mutation altering U2AF1 function in the context of specific RNA sequences can lead to aberrant alternative splicing of target genes, some of which may be relevant for MDS pathogenesis.

Interactions

60 interactions

InteractorPartnerSourcesPublicationsLink
U2AF1_HUMANCIR1_HUMANBioGRID, IntAct15652350 details
U2AF1_HUMANU2AF2_HUMANBioGRID, HPRD, IntAct, MINT, UniProt11551507 1388271 16189514 21460037 21516116 21988832 22365833 22939629 25416956 26264872 26344197 26641092 28514442 32296183 details
U2AF1_HUMANRNPS1_HUMANBioGRID, IntAct, MINT17353931 22365833 25416956 details
U2AF1_HUMANSRSF1_HUMANBioGRID, HPRD, IntAct, UniProt18559666 21988832 22939629 8261509 8816452 9799243 details
U2AF1_HUMANVEGFA_HUMANBioGRID, IntAct21988832 details
U2AF1_HUMANSF3B2_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANNKAP_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANSMD1_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANPR40A_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANCHERP_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANRBM10_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANPRP4_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANPR38A_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANPRP19_HUMANBioGRID, MINT22365833 22939629 details
U2AF1_HUMANMFAP1_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANPRP16_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANF10C1_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANSRSF2_HUMANBioGRID, HPRD, MINT, UniProt18559666 22365833 8261509 8816452 details
U2AF1_HUMANTOE1_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANZCH10_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANPABP1_HUMANBioGRID, MINT22365833 details
U2AF1_HUMANSRPK1_HUMANBioGRID, HPRD, IntAct, MINT22365833 23602568 28514442 9472028 details
U2AF1_HUMANSRPK2_HUMANBioGRID, IntAct, MINT22365833 23602568 25416956 28514442 details
U2AF1_HUMANSUV91_HUMANBioGRID, MINT23455924 details
U2AF1_HUMANJMJD6_HUMANBioGRID, IntAct, MINT23455924 28514442 details
U2AF1_HUMANCLK2_HUMANBioGRID, IntAct25416956 details
U2AF1_HUMANAP2B1_HUMANBioGRID, IntAct25416956 32296183 details
U2AF1_HUMANHNRPK_HUMANBioGRID, IntAct25416956 29892012 details
U2AF1_HUMANNECD_HUMANBioGRID, IntAct24722188 26871637 details
U2AF1_HUMANCARME_HUMANBioGRID, IntAct28514442 32296183 details
U2AF1_HUMANSRSF3_HUMANBioGRID, UniProt18559666 32296183 details
U2AF1_HUMANSARNP_HUMANUniProt18559666 details
U2AF1_HUMANATX1_HUMANBioGRID, IntAct, UniProt25959826 32814053 details
U2AF1_HUMANHD_HUMANIntAct32814053 details
U2AF1_HUMANHMGB2_HUMANUniProt31694235 32867128 details
U2AF1_HUMANRP9_HUMANBioGRID, HPRD15474994 details
U2AF1_HUMANZRAB2_HUMANBioGRID, HPRD11448987 details
U2AF1_HUMANNXF1_HUMANBioGRID, HPRD11724776 details
U2AF1_HUMANHINFP_HUMANBioGRID17577209 details
U2AF1_HUMANHNRPM_HUMANBioGRID20467437 22939629 details
U2AF1_HUMANMLH1_HUMANBioGRID32296183 details
U2AF1_HUMANAP1B1_HUMANBioGRID32296183 details
U2AF1_HUMANMEOX2_HUMANBioGRID32296183 details
U2AF1_HUMANTRA2B_HUMANBioGRID32296183 details
U2AF1_HUMANSRRM4_HUMANBioGRID32296183 details
U2AF1_HUMANK2C1_HUMANBioGRID32296183 details
U2AF1_HUMANK2C75_HUMANBioGRID32296183 details
U2AF1_HUMANZN417_HUMANBioGRID32296183 details
U2AF1_HUMANEFHC2_HUMANBioGRID32296183 details
U2AF1_HUMANU1SBP_HUMANBioGRID32296183 details
U2AF1_HUMANPTEN_HUMANBioGRID31685992 32249768 details
U2AF1_HUMANU2AFM_HUMANHPRD9237760 details
U2AF1_HUMANSF3A2_HUMANBioGRID, MINT12234937 17332742 details
U2AF1_HUMANNOP56_HUMANBioGRID12777385 22939629 details
U2AF1_HUMANTERF1_HUMANBioGRID24389012 details
U2AF1_HUMANCFA20_HUMANBioGRID26472758 details
U2AF1_HUMANSMG7_HUMANBioGRID29395067 details
U2AF1_HUMANSF3A3_HUMANHPRD11533230 details
U2AF1_HUMANMAP1B_HUMANHPRD16014633 details
U2AF1_HUMANEPB41_HUMANHPRD9645944 details