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FLASH GENE
Symbol U2AF1 contributors: mct/npt/pgu - updated : 26-11-2013
HGNC name U2 small nuclear RNA auxiliary factor 1
HGNC id 12453
Location 21q22.3      Physical location : 44.513.065 - 44.527.688
Synonym name
  • U2(RNU2) small nuclear RNA auxillary factor 1
  • U2 auxiliary factor 35 kDa subunit
  • U2 snRNP auxiliary factor small subunit
  • splicing factor U2AF 35kDa subunit
  • Synonym symbol(s) RNU2AF1, U2AF35, RN, FP793, U2AFBP, DKFZp313J1712
    DNA
    TYPE functioning gene
    STRUCTURE 14.65 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    TFF3 21q22.3 trefoil factor 3 (intestinal) TFF2 21q22.3 trefoil factor 2 (spasmolytic protein 1) TFF1 21q22.3 trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) TMPRSS3 21q22.3 transmembrane protease, serine 3 UBASH3A 21q22.3 ubiquitin associated and SH3 domain containing, A TSGA2 21q22.3 testes specific A2 homolog (mouse) SLC37A1 21q22.3 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 PDE9A 21q22.3 phosphodiesterase 9A WDR4 21q22.3 WD repeat domain 4 NDUFV3 21q22.3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa PKNOX1 21q22.3 PBX/knotted 1 homeobox 1 CBS 21q22.3 cystathionine-beta-synthase U2AF1 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 MRPL51P2 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 LOC388829 21 LOC388829 CRYAA 21q22.3 crystallin, alpha A SNF1LK 21q22.3 SNF1-like kinase C21orf125 21 chromosome 21 open reading frame 125 C21orf84 21q22.1 chromosome 21 open reading frame 84 HSF2BP 21q22.3 heat shock transcription factor 2 binding protein RPL31P1 21q22.3 ribosomal protein L31 pseudogene 1 H2BFS 21q22.3 H2B histone family, member S KIAA0179 21q22.3 H2B histone family, member S PDXK 21q22.3 pyridoxal (pyridoxine, vitamin B6) kinase C21orf124 21q22.3 chromosome 21 open reading frame 124 C21orf97 21q22.3 chromosome 21 open reading frame 97 CSTB 21q22.3 cystatin B (stefin B) D21S2056E 21q22.3 DNA segment on chromosome 21 (unique) 2056 expressed sequence LOC284837 21q22.3 hypothetical protein LOC284837 MYL6P 21q22.3 myosin, light polypeptide 6, pseudogene AGPAT3 21q22.3 1-acylglycerol-3-phosphate O-acyltransferase 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 971 27.7 240 - 2006 16940179
    variant a
    9 - 1038 19.6 167 - 2006 16940179
    variant c
    8 - 971 27.7 240 - 2006 16940179
    variant b
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • SR domain interrupted by a glycine stretch, RNA recognition motif
  • N-terminal domain containing two zinc fingers identical to U2Af1L4, as well as a non-canonical RRM
  • C-terminal domain containing an RS domain interrupted by a glycine stretch
  • HOMOLOGY
    Homologene
    FAMILY
  • SR family of splicing factors
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text distributed throughout the nucleoplasm, where transcription occurs, with additional concentration in nuclear speckles, where splicing factors accumulate when not engaged in splicing
    basic FUNCTION
  • playing 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
  • playing a role in the recruitment of U2AF2 by serine-arginine-rich (SR) proteins in enhancer-dependent splicing
  • rather than being required for splicing of all pre-mRNA substrates containing a weak polypyrimidine tract, regulates the selection of weak 3prime splice sites in a specific subset of cellular transcripts
  • small (35 kDa) subunit of the U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) that is involved in pre-mRNA processing (splicing)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with U2AF2 to form the essential splicing factor U2AF (U2 auxiliary factor)
  • U2 snRNP auxiliary factor (U2AF) is an essential splicing factor composed of two subunits, a large, 65-kDa subunit (U2AF(65)) and a small subunit, U2AF(35)
  • SF1 and U2AF form extraspliceosomal complexes before and after taking part in the assembly of catalytic spliceosomes
  • INTERACTION
    DNA
    RNA RNA binding
    small molecule
    protein
  • interacting with ZRANB2
  • interacting with SMNDC1
  • ZRSR2 physically interacts with U2AF2, as well as SRSF1 and SRSF2, with a distinct function from its homologue, U2AF1
  • CIR1 interact with U2AF1 through the BA domain, with SRSF2 and SF2/ASF through the RS domain, and with RP9 outside the BA domain
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in myelodysplasia , mutations playing a significant role in myeloid leukemogenesis due to selective missplicing of tumor-associated genes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS