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Q01081 of Proteins C3H1-type domain repeats
Uniprot ID:Q01081
Protein name: Splicing factor U2AF 35 kDa subunit
Gene : U2AF1 U2AF35 U2AFBP FP793
Protein Family:Splicing factor SR family
Squence Length : 240
Sequnce
>Q01081 241 MAEYLASIFGTEKDKVNCSFYFKIGACRHGDRCSRLHNKPTFSQTIALLNIYRNPQNSSQSADGLRCAVSDVEMQEHYDEFFEEVFTEMEEKYGEVEEMNVCDNLGDHLVGNVYVKFRREEDAEKAVIDLNNRWFNGQPIHAELSPVTDFREACCRQYEMGECTRGGFCNFMHLKPISRELRRELYGRRRKKHRSRSRSRERRSRSRDRGRGGGGGGGGGGGGRERDRRRSRDRERSGRF
C3H1-type domains repeats
ZN_FING 12 40 C3H1-type 1 ZN_FING 149 176 C3H1-type 2
Domin repeated regions
12 - 40 EKDKVNCSFYFKIGACRHGDRCSRLHNKP 149 - 176 DFREACCRQYEMGECTRGGFCNFMHLKP
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 mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron
Mutation
134 134 W->A: Decreases affinity for UAF2 by 3 orders of magnitude
Disease
"DISEASE: Myelodysplastic syndrome (MDS) [MIM:614286]: 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) Note=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"