SF3A1

SF3A1

A gene on chromosome 22q12.2 that encodes subunit 1 of the splicing factor SF3A, which is required for “A” complex assembly by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA. It may anchor U2 snRNP to pre-mRNA and be involved in assembling the “E” complex.
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Novel mutations identified in hematological malignancies Spliceosomal proteins: SF3B1, SRSF2, U2AF1, ZRSRS2, SF3A1, U2AF65, SF1 Epigenetic factors: TET2, IDH1/IDH2, ASXL1/ASXL2, EZH2, DNMT3A, EED, Suz12 Signaling proteins: CBL, Calreticulin (CALR), SETBP1, GNAS, RHOA Cohesin complex and related proteins: STAG2, SMC1A, SMC3, RAD21, CTCF1
8] ([beta]-actin), PSMC4 (proteasome 26S subunit, ATPase, 4), PUM1 (pumilio homolog 1, Drosophila), MRPL19 (mitochondrial ribosomal protein L19), and SF3A1 (splicing factor 3a, subunit 1, 120 kDa)].
8] Human genes: ACTB, [beta]-actin; PSMC4, proteasome 26S subunit, ATPase, 4; PUM1, pumilio homolog 1, Drosophila; MRPL19, mitochondrial ribosomal protein L19; SF3A1, splicing factor 3a, subunit 1, 120 kDa; ERBB2, v-erb-b2 erythroblastic leukemia viral oncogen homolog 2; ESR1, estrogen receptor 1; ICBM, immunoglobulin binding protein 1.