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This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的剪接因子3b的蛋白复合物的亚单位1。剪接因子3B,与剪接因子3a和12S RNA单元一起,构成复杂U2小核核糖(U2核蛋白)。剪接因子3b中/ 3A复合物结合mRNA前体中的序列独立的方式的内含子的分支点的上游,并且可以锚U2核蛋白的前mRNA。剪接因子3b是也轻微U12型剪接的组分。亚基1的羧基末端三分之二有22个非相同,串联HEAT重复这种形式棒状,螺旋结构。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的,2008年7月提供]
SF3B1基因(以及对应的蛋白质)的细胞分布位置:
SF3B1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Chronic Lymphocytic Leukemia | 0.127057489 | 26 | 0 | BeFree_CTD_human |
Uveal melanoma | 0.122442977 | 9 | 0 | BeFree_CTD_human |
Leukemia, Myelocytic, Acute | 0.040444839 | 149 | 2 | BeFree |
Preleukemia | 0.013300652 | 49 | 0 | BeFree |
MYELODYSPLASTIC SYNDROME | 0.010857675 | 40 | 0 | BeFree |
Congenital chromosomal disease | 0.007871814 | 29 | 0 | BeFree |
Leukemia, Myelomonocytic, Chronic | 0.007600372 | 28 | 0 | BeFree |
leukemia | 0.004614512 | 17 | 0 | BeFree |
Monosomy | 0.004071628 | 15 | 0 | BeFree |
Myelodysplastic-Myeloproliferative Diseases | 0.004071628 | 15 | 0 | BeFree |
Refractory anaemia with excess blasts | 0.003528744 | 13 | 0 | BeFree |
Refractory anemias | 0.002985861 | 11 | 2 | BeFree |
Acute leukemia | 0.002985861 | 11 | 0 | BeFree |
Refractory anemia, without ringed sideroblasts, without excess blasts | 0.002985861 | 11 | 2 | BeFree |
Myelodysplasia | 0.002714419 | 10 | 0 | BeFree |
Chromosome 8, trisomy | 0.002442977 | 9 | 0 | BeFree |
Anemia | 0.001628651 | 6 | 0 | BeFree |
Malignant neoplasm of breast | 0.001628651 | 6 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.001628651 | 6 | 2 | BeFree |
Lymphoma | 0.001628651 | 6 | 0 | BeFree |
Myeloproliferative disease | 0.001628651 | 6 | 0 | BeFree |
Hematologic Neoplasms | 0.001628651 | 6 | 0 | BeFree |
Leukemogenesis | 0.001628651 | 6 | 0 | BeFree |
Breast Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Chronic myeloproliferative disorder | 0.001628651 | 6 | 0 | BeFree |
Primary Myelofibrosis | 0.001357209 | 5 | 0 | BeFree |
Aplastic Anemia | 0.001357209 | 5 | 0 | BeFree |
Hematological Disease | 0.001357209 | 5 | 0 | BeFree |
Acute Promyelocytic Leukemia | 0.001357209 | 5 | 0 | BeFree |
melanoma | 0.001357209 | 5 | 0 | BeFree |
Miller Dieker syndrome | 0.001357209 | 5 | 0 | BeFree |
Juvenile Myelomonocytic Leukemia | 0.001357209 | 5 | 0 | BeFree |
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 0.001357209 | 5 | 0 | BeFree |
Myeloid Leukemia | 0.001085767 | 4 | 0 | BeFree |
Leukopenia | 0.001085767 | 4 | 0 | BeFree |
Multiple Myeloma | 0.001085767 | 4 | 0 | BeFree |
secondary acute myeloid leukemia | 0.001085767 | 4 | 0 | BeFree |
5q-syndrome | 0.001085767 | 4 | 0 | BeFree |
Thrombocytosis | 0.001085767 | 4 | 2 | BeFree |
Myelodysplastic Syndrome with Isolated del(5q) | 0.001085767 | 4 | 0 | BeFree |
Therapy-related myelodysplastic syndrome | 0.001085767 | 4 | 0 | BeFree |
Treatment related acute myeloid leukaemia | 0.001085767 | 4 | 0 | BeFree |
Chromosome 5, trisomy 5q | 0.001085767 | 4 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000814326 | 3 | 0 | BeFree |
Myelofibrosis | 0.000814326 | 3 | 0 | BeFree |
Polycythemia Vera | 0.000814326 | 3 | 0 | BeFree |
Thrombocythemia, Essential | 0.000814326 | 3 | 0 | BeFree |
Refractory anemia with excess blasts in transformation (clinical) | 0.000814326 | 3 | 0 | BeFree |
Refractory anemia with excess blasts I | 0.000814326 | 3 | 0 | BeFree |
Myeloid neoplasm | 0.000814326 | 3 | 0 | BeFree |
Anemia, Macrocytic | 0.000542884 | 2 | 0 | BeFree |
Blast Phase | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Eosinophilia | 0.000542884 | 2 | 0 | BeFree |
Immune System Diseases | 0.000542884 | 2 | 0 | BeFree |
Movement Disorders | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Trisomy | 0.000542884 | 2 | 0 | BeFree |
Cutaneous Melanoma | 0.000542884 | 2 | 0 | BeFree |
secondary myelofibrosis | 0.000542884 | 2 | 0 | BeFree |
Iron Overload | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Leukemia secondary | 0.000542884 | 2 | 0 | BeFree |
Refractory anemia with ringed sideroblasts | 0.000542884 | 2 | 0 | BeFree |
Eosinophilic disorder | 0.000542884 | 2 | 0 | BeFree |
Refractory anemia with excess blasts II | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Disorder characterized by eosinophilia | 0.000542884 | 2 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000542884 | 2 | 0 | BeFree |
RETINOSCHISIS 1, X-LINKED, JUVENILE | 0.000542884 | 2 | 0 | BeFree |
Mucinous Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
Dystonia | 0.000271442 | 1 | 0 | BeFree |
Focal glomerulosclerosis | 0.000271442 | 1 | 0 | BeFree |
Graft-vs-Host Disease | 0.000271442 | 1 | 0 | BeFree |
Heart Diseases | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Lymphedema | 0.000271442 | 1 | 0 | BeFree |
Lymphocytosis | 0.000271442 | 1 | 0 | BeFree |
Liver Failure | 0.000271442 | 1 | 0 | BeFree |
Monocytosis | 0.000271442 | 1 | 0 | BeFree |
Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
Adult Acute Myeloblastic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Renal glomerular disease | 0.000271442 | 1 | 0 | BeFree |
Acquired aplastic anemia | 0.000271442 | 1 | 0 | BeFree |
Chronic lymphocytic leukaemia refractory | 0.000271442 | 1 | 0 | BeFree |
Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
Philadelphia chromosome positive chronic myelogenous leukemia | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
de novo myelodysplastic syndromes | 0.000271442 | 1 | 0 | BeFree |
Anaplastic astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Richter's syndrome | 0.000271442 | 1 | 0 | BeFree |
Prediabetes syndrome | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Hematopoietic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Dystonia Disorders | 0.000271442 | 1 | 0 | BeFree |
Dementia | 0.000271442 | 1 | 0 | BeFree |
Severe depression | 0.000271442 | 1 | 0 | BeFree |
Progressive Neoplastic Disease | 0.000271442 | 1 | 0 | BeFree |
Chromosome 12, 12p trisomy | 0.000271442 | 1 | 0 | BeFree |
myocardial hypoxia | 0.000271442 | 1 | 0 | BeFree |
Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome | 0.000271442 | 1 | 0 | BeFree |
Milroy Disease | 0.000271442 | 1 | 0 | BeFree |
CAMPOMELIC DYSPLASIA | 0.000271442 | 1 | 0 | BeFree |
Refractory anemia with ring sideroblasts associated with marked thrombocytosis | 0.000271442 | 1 | 0 | BeFree |
Emberger syndrome | 0.000271442 | 1 | 0 | BeFree |
Progressive cGVHD | 0.000271442 | 1 | 0 | BeFree |
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