U2AF1 - U2 small nuclear RNA auxiliary factor 1 Gene
Also Known as RN; FP793; U2AF35; U2AFBP; RNU2AF1
Species: Homo sapiens
About U2AF1
This gene has 11 transcripts (splice variants), 276 orthologues, 2 paralogues and is associated with 87 phenotypes. Ubiquitous expression in bone marrow (RPKM 35.4), colon (RPKM 24.4) and 25 other tissues.
Summary
This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
U2AF1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001025203.1 | NP_001020374.1 | splicing factor U2AF 35 kDa subunit isoform b |
| NM_001025204.2 | NP_001020375.1 | splicing factor U2AF 35 kDa subunit isoform c |
| NM_006758.3 | NP_006749.1 | splicing factor U2AF 35 kDa subunit isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11551507 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of U2AF complex |
IDA
IDA: Inferred from direct assay
|
1824937 | GOA |
| part of U2AF complex |
IPI
IPI: Inferred from physical interaction
|
11551507 | GOA |
| part of catalytic step 2 spliceosome |
IDA
IDA: Inferred from direct assay
|
11991638 | GOA |
| part of spliceosomal complex |
IDA
IDA: Inferred from direct assay
|
9731529 | GOA |
| part of spliceosomal complex |
IPI
IPI: Inferred from physical interaction
|
11551507 | GOA |
U2AF1 Protein Structure
zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (15 - 38)
RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (91 - 145)
zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (150 - 174)
- 0
- 100
- 200
- 240 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
splicing factor U2AF 35 kDa subunit |
|
U2AF1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
U2AF1 | Q01081 | U2AF2 | Homo sapiens | P26368-2 | 28514442 | |
|
Intra
|
U2AF1 | Q01081 | U2AF2 | Homo sapiens | P26368-2 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | AP2B1 | Homo sapiens | P63010-2 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | AP2B1 | Homo sapiens | P63010-2 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | AP2B1 | Homo sapiens | P63010-2 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | CARNMT1 | Homo sapiens | Q8N4J0 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | CARNMT1 | Homo sapiens | Q8N4J0 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | CARNMT1 | Homo sapiens | Q8N4J0 | 33961781 | |
|
Intra
|
U2AF1 | Q01081 | CARNMT1 | Homo sapiens | Q8N4J0 | 28514442 | |
|
Intra
|
U2AF1 | Q01081 | CARNMT1 | Homo sapiens | Q8N4J0 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | AP1B1 | Homo sapiens | Q10567-3 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | AP1B1 | Homo sapiens | Q10567-3 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | AP1B1 | Homo sapiens | Q10567-3 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | SNRNP35 | Homo sapiens | Q16560-2 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | SNRNP35 | Homo sapiens | Q16560-2 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | SNRNP35 | Homo sapiens | Q16560-2 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | EFHC2 | Homo sapiens | Q5JST6 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | EFHC2 | Homo sapiens | Q5JST6 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | EFHC2 | Homo sapiens | Q5JST6 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | KRT75 | Homo sapiens | O95678 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | KRT75 | Homo sapiens | O95678 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | KRT1 | Homo sapiens | P04264 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | KRT1 | Homo sapiens | P04264 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | HNRNPK | Homo sapiens | P61978 | 29892012 | |
|
Intra
|
U2AF1 | Q01081 | HNRNPK | Homo sapiens | P61978 | 25416956 | |
|
Intra
|
U2AF1 | Q01081 | SARNP | Homo sapiens | P82979 | 18559666 | |
|
Intra
|
U2AF1 | Q01081 | SUV39H1 | Homo sapiens | O43463 | 23455924 | |
|
Intra
|
U2AF1 | Q01081 | SRSF3 | Homo sapiens | P84103 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | SRSF3 | Homo sapiens | P84103 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | SRSF3 | Homo sapiens | P84103 | 18559666 | |
|
Intra
|
U2AF1 | Q01081 | SRSF3 | Homo sapiens | P84103 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | SRRM4 | Homo sapiens | A7MD48 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | SRRM4 | Homo sapiens | A7MD48 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | SRSF1 | Homo sapiens | Q07955 | 18559666 | |
|
Intra
|
U2AF1 | Q01081 | SRSF1 | Homo sapiens | Q07955 | 18559666 | |
|
Intra
|
U2AF1 | Q01081 | SRSF1 | Homo sapiens | Q07955 | 21988832 | |
|
Intra
|
U2AF1 | Q01081 | SRPK1 | Homo sapiens | Q96SB4 | 33961781 | |
|
Intra
|
U2AF1 | Q01081 | SRPK1 | Homo sapiens | Q96SB4 | 22365833 | |
|
Intra
|
U2AF1 | Q01081 | SRPK1 | Homo sapiens | Q96SB4 | 28514442 | |
|
Intra
|
U2AF1 | Q01081 | SRPK2 | Homo sapiens | P78362 | 33961781 | |
|
Intra
|
U2AF1 | Q01081 | SRPK2 | Homo sapiens | P78362 | 25416956 | |
|
Intra
|
U2AF1 | Q01081 | SRPK2 | Homo sapiens | P78362 | 25416956 | |
|
Intra
|
U2AF1 | Q01081 | SRPK2 | Homo sapiens | P78362 | 23602568 | |
|
Intra
|
U2AF1 | Q01081 | SRSF2 | Homo sapiens | Q01130 | 22365833 | |
|
Intra
|
U2AF1 | Q01081 | CIR1 | Homo sapiens | Q86X95 | 15652350 | |
|
Intra
|
U2AF1 | Q01081 | NKAP | Homo sapiens | Q8N5F7 | 22365833 | |
|
Intra
|
U2AF1 | Q01081 | TRA2B | Homo sapiens | P62995 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | TRA2B | Homo sapiens | P62995 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | TRA2B | Homo sapiens | P62995 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | ZNF417 | Homo sapiens | Q8TAU3 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | U2AF2 | Homo sapiens | P26368 | 22365833 | |
|
Intra
|
U2AF1 | Q01081 | U2AF2 | Homo sapiens | P26368 | 21460037 | |
|
Intra
|
U2AF1 | Q01081 | U2AF2 | Homo sapiens | P26368 | 25416956 | |
|
Intra
|
U2AF1 | Q01081 | U2AF2 | Homo sapiens | P26368 | 16189514 | |
|
Intra
|
U2AF1 | Q01081 | U2AF2 | Homo sapiens | P26368 | 33961781 | |
|
Intra
|
U2AF1 | Q01081 | MLH1 | Homo sapiens | P40692 | 32296183 | |
|
Intra
|
U2AF1 | Q01081 | SF3B2 | Homo sapiens | Q13435 | 22365833 | |
|
Intra
|
U2AF1 | Q01081 | JMJD6 | Homo sapiens | Q6NYC1 | 23455924 | |
|
Intra
|
U2AF1 | Q01081 | JMJD6 | Homo sapiens | Q6NYC1 | 33961781 | |
|
Intra
|
U2AF1 | Q01081 | JMJD6 | Homo sapiens | Q6NYC1 | 23455924 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myelodysplastic Syndrome |
|
|
| Bone Marrow Cancer |
|
|
| Myelodysplastic/Myeloproliferative Neoplasm |
|
|
| Chronic Myelomonocytic Leukemia |
|
|
| Blood Coagulation Disease |
|
|
| Uterine Carcinosarcoma |
|
|
| Myelophthisic Anemia |
|
|
| Pancreatic Adenocarcinoma |
|
|
| Patau Syndrome |
|
|
| Sm-Ahnmd |
|
|
| Myeloid Leukemia |
|
|
| Chronic Leukemia |
|
|
| Core Binding Factor Acute Myeloid Leukemia |
|
|
| Unilateral Focal Polymicrogyria |
|
|
| Uveal Disease |
|
|
| Bladder Urothelial Carcinoma |
|
|
| Pancreatic Adenosquamous Carcinoma |
|
|
| Chromosomal Duplication Syndrome |
|
|
| Extracutaneous Mastocytoma |
|
|
| Leukocyte Disease |
|
|
| Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative |
|
|
| Acquired Von Willebrand Syndrome |
|
|
| Cervical Endometrioid Adenocarcinoma |
|
|
| Immunodeficiency 21 |
|
|
| Indolent Plasma Cell Myeloma |
|
|
| Hairy Cell Leukemia |
|
|
| Acute Erythroid Leukemia |
|
|
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
|
| Chronic Eosinophilic Leukemia |
|
|
| Wolffian Duct Adenocarcinoma |
|
|
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
|
| Chronic Neutrophilic Leukemia |
|
|
| Tarp Syndrome |
|
|
| Trichothiodystrophy 2, Photosensitive |
|
|
| Spleen Cancer |
|
|
| Acute Basophilic Leukemia |
|
|
| Type 1 Diabetes Mellitus 20 |
|
|
| Myelofibrosis |
|
|
| Splenic Disease |
|
|
| Lymphatic System Disease |
|
|
| Lymphatic System Cancer |
|
|
| Uterine Body Mixed Cancer |
|
|
| Splenic Infarction |
|
|
| Endocervical Carcinoma |
|
|
| Splenic Sequestration |
|
|
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
|
| Wernicke Encephalopathy |
|
|
| Chromosomal Disease |
|
|
| Childhood Leukemia |
|
|
| Vexas Syndrome |
|
|
| Uterine Corpus Cancer |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Myeloproliferative Syndrome, Transient |
|
|
| Splenic Marginal Zone Lymphoma |
|
|
| Neutrophilic Dermatosis, Acute Febrile |
|
|
| Histiocytosis |
|
|
| Leukemia |
|
|
| Immunodeficiency 51 |
|
|
| Pelger-Huet Anomaly |
|
|
| Leukemia, Acute Myeloid |
|
|
| Ocular Cancer |
|
|
| Dendritic Cell Deficiency |
|
|
| Sensory System Disease |
|
|
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
|
| Cervical Cancer |
|
|
| Congenital Disorder Of Glycosylation, Type Ig |
|
|
| Squamous Cell Carcinoma, Head And Neck |
|
|
| Burn-Mckeown Syndrome |
|
|
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
|
| Refractory Anemia With Excess Blasts |
|
|
| Shwachman-Diamond Syndrome 1 |
|
|
| Hematologic Cancer |
|
|
| Hepatic Vascular Disease |
|
|
| Hematuria, Benign Familial |
|
|
| Muscle Tissue Disease |
|
|
| Refractory Cytopenia With Multilineage Dysplasia |
|
|
| Lung Cancer |
|
|
| Physical Disorder |
|
|
| Neutrophilia, Hereditary |
|
|
| Mastocytosis, Cutaneous |
|
|
| Aggressive Systemic Mastocytosis |
|
|
| Childhood Acute Myeloid Leukemia |
|
|
| Acute Biphenotypic Leukemia |
|
|
| Immune System Disease |
|
|
| Blood Platelet Disease |
|
|
| Adenocarcinoma In Situ |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
|
| Muscular Disease |
|
|
| Evans' Syndrome |
|
|
| Systemic Mastocytosis |
|
|
| Myeloproliferative Neoplasm |
|
|
| Cataract 14, Multiple Types |
|
|
| Mast-Cell Leukemia |
|
|
| Essential Thrombocythemia |
|
|
| Myeloid Sarcoma |
|
|
| Mast-Cell Sarcoma |
|
|
| Indolent Systemic Mastocytosis |
|
|
| Felty Syndrome |
|
|
| Melanoma, Uveal |
|
|
| Erythromelalgia |
|
|
| Tyrosinemia, Type I |
|
|
| Non-Langerhans-Cell Histiocytosis |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Thrombocytosis |
|
|
| Mast Cell Neoplasm |
|
|
| Monoclonal Gammopathy Of Uncertain Significance |
|
|
| Ovarian Mucinous Neoplasm |
|
|
| Transcobalamin Ii Deficiency |
|
|
| Macrocytic Anemia |
|
|
| Paroxysmal Nocturnal Hemoglobinuria |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
|
| Eye Degenerative Disease |
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Deficiency Anemia |
|
|
| Sideroblastic Anemia |
|
|
| Thrombocytopenia |
|
|
| Integumentary System Disease |
|
|
| Polycythemia Vera |
|
|
| Withdrawal Disorder |
|
|
| Hemosiderosis |
|
|
| Shigellosis |
|
|
| Rasopathy |
|
|
| Malignant Exocrine Pancreas Neoplasm |
|
|
| Acrofacial Dysostosis 1, Nager Type |
|
|
| Infratentorial Cancer |
|
|
| Endocervical Adenocarcinoma |
|
|
| Mucosal Melanoma |
|
|
| Leukemia, Acute Monocytic |
|
|
| Blood Protein Disease |
|
|
| Respiratory System Disease |
|
|
| Lethal Congenital Contracture Syndrome 1 |
|
|
| Hypersplenism |
|
|
| Respiratory System Cancer |
|
|
| Pancytopenia |
|
|
| Wilms Tumor 1 |
|
|
| Hereditary Sensory Neuropathy |
|
|
| Thrombocytopenia Due To Platelet Alloimmunization |
|
|
| Estrogen-Receptor Positive Breast Cancer |
|
|
| Pure Red-Cell Aplasia |
|
|
| Isolated Growth Hormone Deficiency, Type Ia |
|
|
| Isolated Growth Hormone Deficiency |
|
|
| Severe Congenital Neutropenia |
|
|
| T-Cell Large Granular Lymphocyte Leukemia |
|
|
| Acrofacial Dysostosis |
|
|
| Ovarian Cystadenocarcinoma |
|
|
| Dyskeratosis Congenita |
|
|
| Aplastic Anemia |
|
|
| Cerebellar Disease |
|
|
| Hormone Producing Pituitary Cancer |
|
|
| Mantle Cell Lymphoma |
|
|
| Hepatic Veno-Occlusive Disease |
|
|
| Budd-Chiari Syndrome |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Cytomegalovirus Retinitis |
|
|
| Central Nervous System Cancer |
|
|
| Thoracic Cancer |
|
|
| B-Lymphoblastic Leukemia/Lymphoma |
|
|
| Diamond-Blackfan Anemia |
|
|
| Specific Developmental Disorder |
|
|
| Primary Thrombocytopenia |
|
|
| Mature B-Cell Neoplasm |
|
|
| Li-Fraumeni Syndrome |
|
|
| Hereditary Ataxia |
|
|
| Raynaud Disease |
|
|
| Retinal Disease |
|
|
| Mucinous Adenocarcinoma |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
| Langerhans Cell Histiocytosis |
|
|
| Suppression Of Tumorigenicity 12 |
|
|
| Marginal Zone B-Cell Lymphoma |
|
|
| Connective Tissue Cancer |
|
|
| Endocrine System Disease |
|
|
| Brain Glioma |
|
|
| Malignant Astrocytoma |
|
|
| Retinitis Pigmentosa |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Urinary System Disease |
|
|
| Colorectal Cancer |
|
|
| Ovary Adenocarcinoma |
|
|
| Spinal Disease |
|
|
| Peripheral Nervous System Disease |
|
|
| Eye Disease |
|
|
| Central Nervous System Disease |
|
|
| Ovarian Serous Cystadenocarcinoma |
|
|
| Skin Melanoma |
|
|
| Pancreas Disease |
|
|
| Hemophagocytic Lymphohistiocytosis |
|
|
| Breast Disease |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Autonomic Nervous System Neoplasm |
|
|
| Autoimmune Disease Of Blood |
|
|
| Acute Megakaryocytic Leukemia |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Uterine Anomalies |
|
|
| Reproductive System Disease |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Peripheral Nervous System Neoplasm |
|
|
| Female Reproductive System Disease |
|
|
| Chromophobe Renal Cell Carcinoma |
|
|
| Lung Squamous Cell Carcinoma |
|
|
| Nervous System Disease |
|
|
| Gastrointestinal System Disease |
|
|
| Disease Of Mental Health |
|
|
| Bladder Disease |
|
|
| Intestinal Disease |
|
|
| Male Reproductive System Disease |
|
|
| Male Reproductive Organ Cancer |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Pancreatic Ductal Adenocarcinoma |
|
|
| Malignant Ovarian Surface Epithelial-Stromal Neoplasm |
|
|
| Colonic Disease |
|
|
| Hemolytic Anemia |
|
|
| Head And Neck Cancer |
|
|
| Autoimmune Lymphoproliferative Syndrome |
|
|
| Brain Cancer |
|
|
| Spinal Muscular Atrophy |
|
|
| Diffuse Large B-Cell Lymphoma |
|
|
| Rectum Adenocarcinoma |
|
|
| Noonan Syndrome 1 |
|
|
| Connective Tissue Disease |
|
|
| Cervix Carcinoma |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Skin Disease |
|
|
| Motor Neuron Disease |
|
|
| Plasma Cell Neoplasm |
|
|
| Osteochondrodysplasia |
|
|
| Breast Adenocarcinoma |
|
|
| Lynch Syndrome |
|
|
| T-Cell Acute Lymphoblastic Leukemia |
|
|
| Myeloma, Multiple |
|
|
| Frontotemporal Dementia |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Myopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | U2AF1 | RGD | RGD:1584190 |
| Mus musculus | U2AF1 | MGD | MGI:98884 |