BTK - Bruton tyrosine kinase Gene
Also Known as AT; ATK; BPK; XLA; IMD1; AGMX1; IGHD3; PSCTK1
Species: Homo sapiens
About BTK
This gene has 31 transcripts (splice variants), 206 orthologues, 32 paralogues and is associated with 78 phenotypes. Biased expression in lymph node (RPKM 25.2), spleen (RPKM 18.4) and 13 other tissues.
Summary
The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
BTK Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000061.3 | NP_000052.1 | tyrosine-protein kinase BTK isoform 1 |
| NM_001287345.2 | NP_001274274.1 | tyrosine-protein kinase BTK isoform 2 |
| NM_001287344.2 | NP_001274273.1 | tyrosine-protein kinase BTK isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
11577348 | GOA |
| enables non-membrane spanning protein tyrosine kinase activity |
IDA
IDA: Inferred from direct assay
|
11606584 | GOA |
| enables non-membrane spanning protein tyrosine kinase activity |
IGI
IGI: Inferred from genetic interaction
|
14656219 | GOA |
| enables phosphatidylinositol-3,4,5-trisphosphate binding |
IDA
IDA: Inferred from direct assay
|
17823121 | GOA |
| enables phospholipase activator activity |
IDA
IDA: Inferred from direct assay
|
11606584 | GOA |
| enables phospholipase binding |
IPI
IPI: Inferred from physical interaction
|
11606584 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
8892607 | GOA |
| enables protein tyrosine kinase activity |
EXP
EXP: Inferred from Experiment
|
7518558 | GOA |
| enables protein tyrosine kinase activity |
IDA
IDA: Inferred from direct assay
|
34554188 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in B cell receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
15509800 | GOA |
| involved in intracellular signal transduction |
IDA
IDA: Inferred from direct assay
|
11606584 | GOA |
| involved in intracellular signal transduction |
IGI
IGI: Inferred from genetic interaction
|
14656219 | GOA |
| involved in peptidyl-tyrosine phosphorylation |
IDA
IDA: Inferred from direct assay
|
11606584 | GOA |
| involved in peptidyl-tyrosine phosphorylation |
IGI
IGI: Inferred from genetic interaction
|
14656219 | GOA |
| involved in positive regulation of NLRP3 inflammasome complex assembly |
IDA
IDA: Inferred from direct assay
|
34554188 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
17823121 | GOA |
| located in membrane raft |
IDA
IDA: Inferred from direct assay
|
15046600 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
17823121 | GOA |
BTK Protein Structure
PH: PH domain (5 - 132)
BTK: BTK motif (140 - 169)
SH3_1: SH3 domain (220 - 266)
SH2: SH2 domain (281 - 362)
Pkinase_Tyr: Protein tyrosine kinase (402 - 650)
- 0
- 200
- 400
- 600
- 659 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tyrosine-protein kinase BTK |
|
|
BTK Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
BTK | Q06187 | BLNK | Homo sapiens | Q8WV28 | 16969585 | |
|
Intra
|
BTK | Q06187 | WAS | Homo sapiens | P42768 | 8892607 | |
|
Intra
|
BTK | Q06187 | HSP90AB1 | Homo sapiens | P08238 | 33961781 | |
|
Intra
|
BTK | Q06187 | GTF2I | Homo sapiens | P78347 | 9012831 | |
|
Intra
|
BTK | Q06187 | GTF2I | Homo sapiens | P78347 | 9012831 | |
|
Intra
|
BTK | Q06187 | GTF2I | Homo sapiens | P78347 | 19214191 | |
|
Intra
|
BTK | Q06187 | GTF2I | Homo sapiens | P78347 | 9012831 | |
|
Intra
|
BTK | Q06187 | GTF2I | Homo sapiens | P78347 | 9012831 | |
|
Intra
|
BTK | Q06187 | PRKCQ | Homo sapiens | Q04759 | 11788586 | |
|
Intra
|
BTK | Q06187 | PRKCQ | Homo sapiens | Q04759 | 11788586 | |
|
Intra
|
BTK | Q06187 | MAL | Homo sapiens | P21145 | 22366891 | |
|
Intra
|
BTK | Q06187 | MAL | Homo sapiens | P21145 | 22366891 | |
|
Intra
|
BTK | Q06187 | MAL | Homo sapiens | P21145 | 22366891 | |
|
Intra
|
BTK | Q06187 | ARID3A | Homo sapiens | Q99856 | 19214191 | |
|
Intra
|
BTK | Q06187 | BTK | Homo sapiens | Q06187 | 11231015 | |
|
Intra
|
BTK | Q06187 | ANKRD54 | Homo sapiens | Q6NXT1 | 32707033 | |
|
Intra
|
BTK | Q06187 | ebi-1521221 | Homo sapiens | EBI-1521221 | 11577348 | |
|
Intra
|
BTK | Q06187 | ANKRD54 | Homo sapiens | Q6NXT1 | 33961781 | |
|
Intra
|
BTK | Q06187 | ANKRD54 | Homo sapiens | Q6NXT1 | 28514442 | |
|
Intra
|
BTK | Q06187 | BTK | Homo sapiens | Q06187 | 11577348 | |
|
Intra
|
BTK | Q06187 | SH3BP5 | Homo sapiens | O60239 | 9571151 | |
|
Intra
|
BTK | Q06187 | SH3BP5 | Homo sapiens | O60239 | 9571151 | |
|
Intra
|
BTK | Q06187 | MEOX2 | Homo sapiens | P50222 | 25910212 | |
|
Intra
|
BTK | Q06187 | MEOX2 | Homo sapiens | P50222 | 25910212 | |
|
Intra
|
BTK | Q06187 | MEOX2 | Homo sapiens | P50222 | 25910212 |
BTK Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80454 | Phospho-BTK(Y223) Antibody (YA221) | WB, IP | Human |
| HY-P80576 | BTK Antibody (YA816) | WB, IP | Human |
| HY-P80576A | BTK Antibody (YA816)(PBS only) | WB, IP | Human |
| HY-P84493 | BTK Antibody (YA4190) | WB, IHC-P, ICC/IF, ELISA | Human, Monkey |
| HY-P84493A | BTK Antibody (YA4190)(PBS only) | WB, IHC-P, ICC/IF, ELISA | Human, Monkey |
| HY-P86215 | BTK Antibody (YA5907) | WB, IHC-P, ICC/IF, IP, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Marginal Zone B-Cell Lymphoma |
|
|
| Waldenstroem'S Macroglobulinemia |
|
|
| Cd40 Ligand Deficiency |
|
|
| X-Linked Recessive Disease |
|
|
| Transient Hypogammaglobulinemia Of Infancy |
|
|
| Immunodeficiency 7 |
|
|
| Isolated Growth Hormone Deficiency Type Iii |
|
|
| Williams-Beuren Syndrome |
|
|
| Selective Immunoglobulin Deficiency Disease |
|
|
| X-Linked Monogenic Disease |
|
|
| Agammaglobulinemia 1, Autosomal Recessive |
|
|
| Congenital Hypogammaglobulinemia |
|
|
| Bn2 Diffuse Large B-Cell Lymphoma |
|
|
| Agammaglobulinemia |
|
|
| Systemic Lupus Erythematosus |
|
|
| Immunodeficiency 45 |
|
|
| Macroglobulinemia |
|
|
| Omenn Syndrome |
|
|
| Pneumocystosis |
|
|
| Lymphopenia |
|
|
| Diffuse Large B-Cell Lymphoma |
|
|
| B Cell Deficiency |
|
|
| Central Nervous System Hematologic Cancer |
|
|
| Common Variable Immunodeficiency |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Tibial Nerve Palsy |
|
|
| Immunodeficiency With Hyper-Igm, Type 1 |
|
|
| Testicular Lymphoma |
|
|
| Wiskott-Aldrich Syndrome |
|
|
| Refractory Plasma Cell Neoplasm |
|
|
| Lambda 5 Deficiency |
|
|
| Asthma |
|
|
| Leukemia, Acute Myeloid |
|
|
| Transient Hypogammaglobulinemia |
|
|
| Immunodeficiency 46 |
|
|
| Hairy Cell Leukemia |
|
|
| Immune Deficiency Disease |
|
|
| Plasma Protein Metabolism Disease |
|
|
| Anemia, Autoimmune Hemolytic |
|
|
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
|
| Breast Cancer |
|
|
| Combined Immunodeficiency |
|
|
| Bacterial Infectious Disease |
|
|
| Ecthyma |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
| Aneurysm, Intracranial Berry, 12 |
|
|
| N1 Diffuse Large B-Cell Lymphoma |
|
|
| Paralytic Poliomyelitis |
|
|
| Mantle Cell Lymphoma |
|
|
| Mcd Diffuse Large B-Cell Lymphoma |
|
|
| Mohr-Tranebjaerg Syndrome |
|
|
| Panniculitis |
|
|
| Agammaglobulinemia, X-Linked |
|
|
| Mast-Cell Leukemia |
|
|
| Chronic Granulomatous Disease |
|
|
| Lymphoplasmacytic Lymphoma |
|
|
| Diffuse Large B-Cell Lymphoma Activated B-Cell Type |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Central Nervous System Lymphoma |
|
|
| Dystonia |
|
|
| Richter'S Syndrome |
|
|
| Poliomyelitis |
|
|
| Conjunctivitis |
|
|
| Pyoderma |
|
|
| Immunoglobulin A Deficiency 1 |
|
|
| Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma |
|
|
| Lymphoma, Mucosa-Associated Lymphoid Type |
|
|
| Blood Platelet Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | BTK | VGNC | VGNC:38560 |
| Macaca mulatta | BTK | VGNC | VGNC:82111 |
| Felis catus | BTK | VGNC | VGNC:82460 |
| Rattus norvegicus | BTK | RGD | RGD:1359683 |
| Mus musculus | BTK | MGD | MGI:88216 |
| Bos taurus | BTK | VGNC | VGNC:26601 |
| Others | BTK | NCBI |