BTK Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | BTK |
| Official Name | Bruton tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:1133] |
| Ensembl ID | ENSG00000010671 |
| Bio databases IDs | |
| Aliases | Bruton tyrosine kinase, Bruton's tyrosine kinase |
| Synonyms | AGMX1, AT, ATK, BPK, Bruton agammaglobulinaemia tyrosine kinase, Bruton agammaglobulinemia tyrosine kinase, Bruton's tyrosine kinase, Brutons tyrosine kinase, Bruton tyrosine kinase, IGHD3, IMD1, p77btk, PSCTK1, xid, XLA |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BTK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SH3 domain
- ATP-binding domain
- phosphoinositide binding domain
- ATP binding
- protein-tyrosine kinase
- Protein kinase domain
- phospholipase activator
- identical protein binding
- proline rich domain
- Sh3 domain binding motif
- phosphatidylinositol-3,4,5-triphosphate binding
- PH domain
- Src homology 2 (SH2) domain
- Tyrosine kinase, catalytic domain
- Protein kinase (unclassified specificity)
- Tec homology domain
- catalytic domain
- Protein tyrosine and serine/threonine kinase
- serine/threonine-proline phosphorylation motif
- enzyme binding
- non-membrane spanning protein tyrosine kinase
- autophosphorylation site
- protein binding
- Pleckstrin homology-like domain
- phosphorylation site
- Src Homology 3 domain superfamily
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- Protein Kinases, catalytic domain
- BTK motif
- active site
Pathways
Biological processes and signaling networks where the BTK gene in human plays a role, providing insight into its function and relevance in health or disease.
- B Cell Receptor Signaling
- Fc Epsilon RI Signaling
- FcγRIIB Signaling in B Lymphocytes
- G Beta Gamma Signaling
- GP6 Signaling Pathway
- Gα12/13 Signaling
- Gαq Signaling
- IL-15 Production
- Leukocyte Extravasation Signaling
- p70S6K Signaling
- PI3K Signaling in B Lymphocytes
- Primary Immunodeficiency Signaling
- Role of NFAT in Regulation of the Immune Response
- Sperm Motility
- Tec Kinase Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- extranodal marginal zone cell lymphoma
- splenic marginal zone B-cell lymphoma
- nodal marginal zone lymphoma
- neoplasia
- cancer
- infection
- primary progressive multiple sclerosis
- membranous glomerulonephritis
- chronic idiopathic urticaria
- relapsing multiple sclerosis
role in cell
- cell death
- activation
- quantity
- migration
- activity
- apoptosis
- adhesion
- activation in
- binding in
- proliferation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- nuclear fraction
- perinuclear region
- cellular membrane
- Nucleus
- Plasma Membrane
- centrosome
- cytosol
- membrane ruffles
- cytoplasmic vesicles
- membrane rafts
- cell membrane leading edge
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BTK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- peptidyl-tyrosine phosphorylation
- negative regulation of interleukin-10 production
- Fc-epsilon receptor signaling pathway
- mesoderm development
- apoptotic signaling pathway
- B cell activation
- protein phosphorylation
- positive regulation of NF-kappaB transcription factor activity
- B cell affinity maturation
- negative regulation of B cell proliferation
- MyD88-dependent toll-like receptor signaling pathway
- positive regulation of immunoglobulin production
- positive regulation of tumor necrosis factor production
- positive regulation of type III hypersensitivity
- proteoglycan catabolic process
- calcium-mediated signaling
- T cell receptor signaling pathway
- intracellular signal transduction
- B cell receptor signaling pathway
- adaptive immune response
- cell maturation
- neutrophil homeostasis
- positive regulation of NLRP3 inflammasome complex assembly
- positive regulation of B cell differentiation
- histamine secretion by mast cell
- regulation of B cell cytokine production
- positive regulation of type I hypersensitivity
- innate immune response
- regulation of B cell apoptotic process
- cellular response to molecule of fungal origin
- positive regulation of B cell proliferation
- response to lipopolysaccharide
- positive regulation of phagocytosis
- positive regulation of interleukin-6 production
- cellular response to reactive oxygen species
Cellular Component
Where in the cell the gene product is active
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- membrane raft
- cytoplasmic vesicle
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-3,4,5-trisphosphate binding
- ATP binding
- protein tyrosine kinase activity
- identical protein binding
- protein binding
- non-membrane spanning protein tyrosine kinase activity
- metal ion binding
- phospholipase binding
- phospholipase activator activity