NTRK1 Gene Summary [Human]
This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | NTRK1 |
| Official Name | neurotrophic receptor tyrosine kinase 1 [Source:HGNC Symbol;Acc:HGNC:8031] |
| Ensembl ID | ENSG00000198400 |
| Bio databases IDs | |
| Aliases | neurotrophic receptor tyrosine kinase 1, high affinity nerve growth factor receptor |
| Synonyms | C80751, MTC, neurotrophic receptor tyrosine kinase 1, neurotrophic tyrosine kinase, receptor, type 1, p140 Trk, p140-TrkA, Tkr, TRK, TRK1, TRKA, TRKA longest isoform, TRKA NGFR |
| 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 NTRK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Leucine rich repeat
- protein-tyrosine kinase
- identical protein binding
- activation loop
- IgG-C2 domain
- neurotrophin p75 receptor binding
- GPI-linked ephrin receptor
- NPXY motif
- cytoplasmic domain
- NGF binding domain
- Immunoglobulin like
- immunoglobulin-like protein domain
- cysteine rich domain
- growth factor binding
- transmembrane receptor
- extracellular domain
- Protein tyrosine and serine/threonine kinase
- ectodomain
- Immunoglobulin I-set domain
- protein binding
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- PLC gamma1 protein binding domain
- transmembrane domain
- immunoglobulin G-like domain
- tyrosine kinase domain
- protein homodimerization
- substrate binding domain
- PI3K binding domain
- Leucine rich repeat C-terminal motif
- ATP-binding domain
- neurotrophin p75 receptor
- Protein kinase domain
- transmembrane receptor protein serine/threonine kinase
- SNT binding domain
- ligand-binding domain
- extracellular ligand binding domain
- intracellular domain
- membrane-proximal domain
- Tyrosine kinase, catalytic domain
- Protein kinase (unclassified specificity)
- leucine rich domain
- immunoglobulin domain
- Leucine rich repeat C-terminal domain
- PLC gamma binding domain
- Shc binding site
- kinase binding
- Protein Kinases, catalytic domain
- transmembrane receptor protein tyrosine kinase
Pathways
Biological processes and signaling networks where the NTRK1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- head and neck neoplasia
- melanoma cancer
- cancer
- metastasis
- non-small cell lung cancer
- metastatic non-small cell lung cancer
- metastatic gastrointestinal stromal tumor
- cutaneous melanoma
- epithelial cancer
role in cell
- expression in
- growth
- production in
- proliferation
- cell death
- molecular cleavage in
- phosphorylation in
- cell viability
- survival
- activation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- intracellular compartment
- Cytoplasm
- cell surface
- cell borders
- cell periphery
- intracellular space
- perinuclear region
- intracellular membranes
- membrane surface
- cellular membrane
- vesicles
- centrosome
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- cytoplasmic aggregates
- ER-to-Golgi intermediate compartment
- endoplasmic reticulum membrane
- membrane ruffles
- caveolar membranes
- caveolae
- Golgi membrane
- endosomal membrane
- perinuclear space
- neurites
- nerve ending
- recycling endosomes
- early endosomes
- late endosomes
- membrane rafts
- perikaryon
- axons
- dendrites
- Merkel nerve endings
- clathrin-coated vesicles
- melanin granules
- sensory axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NTRK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- axonogenesis involved in innervation
- peptidyl-tyrosine phosphorylation
- multicellular organismal development
- negative regulation of cell proliferation
- positive regulation of programmed cell death
- Sertoli cell development
- positive regulation of Ras protein signal transduction
- axon guidance
- protein autophosphorylation
- response to axon injury
- response to xenobiotic stimulus
- protein phosphorylation
- positive regulation of NF-kappaB transcription factor activity
- positive regulation of GTPase activity
- olfactory nerve development
- learning or memory
- negative regulation of neuron apoptotic process
- sympathetic nervous system development
- positive regulation of kinase activity
- positive regulation of neuron projection development
- positive regulation of synaptic transmission, glutamatergic
- positive regulation of synapse assembly
- response to electrical stimulus
- cellular response to nicotine
- neuron apoptotic process
- B cell differentiation
- transmembrane receptor protein tyrosine kinase signaling pathway
- peptidyl-tyrosine autophosphorylation
- behavioral response to formalin induced pain
- circadian rhythm
- nerve growth factor receptor signaling pathway
- response to hydrostatic pressure
- mechanoreceptor differentiation
- negative regulation of apoptotic process
- ephrin receptor signaling pathway
- positive regulation of protein phosphorylation
- positive regulation of ERK1 and ERK2 cascade
- detection of mechanical stimulus involved in sensory perception of pain
- developmental programmed cell death
- detection of temperature stimulus involved in sensory perception of pain
- response to nutrient levels
- positive regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- late endosome
- receptor complex
- neuronal cell body
- plasma membrane
- cell surface
- early endosome membrane
- late endosome membrane
- dendrite
- early endosome
- macromolecular complex
- endosome membrane
- recycling endosome membrane
- axon
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein homodimerization activity
- neurotrophin receptor activity
- neurotrophin p75 receptor binding
- GPI-linked ephrin receptor activity
- nerve growth factor binding
- ATP binding
- protein tyrosine kinase activity
- protein binding
- transmembrane receptor protein tyrosine kinase activity
- neurotrophin binding
- kinase binding
- nerve growth factor receptor activity