NTRK1

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]

Description

Neurotrophic receptor tyrosine kinase 1

Tissue specificity

Group enriched (adrenal gland, brain)

Subcell location

Vesicles, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Cancer-related genes
Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
RAS pathway related proteins

Chromosome

1 (156815640 - 156881850)

Ensembl ID

ENSG00000198400  (ver. 103.38)

Orthologs

Mouse Ntrk1: ENSMUSG00000028072

UniProt

P04629

neXtProt

NX_P04629

Human splice variants
Mouse splice variants

Protein structure