neurotrophic receptor tyrosine kinase 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFamilial dysautonomia
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalPain syndromes
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalMultiple endocrine tumours
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+1 more panels — install the extension to see the full list inline on any page.
hereditary sensory and autonomic neuropathy type 4
non-small cell lung carcinoma
neoplasm
cancer
colorectal cancer
familial medullary thyroid carcinoma
hereditary disease
neurodegenerative disease
keratitis
colorectal adenocarcinoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
High affinity nerve growth factor receptor
Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor for NGF which is its primary ligand (PubMed:1281417, PubMed:15488758, PubMed:17196528, PubMed:1849459, PubMed:1850821, PubMed:22649032, PubMed:27445338, PubMed:8325889). Can also bind and be activated by NTF3/neurotrophin-3. However, NTF3 only supports axonal extension through NTRK1 but has no effect on neuron survival (By similarity). Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation (PubMed:1281417). Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades driving cell survival and differentiation. Through SHC1 and FRS2 activates a GRB2-Ras-MAPK cascade that regulates cell differentiation and survival. Through PLCG1 controls NF-Kappa-B activation and the transcription of genes involved in cell survival. Through SHC1 and SH2B1 controls a Ras-PI3 kinase-AKT1 signaling cascade that is also regulating survival. In absence of ligand and activation, may promote cell death, making the survival of neurons dependent on trophic factors
Curated MONDO disease pages that list NTRK1 among their top associated genes.
NTRK1 · P04629
Mean pLDDT
78.3/ 100
Confident
796 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
