Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4914
Gene name Gene Name - the full gene name approved by the HGNC.
Neurotrophic receptor tyrosine kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NTRK1
Synonyms (NCBI Gene) Gene synonyms aliases
MTC, TRK, TRK1, TRKA, Trk-A, p140-TrkA
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 ce
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs6336 C>T Benign, benign-likely-benign, pathogenic Coding sequence variant, missense variant
rs6339 G>T Benign, benign-likely-benign, pathogenic Coding sequence variant, missense variant
rs35669708 G>A,C Benign-likely-benign, benign, pathogenic, likely-benign Coding sequence variant, missense variant
rs80356674 T>A Pathogenic Intron variant
rs80356675 C>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT2056950 hsa-miR-873 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
ING4 Repression 22078444
MYCN Repression 21123453
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IDA 2927393
GO:0004713 Function Protein tyrosine kinase activity IEA
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191315 8031 ENSG00000198400
Protein
UniProt ID P04629
Protein name High affinity nerve growth factor receptor (EC 2.7.10.1) (Neurotrophic tyrosine kinase receptor type 1) (TRK1-transforming tyrosine kinase protein) (Tropomyosin-related kinase A) (Tyrosine kinase receptor) (Tyrosine kinase receptor A) (Trk-A) (gp140trk) (
Protein function 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 fo
PDB 1HE7 , 1SHC , 1WWA , 1WWW , 2IFG , 2N90 , 4AOJ , 4CRP , 4F0I , 4GT5 , 4PMM , 4PMP , 4PMS , 4PMT , 4YNE , 4YPS , 5H3Q , 5I8A , 5JFS , 5JFV , 5JFW , 5JFX , 5KMI , 5KMJ , 5KMK , 5KML , 5KMM , 5KMN , 5KMO , 5KVT , 5WR7 , 6D1Y , 6D1Z , 6D20 , 6D22 , 6DKB , 6DKG , 6DKI , 6DKW , 6IQN , 6J5L , 6NPT , 6NSP , 6NSS , 6PL1 , 6PL2 , 6PL3 , 6PL4 , 6PMA , 6PMB , 6PMC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16920 TPKR_C2 151 192 Tyrosine-protein kinase receptor C2 Ig-like domain Domain
PF18613 TrkA_TMD 417 438 Tyrosine kinase receptor A trans-membrane domain Domain
PF07714 PK_Tyr_Ser-Thr 510 781 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Isoform TrkA-I is found in most non-neuronal tissues. Isoform TrkA-II is primarily expressed in neuronal cells. TrkA-III is specifically expressed by pluripotent neural stem and neural crest progenitors. {ECO:0000269|PubMed:15488758, E
Sequence
MLRGGRRGQLGWHSWAAGPGSLLAWLILASAGAAPCPDACCPHGSSGLRCTRDGALDSLH
HLPGAENLTELYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRL
NLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQRWEEEGLGGVPEQKLQCHGQ
GPLAHMPNASCG
VPTLKVQVPNASVDVGDDVLLRCQVEGRGLEQAGWILTELEQSATVMK
SGGLPSLGLTLANVTSDLNRKNVTCWAENDVGRAEVSVQVNVSFPASVQLHTAVEMHHWC
IPFSVDGQPAPSLRWLFNGSVLNETSFIFTEFLEPAANETVRHGCLRLNQPTHVNNGNYT
LLAANPFGQASASIMAAFMDNPFEFNPEDPIPVSFSPVDTNSTSGDPVEKKDETPFGVSV
AVGLAVFACLFLSTLLLV
LNKCGRRNKFGINRPAVLAPEDGLAMSLHFMTLGGSSLSPTE
GKGSGLQGHIIENPQYFSDACVHHIKRRDIVLKWELGEGAFGKVFLAECHNLLPEQDKML
VAVKALKEASESARQDFQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRF
LRSHGPDAKLLAGGEDVAPGPLGLGQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQ
GLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEI
FTYGKQPWYQLSNTEAIDCITQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHAR
L
QALAQAPPVYLDVLG
Sequence length 796
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Ras signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Neurotrophin signaling pathway
Inflammatory mediator regulation of TRP channels
Pathways in cancer
Transcriptional misregulation in cancer
Thyroid cancer
Central carbon metabolism in cancer
  Frs2-mediated activation
ARMS-mediated activation
Retrograde neurotrophin signalling
TRKA activation by NGF
PI3K/AKT activation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease rs748672380, rs747711259, rs1571695851, rs1232901259, rs764992664, rs756981419, rs764816792, rs763758904, rs1571685736, rs1485714154 N/A
hereditary insensitivity to pain with anhidrosis Hereditary insensitivity to pain with anhidrosis rs1647277529, rs747711259, rs1485714154, rs80356674, rs369353892, rs748672380, rs398122810, rs1648159596, rs764171953, rs1571695851, rs606231466, rs780724170, rs370483210, rs914061514, rs1232901259
View all (30 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
hereditary cancer Hereditary cancer N/A N/A ClinVar
hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy N/A N/A ClinVar
Hereditary Sensory And Autonomic Neuropathy hereditary sensory and autonomic neuropathy type 4 N/A N/A GenCC
Hypothyroidism Hypothyroidism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 36499693
Acute cholinergic dysautonomia Inhibit 33536237
Acute erythroleukemia Associate 19059881
Adenocarcinoma Associate 33768710
Adenocarcinoma of Lung Associate 27151654, 30115026, 33768710, 33865348, 34362997
Adenoma Pleomorphic Associate 33727696
Adrenal Gland Diseases Associate 38241559
Alzheimer Disease Inhibit 10693951, 16539663, 20561151, 21397006
Alzheimer Disease Associate 23095849
Amyotrophic Lateral Sclerosis Associate 31575382