ENSG00000198400


Homo sapiens

Features
Gene ID: ENSG00000198400
  
Biological name :NTRK1
  
Synonyms : neurotrophic receptor tyrosine kinase 1 / NTRK1 / P04629
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q23.1
Gene start: 156815640
Gene end: 156881850
  
Corresponding Affymetrix probe sets: 208605_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431418
Ensembl peptide - ENSP00000351486
Ensembl peptide - ENSP00000436804
Ensembl peptide - ENSP00000357179
Ensembl peptide - ENSP00000376120
NCBI entrez gene - 4914     See in Manteia.
OMIM - 191315
RefSeq - NM_001007792
RefSeq - NM_002529
RefSeq - NM_001012331
RefSeq Peptide - NP_001007793
RefSeq Peptide - NP_002520
RefSeq Peptide - NP_001012331
swissprot - X5DR71
swissprot - E9PQG0
swissprot - J3KP20
swissprot - P04629
Ensembl - ENSG00000198400
  
Related genetic diseases (OMIM): 155240 - Medullary thyroid carcinoma, familial, 155240
  256800 - Insensitivity to pain, congenital, with anhidrosis, 256800
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ntrk1ENSDARG00000004586Danio rerio
 NTRK1ENSGALG00000019019Gallus gallus
 Ntrk1ENSMUSG00000028072Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NTRK3 / Q16288 / neurotrophic receptor tyrosine kinase 3ENSG0000014053851
NTRK2 / Q16620 / neurotrophic receptor tyrosine kinase 2ENSG0000014805350
MUSK / O15146 / muscle associated receptor tyrosine kinaseENSG0000003030427
IGF1R / P08069 / insulin like growth factor 1 receptorENSG0000014044326
INSR / P06213 / insulin receptorENSG0000017110526
DDR2 / Q16832 / discoidin domain receptor tyrosine kinase 2ENSG0000016273325
DDR1 / Q08345 / discoidin domain receptor tyrosine kinase 1ENSG0000020458025
INSRR / P14616 / insulin receptor related receptorENSG0000002764424
ROS1 / P08922 / ROS proto-oncogene 1, receptor tyrosine kinaseENSG0000004793623
ROR1 / Q01973 / receptor tyrosine kinase like orphan receptor 1ENSG0000018548322
ALK / Q9UM73 / ALK receptor tyrosine kinaseENSG0000017109422
ROR2 / Q01974 / receptor tyrosine kinase like orphan receptor 2ENSG0000016907121
PTK7 / Q13308 / protein tyrosine kinase 7 (inactive)ENSG0000011265520
LTK / P29376 / leukocyte receptor tyrosine kinaseENSG0000006252418


Protein motifs (from Interpro)
Interpro ID Name
 IPR000483  Cysteine-rich flanking region, C-terminal
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001611  Leucine-rich repeat
 IPR002011  Tyrosine-protein kinase, receptor class II, conserved site
 IPR007110  Immunoglobulin-like domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR013783  Immunoglobulin-like fold
 IPR017441  Protein kinase, ATP binding site
 IPR020461  Tyrosine-protein kinase, neurotrophic receptor, type 1
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR020777  Tyrosine-protein kinase, neurotrophic receptor
 IPR031635  Tyrosine-protein kinase receptor NTRK, C2-Ig-like domain
 IPR032675  Leucine-rich repeat domain superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000186 activation of MAPKK activity TAS
 biological_processGO:0001934 positive regulation of protein phosphorylation TAS
 biological_processGO:0006468 protein phosphorylation IDA
 biological_processGO:0007018 microtubule-based movement TAS
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0007611 learning or memory IEA
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0008285 negative regulation of cell proliferation IDA
 biological_processGO:0009314 response to radiation IEA
 biological_processGO:0010623 programmed cell death involved in cell development ISS
 biological_processGO:0010976 positive regulation of neuron projection development IDA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IDA
 biological_processGO:0019233 sensory perception of pain IEA
 biological_processGO:0021553 olfactory nerve development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030183 B cell differentiation IEA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0035094 response to nicotine IEA
 biological_processGO:0038083 peptidyl-tyrosine autophosphorylation IMP
 biological_processGO:0038179 neurotrophin signaling pathway IEA
 biological_processGO:0038180 nerve growth factor signaling pathway IMP
 biological_processGO:0042490 mechanoreceptor differentiation IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043066 negative regulation of apoptotic process TAS
 biological_processGO:0043068 positive regulation of programmed cell death ISS
 biological_processGO:0043524 negative regulation of neuron apoptotic process ISS
 biological_processGO:0043547 positive regulation of GTPase activity IDA
 biological_processGO:0046579 positive regulation of Ras protein signal transduction IDA
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0048011 neurotrophin TRK receptor signaling pathway IDA
 biological_processGO:0048013 ephrin receptor signaling pathway IEA
 biological_processGO:0048015 phosphatidylinositol-mediated signaling TAS
 biological_processGO:0048485 sympathetic nervous system development ISS
 biological_processGO:0048678 response to axon injury IEA
 biological_processGO:0050965 detection of temperature stimulus involved in sensory perception of pain IEA
 biological_processGO:0050966 detection of mechanical stimulus involved in sensory perception of pain IEA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IDA
 biological_processGO:0051599 response to hydrostatic pressure IEA
 biological_processGO:0051602 response to electrical stimulus IEA
 biological_processGO:0051965 positive regulation of synapse assembly IEA
 biological_processGO:0051968 positive regulation of synaptic transmission, glutamatergic IEA
 biological_processGO:0060009 Sertoli cell development IEA
 biological_processGO:0060384 innervation IEA
 biological_processGO:0060385 axonogenesis involved in innervation ISS
 biological_processGO:0061368 behavioral response to formalin induced pain IEA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IDA
 biological_processGO:0071316 cellular response to nicotine IEA
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 biological_processGO:1901215 negative regulation of neuron death IEA
 biological_processGO:1990090 cellular response to nerve growth factor stimulus ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome TAS
 cellular_componentGO:0005769 early endosome ISS
 cellular_componentGO:0005770 late endosome ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0031902 late endosome membrane IEA
 cellular_componentGO:0032991 protein-containing complex ISS
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043235 receptor complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity IDA
 molecular_functionGO:0004714 transmembrane receptor protein tyrosine kinase activity IMP
 molecular_functionGO:0005004 GPI-linked ephrin receptor activity IEA
 molecular_functionGO:0005030 neurotrophin receptor activity IEA
 molecular_functionGO:0005166 neurotrophin p75 receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0010465 nerve growth factor receptor activity IMP
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019900 kinase binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0043121 neurotrophin binding TAS
 molecular_functionGO:0048406 nerve growth factor binding IDA


Pathways (from Reactome)
Pathway description
PLC-gamma1 signalling
Signalling to RAS
Frs2-mediated activation
ARMS-mediated activation
Retrograde neurotrophin signalling
NGF-independant TRKA activation
TRKA activation by NGF
Signalling to p38 via RIT and RIN
PI3K/AKT activation
Signalling to STAT3


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000491 Keratitis "Inflammation of the cornea." [HPO:curators]
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 HP:0000495 Recurrent corneal erosions "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators]
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 HP:0000559 Corneal scarring 
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 HP:0000712 Emotional lability 
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 HP:0000737 Irritability 
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 HP:0000742 Self-mutilation 
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 HP:0000752 Hyperactivity 
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 HP:0000970 Anhidrosis "Inability to sweat." [HPO:curators]
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 HP:0001072 Thickened skin 
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 HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation of the digits 
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 HP:0001249 Mental retardation 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001954 Fever, episodic "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators]
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 HP:0002164 Nail dysplasia 
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 HP:0002459 Dysautonomia 
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 HP:0002754 Osteomyelitis 
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 HP:0002821 Neuropathic arthropathy 
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 HP:0002865 Medullary thyroid carcinoma 
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 HP:0003593 Early onset 
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 HP:0004782 Hypotrichosis of the scalp "Reduced or lacking hair growth of the scalp." [HPO:curators]
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 HP:0005307 Postural hypotension with compensatory tachycardia 
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 HP:0007021 Pain insensitivity, diffuse 
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 HP:0007249 Decreased small myelinated nerve fibers 
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 HP:0007328 Decreased pain sensation "Reduced ability to perceive painful stimuli." [HPO:curators]
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 HP:0007759 Corneal opacities, not impairing visual acuity 
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 HP:0008404 Nail dystrophy, variable 
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 HP:0011073 Abnormality of dental color "A developmental defect of tooth color." [HPO:ibailleulforestier]
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 HP:0012804 Corneal ulceration "Disruption of the epithelial layer of the cornea with involvement of the underlying stroma." [HPO:probinson]
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 HP:0100679 Lack of skin elasticity 
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 HP:0100716 Autoagression "Aggression towards oneself." [HPO:sdoelken]
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100246 DNAL4 / O96015 / dynein axonemal light chain 4  / reaction
 ENSG00000105647 O00459 / PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2  / complex / reaction
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000122705 CLTA / P09496 / clathrin light chain A  / complex / reaction
 ENSG00000134313 Q9ULH0 / KIDINS220 / kinase D interacting substrate 220  / complex / reaction
 ENSG00000042753 AP2S1 / P53680 / adaptor related protein complex 2 sigma 1 subunit  / reaction / complex
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction / complex
 ENSG00000129946 SHC2 / P98077 / SHC adaptor protein 2  / reaction / complex
 ENSG00000078549 P41586 / ADCYAP1R1 / ADCYAP receptor type I  / complex / reaction
 ENSG00000167193 CRK / P46108 / CRK proto-oncogene, adaptor protein  / reaction / complex
 ENSG00000141433 P18509 / ADCYAP1 / adenylate cyclase activating polypeptide 1  / reaction / complex
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / reaction / complex
 ENSG00000169047 IRS1 / P35568 / insulin receptor substrate 1  / complex / reaction
 ENSG00000161203 AP2M1 / Q96CW1 / adaptor related protein complex 2 mu 1 subunit  / reaction / complex
 ENSG00000157764 BRAF / P15056 / B-Raf proto-oncogene, serine/threonine kinase  / reaction / complex
 ENSG00000141367 CLTC / Q00610 / clathrin heavy chain  / reaction / complex
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000183020 AP2A2 / O94973 / adaptor related protein complex 2 alpha 2 subunit  / complex / reaction
 ENSG00000152214 RIT2 / Q99578 / Ras like without CAAX 2  / complex / reaction
 ENSG00000128271 P29274 / ADORA2A / adenosine A2a receptor  / complex / reaction
 ENSG00000166913 YWHAB / P31946 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta  / complex / reaction
 ENSG00000116473 RAP1A / P62834 / RAP1A, member of RAS oncogene family  / complex / reaction
 ENSG00000196961 AP2A1 / O95782 / adaptor related protein complex 2 alpha 1 subunit  / reaction / complex
 ENSG00000099942 CRKL / P46109 / CRK like proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000166225 FRS2 / Q8WU20 / fibroblast growth factor receptor substrate 2  / complex / reaction
 ENSG00000134259 NGF / P01138 / nerve growth factor  / reaction / complex
 ENSG00000107263 Q13905 / RAPGEF1 / Rap guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000168610 STAT3 / P40763 / signal transducer and activator of transcription 3  / reaction
 ENSG00000198400 NTRK1 / P04629 / neurotrophic receptor tyrosine kinase 1  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000143622 RIT1 / Q92963 / Ras like without CAAX 1  / reaction / complex
 ENSG00000148082 SHC3 / Q92529 / SHC adaptor protein 3  / complex / reaction
 ENSG00000185950 IRS2 / Q9Y4H2 / insulin receptor substrate 2  / reaction / complex
 ENSG00000107295 Q99962 / SH3GL2 / SH3 domain containing GRB2 like 2, endophilin A1  / reaction / complex
 ENSG00000006125 AP2B1 / P63010 / adaptor related protein complex 2 beta 1 subunit  / complex / reaction






 

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