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NTRK1 neurotrophic receptor tyrosine kinase 1 [ Homo sapiens (human) ]

Gene ID: 4914, updated on 24-Nov-2020

Summary

Official Symbol
NTRK1provided by HGNC
Official Full Name
neurotrophic receptor tyrosine kinase 1provided by HGNC
Primary source
HGNC:HGNC:8031
See related
Ensembl:ENSG00000198400 MIM:191315
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTC; TRK; TRK1; TRKA; Trk-A; p140-TrkA
Summary
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]
Expression
Biased expression in adrenal (RPKM 3.7), testis (RPKM 1.0) and 10 other tissues See more
Orthologs

Genomic context

See NTRK1 in Genome Data Viewer
Location:
1q23.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (156815750..156881850)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156785542..156851642)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene heparin binding growth factor Neighboring gene proline rich mitotic checkpoint control factor Neighboring gene SH2 domain containing 2A Neighboring gene insulin receptor related receptor Neighboring gene platelet endothelial aggregation receptor 1 Neighboring gene leucine rich repeat containing 71 Neighboring gene Rho guanine nucleotide exchange factor 11 Neighboring gene microRNA 765

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in NTRK1 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 Env (gp120) exposure downregulates TrkA, TrkB, and TrkC mRNA levels in dorsal root ganglion neurons PubMed
Vpr vpr Treatment of cultured dorsal root ganglion sensory neurons with HIV-1 Vpr downregulates expression of TrKA and pGSK3beta/GSK3beta proteins and pre-treatment with NGF inhibits this Vpr-induced downregulation of TrKA and pGSK3beta/GSK3beta PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781I14186

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GPI-linked ephrin receptor activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase binding IEA
Inferred from Electronic Annotation
more info
 
nerve growth factor binding IDA
Inferred from Direct Assay
more info
PubMed 
nerve growth factor receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
nerve growth factor receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurotrophin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotrophin p75 receptor binding IEA
Inferred from Electronic Annotation
more info
 
neurotrophin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase activity TAS
Traceable Author Statement
more info
 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Sertoli cell development IEA
Inferred from Electronic Annotation
more info
 
activation of MAPKK activity TAS
Traceable Author Statement
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
axon guidance IEA
Inferred from Electronic Annotation
more info
 
axonogenesis involved in innervation ISS
Inferred from Sequence or Structural Similarity
more info
 
behavioral response to formalin induced pain IEA
Inferred from Electronic Annotation
more info
 
NOT cellular response to amyloid-beta IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to nerve growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to nerve growth factor stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to nerve growth factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to nicotine IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
detection of mechanical stimulus involved in sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
detection of temperature stimulus involved in sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
learning or memory IEA
Inferred from Electronic Annotation
more info
 
mechanoreceptor differentiation IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
nerve growth factor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nerve growth factor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurotrophin TRK receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
neurotrophin TRK receptor signaling pathway TAS
Traceable Author Statement
more info
 
olfactory nerve development IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine autophosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-mediated signaling TAS
Traceable Author Statement
more info
 
NOT positive regulation of ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of programmed cell death ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
programmed cell death involved in cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein kinase B signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to axon injury IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to hydrostatic pressure IEA
Inferred from Electronic Annotation
more info
 
response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
response to radiation IEA
Inferred from Electronic Annotation
more info
 
sympathetic nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
early endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
late endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
protein-containing complex ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
high affinity nerve growth factor receptor
Names
Oncogene TRK
TRK1-transforming tyrosine kinase protein
gp140trk
neurotrophic tyrosine kinase, receptor, type 1
tropomyosin-related kinase A
tyrosine kinase receptor A
NP_001007793.1
NP_001012331.1
NP_002520.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007493.1 RefSeqGene

    Range
    5001..71101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_261

mRNA and Protein(s)

  1. NM_001007792.1NP_001007793.1  high affinity nerve growth factor receptor isoform 3

    See identical proteins and their annotated locations for NP_001007793.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) utilizes alternate 5' exons and lacks an internal in-frame exon, compared to variant 2. Translation initiation occurs at an upstream AUG, resulting in a shorter isoform (3) with a unique N-terminus compared to isoform 2.
    Source sequence(s)
    AL158169, BC062580
    Consensus CDS
    CCDS30890.1
    UniProtKB/Swiss-Prot
    P04629
    Related
    ENSP00000376120.2, ENST00000392302.6
    Conserved Domains (7) summary
    cd04971
    Location:269349
    Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd04972
    Location:165252
    Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd05092
    Location:468747
    PTKc_TrkA; Catalytic domain of the Protein Tyrosine Kinase, Tropomyosin Related Kinase A
    sd00031
    Location:6386
    LRR_1; leucine-rich repeat [structural motif]
    pfam07714
    Location:474745
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13855
    Location:62120
    LRR_8; Leucine rich repeat
    pfam16920
    Location:121162
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
  2. NM_001012331.2NP_001012331.1  high affinity nerve growth factor receptor isoform 1 precursor

    See identical proteins and their annotated locations for NP_001012331.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an internal, in-frame exon, compared to variant 2, resulting in a shorter isoform (1) lacking an internal segment compared to isoform 2.
    Source sequence(s)
    AL158169, BC062580, BM685020, M23102
    Consensus CDS
    CCDS30891.1
    UniProtKB/Swiss-Prot
    P04629
    UniProtKB/TrEMBL
    X5DR71
    Related
    ENSP00000357179.3, ENST00000368196.7
    Conserved Domains (7) summary
    cd04971
    Location:299379
    Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd04972
    Location:195282
    Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd05092
    Location:498777
    PTKc_TrkA; Catalytic domain of the Protein Tyrosine Kinase, Tropomyosin Related Kinase A
    sd00031
    Location:6892
    LRR_1; leucine-rich repeat [structural motif]
    pfam07714
    Location:504775
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13855
    Location:92150
    LRR_8; Leucine rich repeat
    pfam16920
    Location:151192
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
  3. NM_002529.4NP_002520.2  high affinity nerve growth factor receptor isoform 2 precursor

    See identical proteins and their annotated locations for NP_002520.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
    Source sequence(s)
    AL158169, BC062580, M23102, X06704
    Consensus CDS
    CCDS1161.1
    UniProtKB/Swiss-Prot
    P04629
    Related
    ENSP00000431418.1, ENST00000524377.5
    Conserved Domains (7) summary
    cd04971
    Location:299379
    Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd04972
    Location:195282
    Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd05092
    Location:504783
    PTKc_TrkA; Catalytic domain of the Protein Tyrosine Kinase, Tropomyosin Related Kinase A
    sd00031
    Location:6892
    LRR_1; leucine-rich repeat [structural motif]
    pfam07714
    Location:510781
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13855
    Location:92150
    LRR_8; Leucine rich repeat
    pfam16920
    Location:151192
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    156815750..156881850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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