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 wit... See more...

Aliases for NTRK1 Gene

Aliases for NTRK1 Gene

  • Neurotrophic Receptor Tyrosine Kinase 1 2 3 5
  • High Affinity Nerve Growth Factor Receptor 2 3 4
  • Neurotrophic Tyrosine Kinase, Receptor, Type 1 2 3
  • TRK1-Transforming Tyrosine Kinase Protein 3 4
  • Tropomyosin-Related Kinase A 3 4
  • Tyrosine Kinase Receptor A 3 4
  • EC 2.7.10.1 4 54
  • P140-TrkA 3 4
  • Gp140trk 3 4
  • Trk-A 3 4
  • TRKA 3 4
  • MTC 3 4
  • TRK 3 4
  • Neurotrophic Tyrosine Kinase Receptor Type 1 4
  • Tyrosine Kinase Receptor 4
  • Oncogene TRK 3
  • EC 2.7.10 54
  • TRK1 3

External Ids for NTRK1 Gene

Previous GeneCards Identifiers for NTRK1 Gene

  • GC01P154699
  • GC01P152595
  • GC01P153609
  • GC01P154047
  • GC01P153643
  • GC01P155052
  • GC01P128143

Summaries for NTRK1 Gene

Entrez Gene Summary for NTRK1 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 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]

CIViC Summary for NTRK1 Gene

GeneCards Summary for NTRK1 Gene

NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1) is a Protein Coding gene. Diseases associated with NTRK1 include Insensitivity To Pain, Congenital, With Anhidrosis and Thyroid Carcinoma, Familial Medullary. Among its related pathways are Endometrial cancer and RET signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is NTRK3.

UniProtKB/Swiss-Prot Summary for NTRK1 Gene

  • 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:1850821, PubMed:1849459, PubMed:1281417, PubMed:8325889, PubMed:15488758, PubMed:22649032, PubMed:17196528, PubMed:27445338). 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.
  • Isoform TrkA-III: Resistant to NGF, it constitutively activates AKT1 and NF-kappa-B and is unable to activate the Ras-MAPK signaling cascade. Antagonizes the anti-proliferative NGF-NTRK1 signaling that promotes neuronal precursors differentiation. Isoform TrkA-III promotes angiogenesis and has oncogenic activity when overexpressed.

Tocris Summary for NTRK1 Gene

  • Trk (neurotrophin) receptors are single transmembrane catalytic receptors with intracellular tyrosine kinase activity. Trk receptors are coupled to the Ras, Cdc42/Rac/RhoG, MAPK, PI3K and PLCgamma signaling pathways. Four members of the Trk family have been identified.

Gene Wiki entry for NTRK1 Gene

Additional gene information for NTRK1 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NTRK1 Gene

Genomics for NTRK1 Gene

GeneHancer (GH) Regulatory Elements for NTRK1 Gene

Promoters and enhancers for NTRK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J156812 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +0.1 62 5.8 SP1 ZBTB40 CTCF MLX RBPJ SMARCE1 POLR2A USF2 NFYC ELF1 SH2D2A NTRK1 lnc-INSRR-1 RRNAD1 GLMP SSR2 LMNA GON4L PMF1 KHDC4
GH01J156859 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 750.3 +44.7 44661 2.2 CTCF SMARCE1 CC2D1A L3MBTL2 MAX DACH1 RAD21 ZNF148 ZFX MLLT1 INSRR lnc-SH2D2A-1 NTRK1 PRCC KHDC4 ARHGEF11 MF281431
GH01J156765 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 -47.7 -47743 4.4 SIN3A ZNF24 ZBTB40 SIX5 ZBTB6 LCORL FOXA1 POLR2A ATF1 CREB1 PRCC HDGF ENSG00000287624 RRNAD1 GON4L ISG20L2 ENSG00000237842 KHDC4 CCT3 ENSG00000223356
GH01J156890 Enhancer 1 Ensembl ENCODE 11.7 +74.5 74495 1 CTCF SREBF1 HCFC1 CC2D1A L3MBTL2 RAD21 SP1 ZNF280D GTF2F1 SP7 KHDC4 RRNAD1 ISG20L2 LRRC71 INSRR NTRK1 PRCC MIR765 CCT3 ENSG00000237842
GH01J156836 Enhancer 0.9 FANTOM5 ENCODE 12.3 +20.6 20593 0.2 ETV6 RELA CREM ZBED1 IKZF1 BACH1 IKZF2 ZNF143 PKNOX1 DPF2 INSRR NTRK1 PEAR1 LRRC71 SH2D2A TSACC lnc-SH2D2A-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NTRK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NTRK1 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • CREB
  • deltaCREB
  • p53

Genomic Locations for NTRK1 Gene

Genomic Locations for NTRK1 Gene
chr1:156,815,640-156,881,850
(GRCh38/hg38)
Size:
66,211 bases
Orientation:
Plus strand
chr1:156,785,432-156,851,642
(GRCh37/hg19)
Size:
66,211 bases
Orientation:
Plus strand

Genomic View for NTRK1 Gene

Genes around NTRK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NTRK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NTRK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NTRK1 Gene

Proteins for NTRK1 Gene

  • Protein details for NTRK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04629-NTRK1_HUMAN
    Recommended name:
    High affinity nerve growth factor receptor
    Protein Accession:
    P04629
    Secondary Accessions:
    • B2R6T5
    • B7ZM34
    • P08119
    • Q15655
    • Q15656
    • Q5D056
    • Q5VZS2
    • Q7Z5C3
    • Q9UIU7

    Protein attributes for NTRK1 Gene

    Size:
    796 amino acids
    Molecular mass:
    87497 Da
    Quaternary structure:
    • Exists in a dynamic equilibrium between monomeric (low affinity) and dimeric (high affinity) structures. Homodimerization is induced by binding of a NGF dimer (PubMed:1281417, PubMed:10490030, PubMed:17196528). Interacts with SQSTM1; bridges NTRK1 to NGFR (PubMed:11244088). Forms a ternary complex with NGFR and KIDINS220; this complex is affected by the expression levels of KIDINS220 and an increase in KIDINS220 expression leads to a decreased association of NGFR and NTRK1 (By similarity). Interacts with SH2D1A; regulates NTRK1 (By similarity). Interacts (phosphorylated upon activation by NGF) with SHC1; mediates SHC1 phosphorylation and activation (PubMed:8155326, PubMed:15488758). Interacts (phosphorylated upon activation by NGF) with PLCG1; mediates PLCG1 phosphorylation and activation (PubMed:7510697, PubMed:15488758). Interacts (phosphorylated) with SH2B1 and SH2B2 (By similarity). Interacts with GRB2 (PubMed:15488758). Interacts with PIK3R1 (PubMed:15488758). Interacts with FRS2 (PubMed:15488758). Interacts with SORT1; may regulate NTRK1 anterograde axonal transport (PubMed:21102451). Interacts with RAB7A (By similarity). Found in a complex, at least composed of KIDINS220, MAGI2, NTRK1 and RAPGEF2; the complex is mainly formed at late endosomes in a nerve growth factor (NGF)-dependent manner (By similarity). Interacts with RAPGEF2; the interaction is strengthened after NGF stimulation (By similarity). Interacts with PTPRS (By similarity). Interacts with USP36; USP36 does not deubiquitinate NTRK1 (PubMed:27445338). Interacts with GGA3 (PubMed:26446845).
    Miscellaneous:
    • Trk also stands for tropomyosin-related kinase since it was first isolated as an oncogenic protein which was the result of a fusion between the tropomyosin gene TPM3 and NTRK1.
    SequenceCaution:
    • Sequence=CAA27243.1; Type=Erroneous termination; Positions=786; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=CAA27243.1; Type=Frameshift; Positions=769; Evidence={ECO:0000305}; Sequence=CAA27243.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=CAA29888.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=CAA44719.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=CAA59936.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NTRK1 Gene

    Alternative splice isoforms for NTRK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NTRK1 Gene

Selected DME Specific Peptides for NTRK1 Gene

P04629:
  • RWMPPESI
  • HHWCIPF
  • HRDLATRN
  • RRDIVLK
  • FVHRDLATRNC
  • PTHVNNGNYTL
  • ELGEGAFGKVFLAEC
  • GVVLWEI
  • FTYGKQPW
  • YMRHGDL
  • CWQREPQQR
  • FVHRDLA
  • AVLAPEDGLAMSLHFMTLG
  • HGDLNRFLRSHGPDAK

Post-translational modifications for NTRK1 Gene

  • Ligand-mediated autophosphorylation (PubMed:2927393, PubMed:1281417, PubMed:15488758, PubMed:7510697, PubMed:8155326, PubMed:8325889, PubMed:27676246, PubMed:28177573). Interaction with SQSTM1 is phosphotyrosine-dependent. Autophosphorylation at Tyr-496 mediates interaction and phosphorylation of SHC1 (PubMed:15488758, PubMed:7510697, PubMed:8155326, PubMed:8325889).
  • N-glycosylated (PubMed:2927393). Isoform TrkA-I and isoform TrkA-II are N-glycosylated.
  • Ubiquitinated (PubMed:27445338). Undergoes polyubiquitination upon activation; regulated by NGFR (PubMed:27445338). Ubiquitination by NEDD4L leads to degradation (PubMed:27445338). Ubiquitination regulates the internalization of the receptor (By similarity).
  • Glycosylation at Asn95, Asn67, Asn121, Asn188, Asn202, Asn253, Asn318, Asn323, Asn262, Asn338, Asn281, Asn358, and Asn401
  • Modification sites at PhosphoSitePlus

Other Protein References for NTRK1 Gene

Antibody Products

  • Abcam antibodies for NTRK1

Domains & Families for NTRK1 Gene

Gene Families for NTRK1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for NTRK1 Gene

GenScript: Design optimal peptide antigens:
  • Tyrosine-protein kinase receptor (A6NF12_HUMAN)
  • p140-TrkA (NTRK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04629

UniProtKB/Swiss-Prot:

NTRK1_HUMAN :
  • The transmembrane domain mediates interaction with KIDINS220.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Domain:
  • The transmembrane domain mediates interaction with KIDINS220.
  • The extracellular domain mediates interaction with NGFR.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
genes like me logo Genes that share domains with NTRK1: view

Function for NTRK1 Gene

Molecular function for NTRK1 Gene

UniProtKB/Swiss-Prot 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 for NGF which is its primary ligand (PubMed:1850821, PubMed:1849459, PubMed:1281417, PubMed:8325889, PubMed:15488758, PubMed:22649032, PubMed:17196528, PubMed:27445338). 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.
UniProtKB/Swiss-Prot Function:
Isoform TrkA-III: Resistant to NGF, it constitutively activates AKT1 and NF-kappa-B and is unable to activate the Ras-MAPK signaling cascade. Antagonizes the anti-proliferative NGF-NTRK1 signaling that promotes neuronal precursors differentiation. Isoform TrkA-III promotes angiogenesis and has oncogenic activity when overexpressed.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence={ECO:0000255 PROSITE-ProRule:PRU10028, ECO:0000269 PubMed:1281417, ECO:0000269 PubMed:2927393};.
UniProtKB/Swiss-Prot EnzymeRegulation:
The pro-survival signaling effect of NTRK1 in neurons requires its endocytosis into signaling early endosomes and its retrograde axonal transport. This is regulated by different proteins including CFL1, RAC1 and SORT1. NTF3 is unable to induce this signaling probably due to the lability of the NTF3-NTRK1 complex in endosomes. SH2D1A inhibits the autophosphorylation of the receptor, and alters the recruitment and activation of downstream effectors and signaling cascades (By similarity). Regulated by NGFR (By similarity).
UniProtKB/Swiss-Prot Induction:
Isoform TrkA-III is up-regulated upon hypoxia in cells normally expressing it.
GENATLAS Biochemistry:
receptor tyrosine kinase A,binding nerve growth factor (NGFA,NGFB,NGFC),with high affinity,involved in the survival differentiation and maintenance of many neural and non neural cell types

Enzyme Numbers (IUBMB) for NTRK1 Gene

Phenotypes From GWAS Catalog for NTRK1 Gene

Gene Ontology (GO) - Molecular Function for NTRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity TAS,IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IMP,IEA 1281417
GO:0005004 GPI-linked ephrin receptor activity IEA --
genes like me logo Genes that share ontologies with NTRK1: view
genes like me logo Genes that share phenotypes with NTRK1: view

Human Phenotype Ontology for NTRK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NTRK1 Gene

MGI Knock Outs for NTRK1:

Animal Model Products

  • Taconic Biosciences Mouse Models for NTRK1

CRISPR Products

Clone Products

  • Addgene plasmids for NTRK1

Cell Line Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for NTRK1 Gene

Localization for NTRK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NTRK1 Gene

Cell membrane; Single-pass type I membrane protein. Early endosome membrane; Single-pass type I membrane protein. Late endosome membrane; Single-pass type I membrane protein. Recycling endosome membrane; Single-pass type I membrane protein. Note=Rapidly internalized after NGF binding (PubMed:1281417). Internalized to endosomes upon binding of NGF or NTF3 and further transported to the cell body via a retrograde axonal transport. Localized at cell membrane and early endosomes before nerve growth factor (NGF) stimulation. Recruited to late endosomes after NGF stimulation. Colocalized with RAPGEF2 at late endosomes. {ECO:0000250 UniProtKB:P35739, ECO:0000269 PubMed:1281417}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NTRK1 gene
Compartment Confidence
plasma membrane 5
endosome 4
golgi apparatus 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NTRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,ISS --
GO:0005770 late endosome ISS,IEA --
genes like me logo Genes that share ontologies with NTRK1: view

Pathways & Interactions for NTRK1 Gene

PathCards logo

SuperPathways for NTRK1 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
3 RET signaling
4 ERK Signaling
.61
.61
.58
.51
.49
5 Development HGF signaling pathway
genes like me logo Genes that share pathways with NTRK1: view

SIGNOR curated interactions for NTRK1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NTRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity TAS --
GO:0001934 positive regulation of protein phosphorylation TAS,IEA 19036963
GO:0006468 protein phosphorylation IDA,IEA 15488758
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA,IBA 21873635
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with NTRK1: view

Drugs & Compounds for NTRK1 Gene

(66) Drugs for NTRK1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
imatinib Approved Pharma Target, antagonist, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
regorafenib Approved Pharma Target, inhibitor Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
Tyrosine Approved, Investigational Nutra 938
Amitriptyline Approved Pharma Antagonist, Target, agonist, activator 118
Cenegermin Approved, Investigational Pharma Target, stimulator 0

(40) Additional Compounds for NTRK1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AG 879
148741-30-4
N-desmethylimatinib
  • CGP74588
LM11A 31 dihydrochloride
1243259-19-9

(4) Tocris Compounds for NTRK1 Gene

Compound Action Cas Number
AG 879 TrkA inhibitor 148741-30-4
BDNF (human) Activates TrkB and p75 receptors 218441-99-7
LM11A 31 dihydrochloride Nonpeptide p75NTR ligand; neuroprotective 1243259-19-9
TLQP 21 VGF-derived peptide 869988-94-3

(9) ApexBio Compounds for NTRK1 Gene

Compound Action Cas Number
7,8-Dihydroxyflavone 38183-03-8
BDNF (human) 218441-99-7
Cyclotraxin B 1203586-72-4
Danusertib (PHA-739358) Pan-aurora kinase inhibitor 827318-97-8
GNF-5837 Pan-Trk inhibitor 1033769-28-6
GW441756 TrkA inhibitor,potent and selective 504433-23-2
Lestaurtinib JAK2/FLT3/TrkA inhibitor 111358-88-4
LM 22A4 37988-18-4
NTR 368 197230-90-3
genes like me logo Genes that share compounds with NTRK1: view

Transcripts for NTRK1 Gene

mRNA/cDNA for NTRK1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for NTRK1

Alternative Splicing Database (ASD) splice patterns (SP) for NTRK1 Gene

No ASD Table

Relevant External Links for NTRK1 Gene

GeneLoc Exon Structure for
NTRK1
ECgene alternative splicing isoforms for
NTRK1

Expression for NTRK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NTRK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of NTRK1 Gene:

NTRK1

SOURCE GeneReport for Unigene cluster for NTRK1 Gene:

Hs.406293

mRNA Expression by UniProt/SwissProt for NTRK1 Gene:

P04629-NTRK1_HUMAN
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.

Evidence on tissue expression from TISSUES for NTRK1 Gene

  • Nervous system(4.7)
  • Blood(4.4)
  • Intestine(4.3)
  • Adrenal gland(3.2)
  • Skin(2.3)
  • Heart(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NTRK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • scalp
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with NTRK1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for NTRK1 Gene

Orthologs for NTRK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NTRK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NTRK1 33 32
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NTRK1 33 32
  • 90.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NTRK1 33 32
  • 89.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ntrk1 17 33 32
  • 85.47 (n)
rat
(Rattus norvegicus)
Mammalia Ntrk1 32
  • 85.35 (n)
oppossum
(Monodelphis domestica)
Mammalia NTRK1 33
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves NTRK1 33 32
  • 68.09 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NTRK1 33
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ntrk1 32
  • 62.23 (n)
zebrafish
(Danio rerio)
Actinopterygii ntrk1 33 32
  • 58.33 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea trk-1 33
  • 22 (a)
OneToMany
Species where no ortholog for NTRK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NTRK1 Gene

ENSEMBL:
Gene Tree for NTRK1 (if available)
TreeFam:
Gene Tree for NTRK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NTRK1: view image

Paralogs for NTRK1 Gene

(34) SIMAP similar genes for NTRK1 Gene using alignment to 3 proteins:

  • NTRK1_HUMAN
  • E9PQG0_HUMAN
  • J3KP20_HUMAN
genes like me logo Genes that share paralogs with NTRK1: view

Variants for NTRK1 Gene

Sequence variations from dbSNP and Humsavar for NTRK1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1007211 benign, likely-benign, not specified, Hereditary insensitivity to pain with anhidrosis, not provided, - 156,860,987(+) G/A coding_sequence_variant, intron_variant, missense_variant
rs1026300967 likely-pathogenic, Inborn genetic diseases 156,868,246(+) T/C coding_sequence_variant, missense_variant
rs1035934237 uncertain-significance, Hereditary insensitivity to pain with anhidrosis, Familial medullary thyroid carcinoma 156,876,103(+) G/A/C coding_sequence_variant, missense_variant
rs1057521447 likely-benign, not specified, Hereditary insensitivity to pain with anhidrosis 156,880,019(+) G/A coding_sequence_variant, synonymous_variant
rs114320051 likely-benign, benign, not specified, Hereditary insensitivity to pain with anhidrosis 156,868,542(+) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for NTRK1 Gene

Variant ID Type Subtype PubMed ID
dgv108e212 CNV loss 25503493
dgv37e201 CNV deletion 23290073
esv1001917 CNV deletion 20482838
esv1010343 CNV deletion 20482838
esv1637866 CNV deletion 17803354
esv2718451 CNV deletion 23290073
esv2718462 CNV deletion 23290073
esv3578202 CNV loss 25503493
nsv1006558 CNV gain 25217958
nsv1133913 CNV deletion 24896259
nsv1145375 CNV deletion 24896259
nsv831648 CNV loss 17160897
nsv831659 CNV loss 17160897
nsv998265 CNV gain 25217958

Variation tolerance for NTRK1 Gene

Residual Variation Intolerance Score: 68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.51; 71.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NTRK1 Gene

Human Gene Mutation Database (HGMD)
NTRK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NTRK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NTRK1 Gene

Disorders for NTRK1 Gene

MalaCards: The human disease database

(55) MalaCards diseases for NTRK1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
insensitivity to pain, congenital, with anhidrosis
  • cipa
thyroid carcinoma, familial medullary
  • mtc
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
charcot-marie-tooth disease/hereditary motor and sensory neuropathy
  • charcot-marie-tooth hereditary neuropathy
charcot-marie-tooth disease
  • peroneal muscular atrophy
- elite association - COSMIC cancer census association via MalaCards
Search NTRK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NTRK1_HUMAN
  • Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]: Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II. {ECO:0000269 PubMed:10090906, ECO:0000269 PubMed:10233776, ECO:0000269 PubMed:10330344, ECO:0000269 PubMed:10567924, ECO:0000269 PubMed:10861667, ECO:0000269 PubMed:10982191, ECO:0000269 PubMed:11159935, ECO:0000269 PubMed:11310631, ECO:0000269 PubMed:18077166, ECO:0000269 PubMed:22302274, ECO:0000269 PubMed:27676246, ECO:0000269 PubMed:28177573, ECO:0000269 PubMed:28328124, ECO:0000269 PubMed:8696348}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Chromosomal aberrations involving NTRK1 are found in papillary thyroid carcinomas (PTCs) (PubMed:2869410, PubMed:7565764, PubMed:1532241). Translocation t(1;3)(q21;q11) with TFG generates the TRKT3 (TRK-T3) transcript by fusing TFG to the 3'-end of NTRK1 (PubMed:7565764). A rearrangement with TPM3 generates the TRK transcript by fusing TPM3 to the 3'-end of NTRK1 (PubMed:2869410). An intrachromosomal rearrangement that links the protein kinase domain of NTRK1 to the 5'-end of the TPR gene forms the fusion protein TRK-T1. TRK-T1 is a 55 kDa protein reacting with antibodies against the C-terminus of the NTRK1 protein (PubMed:1532241). {ECO:0000269 PubMed:1532241, ECO:0000269 PubMed:2869410, ECO:0000269 PubMed:7565764}.

Additional Disease Information for NTRK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NTRK1: view

No data available for Genatlas for NTRK1 Gene

Publications for NTRK1 Gene

  1. c.1810C>T polymorphism of NTRK1 gene is associated with reduced survival in neuroblastoma patients. (PMID: 20003389) Lipska BS … Limon J (BMC cancer 2009) 3 23 43 56
  2. Structural and mechanistic insights into nerve growth factor interactions with the TrkA and p75 receptors. (PMID: 17196528) Wehrman T … Garcia KC (Neuron 2007) 3 4 23 56
  3. Methylation adjacent to negatively regulating AP-1 site reactivates TrkA gene expression during cancer progression. (PMID: 15870692) Fujimoto M … Kitazawa S (Oncogene 2005) 3 4 23 56
  4. Lack of association between TrkA single nucleotide polymorphisms and sporadic Alzheimer's disease in a Japanese population. (PMID: 14642435) Sakasegawa Y … Kaneko K (Neuroscience letters 2003) 3 23 43 56
  5. Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. (PMID: 11159935) Mardy S … Indo Y (Human molecular genetics 2001) 3 4 23 56

Products for NTRK1 Gene