Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NTRK1 Gene

Aliases for NTRK1 Gene

  • Neurotrophic Receptor Tyrosine Kinase 1 2 3
  • Neurotrophic Tyrosine Kinase, Receptor, Type 1 2 3 5
  • 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 63
  • 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
  • High Affinity Nerve Growth Factor Receptor 2
  • Tyrosine Kinase Receptor 4
  • Oncogene TRK 3
  • EC 2.7.10 63
  • 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, mental retardation 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]

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 medullary thyroid carcinoma, familial. Among its related pathways are Signaling by GPCR and Alzheimers Disease Pathway. GO annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is ALK.

UniProtKB/Swiss-Prot 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, it 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. Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation. 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 is resistant to NGF, 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NTRK1 Gene

Genomics for NTRK1 Gene

Regulatory Elements for NTRK1 Gene

Promoters for NTRK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NTRK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NTRK1 Gene

Chromosome:
1
Start:
156,815,640 bp from pter
End:
156,881,850 bp from pter
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. Interacts with SQSTM1; bridges NTRK1 to NGFR. 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. Interacts (phosphorylated upon activation by NGF) with PLCG1; mediates PLCG1 phosphorylation and activation. Interacts (phosphorylated) with SH2B1 and SH2B2. Interacts with GRB2. Interacts with PIK3R1. Interacts with FRS2. Interacts with SORT1; may regulate NTRK1 anterograde axonal transport. 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).
    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

Proteomics data for NTRK1 Gene at MOPED

Post-translational modifications for NTRK1 Gene

  • Ligand-mediated autophosphorylation. Interaction with SQSTM1 is phosphotyrosine-dependent. Autophosphorylation at Tyr-496 mediates interaction and phosphorylation of SHC1.
  • N-glycosylated (Probable). Isoform TrkA-I is N-glycosylated.
  • Ubiquitinated. Undergoes polyubiquitination upon activation; regulated by NGFR. Ubiquitination regulates the internalization of the receptor (By similarity).
  • Glycosylation at Asn 67, Asn 95, Asn 121, Asn 188, Asn 202, Asn 253, Asn 262, Asn 281, Asn 318, Asn 323, Asn 338, Asn 358, and Asn 401
  • Modification sites at PhosphoSitePlus

Other Protein References for NTRK1 Gene

Domains & Families for NTRK1 Gene

Suggested Antigen Peptide Sequences for NTRK1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 2 LRR (leucine-rich) repeats.
Domain:
  • The transmembrane domain mediates interaction with KIDINS220.
  • The extracellular domain mediates interaction with NGFR.
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 LRRCT domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Similarity:
  • Contains 2 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with NTRK1: view

Function for NTRK1 Gene

Molecular function for NTRK1 Gene

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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
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 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, it 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. Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation. 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 is resistant to NGF, 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 Induction:
Isoform TrkA-III is up-regulated upon hypoxia in cells normally expressing it.

Enzyme Numbers (IUBMB) for NTRK1 Gene

Gene Ontology (GO) - Molecular Function for NTRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA --
GO:0005030 neurotrophin receptor activity IEA --
GO:0005166 neurotrophin p75 receptor binding IEA --
GO:0043121 neurotrophin binding TAS 9290260
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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. Note=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 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NTRK1 Gene COMPARTMENTS Subcellular localization image for NTRK1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 5
extracellular 5
golgi apparatus 5
nucleus 5
plasma membrane 5
lysosome 2
mitochondrion 2
vacuole 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NTRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome TAS --
GO:0005770 late endosome IEA,ISS --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with NTRK1: view

Pathways & Interactions for NTRK1 Gene

genes like me logo Genes that share pathways with NTRK1: view

SIGNOR curated interactions for NTRK1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for NTRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IEA,TAS 19036963
GO:0006468 protein phosphorylation IEA,IDA 15488758
GO:0007018 microtubule-based movement TAS --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0007190 activation of adenylate cyclase activity TAS --
genes like me logo Genes that share ontologies with NTRK1: view

Drugs & Compounds for NTRK1 Gene

(48) Drugs for NTRK1 Gene - From: DGIdb, Novoseek, PharmGKB, ApexBio, ClinicalTrials, DrugBank, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
imatinib Approved Pharma inhibitor, Target, antagonist Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
regorafenib Approved Pharma inhibitor, Target Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
Amitriptyline Approved Pharma Antagonist, Target, agonist 100
Aspirin Approved Pharma Channel blocker 1029
Crizotinib Approved Pharma C-MET/ALK inhibitor,potent and ATP-competitve, cMET Inhibitors, Kinase Inhibitors, Anaplastic lymphoma kinase (ALK) inhibitor, Potent c-MET/ALK inhibitor 92

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-desmethylimatinib
  • CGP74588
7,8-Dihydroxyflavone
38183-03-8
ANA 12
219766-25-3
BDNF (human)
218441-99-7
Cyclotraxin B
1203586-72-4
genes like me logo Genes that share compounds with NTRK1: view

Drug Products

Transcripts for NTRK1 Gene

Unigene Clusters for NTRK1 Gene

Neurotrophic tyrosine kinase, receptor, type 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 for NTRK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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.
genes like me logo Genes that share expression patterns with NTRK1: view

Primer Products

In Situ Assay Products

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 35
  • 99.62 (n)
  • 99.75 (a)
NTRK1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NTRK1 36
  • 93 (a)
OneToOne
NTRK1 35
  • 90.55 (n)
  • 93.1 (a)
dog
(Canis familiaris)
Mammalia NTRK1 35
  • 89.67 (n)
  • 92.32 (a)
NTRK1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ntrk1 16
Ntrk1 35
  • 85.47 (n)
  • 87.28 (a)
Ntrk1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NTRK1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ntrk1 35
  • 85.35 (n)
  • 86.9 (a)
chicken
(Gallus gallus)
Aves NTRK1 35
  • 68.09 (n)
  • 63.73 (a)
NTRK1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NTRK1 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ntrk1 35
  • 62.23 (n)
  • 61.06 (a)
zebrafish
(Danio rerio)
Actinopterygii ntrk1 36
  • 53 (a)
OneToOne
ntrk1 35
  • 58.33 (n)
  • 54.43 (a)
worm
(Caenorhabditis elegans)
Secernentea trk-1 36
  • 22 (a)
OneToMany
Species with no ortholog for NTRK1:
  • 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)

Paralogs for NTRK1 Gene

Paralogs for NTRK1 Gene

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 Sequence Context AA Info Type
VAR_004103 Congenital insensitivity to pain with anhidrosis (CIPA)
VAR_009623 -
VAR_009624 Congenital insensitivity to pain with anhidrosis (CIPA)
VAR_009625 Congenital insensitivity to pain with anhidrosis (CIPA)
VAR_009626 Congenital insensitivity to pain with anhidrosis (CIPA)

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

Variant ID Type Subtype PubMed ID
nsv831648 CNV Loss 17160897
nsv831659 CNV Loss 17160897
esv1010343 CNV Deletion 20482838
esv2718451 CNV Deletion 23290073
dgv49e201 CNV Deletion 23290073
esv2718462 CNV Deletion 23290073
esv1001917 CNV Deletion 20482838
esv1637866 CNV Deletion 17803354

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)

Relevant External Links for NTRK1 Gene

HapMap Linkage Disequilibrium report
NTRK1
Human Gene Mutation Database (HGMD)
NTRK1

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

Disorders for NTRK1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for NTRK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
insensitivity to pain, congenital, with anhidrosis
  • familial dysautonomia, type ii
medullary thyroid carcinoma, familial
  • medullary thyroid carcinoma
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
neuropathy, hereditary sensory and autonomic, type v
  • insensitivity to pain, congenital
ntrk1-related familial medullary thyroid carcinoma
  • ntrk1-related familial medullary thyroid cancer
- 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:11310631, ECO:0000269 PubMed:22302274, 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}.

Relevant External Links for NTRK1

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

No data available for Genatlas for NTRK1 Gene

Publications for NTRK1 Gene

  1. A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences. (PMID: 2869410) Martin-Zanca D. … Barbacid M. (Nature 1986) 2 3 4 67
  2. The studies on the correlation for gene expression of tyrosine-kinase receptors and vascular endothelial growth factor in human neuroblastomas. (PMID: 20186105) Zhang J. … Tong H. (J. Pediatr. Hematol. Oncol. 2010) 3 23
  3. Repression of SHP-1 expression by p53 leads to trkA tyrosine phosphorylation and suppression of breast cancer cell proliferation. (PMID: 19749791) Montano X. (Oncogene 2009) 3 23
  4. Interplay between autophagy and apoptosis in TrkA-induced cell death. (PMID: 19115484) Dadakhujaev S. … Kim D.R. (Autophagy 2009) 3 23
  5. c.1810C>T polymorphism of NTRK1 gene is associated with reduced survival in neuroblastoma patients. (PMID: 20003389) Lipska B.S. … Limon J. (BMC Cancer 2009) 3 23

Products for NTRK1 Gene

  • Addgene plasmids for NTRK1

Sources for NTRK1 Gene

Back to Top

Content