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Aliases for NTRK1 Gene

Aliases for NTRK1 Gene

  • Neurotrophic Tyrosine Kinase, Receptor, Type 1 2 3
  • TRKA 3 4 6
  • MTC 3 4 6
  • High Affinity Nerve Growth Factor Receptor 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 63
  • P140-TrkA 3 4
  • Gp140trk 3 4
  • Trk-A 3 4
  • TRK 3 4
  • Neurotrophic Tyrosine Kinase Receptor Type 1 4
  • 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 Tyrosine Kinase, Receptor, Type 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 PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include protein homodimerization activity and ephrin receptor binding. 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, PI 3-K and PLCgamma signaling pathways. There are four members of the Trk family; TrkA, TrkB and TrkC and a related p75NTR receptor. p75NTR lacks tyrosine kinase activity and signals via NF-kappaB activation. Each family member binds different neurotrophins with varying affinities. TrkA potently binds nerve growth factor (NGF) and is involved in differentiation and survival of neurons and in control of gene expression of enzymes involved in neurotransmitter synthesis. TrkB has highest affinity for brain-derived neurotrophic factor (BDNF) and is involved in neuronal plasticity, longterm potentiation and apoptosis of CNS neurons. TrkC is activated by neurotrophin-3 (NT-3) and is found on proprioceptive sensory neurons. p75NTR binds neurotrophin precursors with high affinity and retains low affinity to the mature cleaved forms. TrkA was originally identified as an oncogene as it is commonly mutated in cancers, particularly colon and thyroid carcinomas.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NTRK1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn67, Asn95, Asn121, Asn188, Asn202, Asn253, Asn262, Asn281, Asn318, Asn323, Asn338, Asn358, and Asn401
  • Modification sites at PhosphoSitePlus

Other Protein References for NTRK1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NTRK1 (TrkA)

Protein Products

Domains for NTRK1 Gene

Gene Families for NTRK1 Gene

HGNC:
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
IUPHAR :

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 :
  • P04629
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:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IDA 15488758
GO:0005030 neurotrophin receptor activity --
GO:0005166 neurotrophin p75 receptor binding IEA --
genes like me logo Genes that share ontologies with NTRK1: view
genes like me logo Genes that share phenotypes with NTRK1: view

Animal Models for NTRK1 Gene

MGI Knock Outs for NTRK1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NTRK1

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting 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
endosome 5
nucleus 5
plasma membrane 5
cytosol 1
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NTRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005768 endosome TAS --
GO:0005769 early endosome ISS --
GO:0005770 late endosome ISS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with NTRK1: view

Pathways for NTRK1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Alzheimers Disease in human,mouse,rat
    • Apoptosis 384HT in human,mouse,rat
    • Neurotrophins & Receptors in human,mouse,rat
    • Obesity in human,mouse,rat

Gene Ontology (GO) - Biological Process for NTRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity TAS --
GO:0006468 protein phosphorylation IDA 15488758
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS --
GO:0007190 activation of adenylate cyclase activity TAS --
GO:0007202 activation of phospholipase C activity TAS --
genes like me logo Genes that share ontologies with NTRK1: view

Compounds for NTRK1 Gene

(5) Tocris Compounds for NTRK1 Gene

Compound Action Cas Number
7,8-Dihydroxyflavone TrkB agonist [38183-03-8]
ANA 12 TrkB receptor antagonist [219766-25-3]
BDNF (human) Activates TrkB and p75 receptors [218441-99-7]
GNF 5837 Potent Trk inhibitor; inhibits TrkA, TrkB and TrkC [1033769-28-6]
LM 22A4 Potent TrkB agonist [37988-18-4]

(2) HMDB Compounds for NTRK1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(3) Drugbank Compounds for NTRK1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amitriptyline
  • Amitriprolidine
50-48-6 target agonist
Imatinib
  • CGP-57148B
152459-95-5 target antagonist
Regorafenib
755037-03-7 target inhibitor

(74) Novoseek inferred chemical compound relationships for NTRK1 Gene

Compound -log(P) Hits PubMed IDs
cipa 89.1 48
k252a 88.5 44
tyrosine 86.4 150
ag 879 74.7 4
asp-glu 68.3 3

(1) PharmGKB related drug/compound annotations for NTRK1 Gene

Drug/compound Annotation
aspirin CA
genes like me logo Genes that share compounds with NTRK1: view

Transcripts for NTRK1 Gene

Unigene Clusters for NTRK1 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NTRK1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NTRK1

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 expressions with NTRK1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein expression 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 35
  • 90.55 (n)
  • 93.1 (a)
NTRK1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NTRK1 35
  • 89.67 (n)
  • 92.32 (a)
NTRK1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ntrk1 35
  • 85.47 (n)
  • 87.28 (a)
Ntrk1 16
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 35
  • 58.33 (n)
  • 54.43 (a)
ntrk1 36
  • 53 (a)
OneToOne
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 MAF
rs6333 -- 156,874,870(+) AGGAG(A/C/G)AGCCC intron-variant
rs6334 -- 156,876,441(+) TTCCA(A/G)CGTGA synonymous-codon, reference
rs6335 -- 156,876,495(+) TTCTT(C/T)GGCGT reference, synonymous-codon
rs6336 Pathogenic, - 156,879,126(+) GATCC(C/T)ATGGA reference, missense
rs6337 Benign 156,879,203(+) CTGGC(C/T)GTGGC reference, synonymous-codon

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

Relevant External Links for NTRK1 Gene

HapMap Linkage Disequilibrium report
NTRK1
Human Gene Mutation Database (HGMD)
NTRK1
Locus Specific Mutation Databases (LSDB)
NTRK1

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

Disorders for NTRK1 Gene

(2) OMIM Diseases for NTRK1 Gene (191315)

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.
  • Thyroid papillary carcinoma (TPC) [MIM:188550]: A common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=The gene represented in this entry is involved in disease pathogenesis. Chromosomal aberrations involving NTRK1 are found in thyroid papillary carcinomas. Translocation t(1;3)(q21;q11) with TFG generates the TRKT3 (TRK-T3) transcript by fusing TFG to the 3-end of NTRK1; a rearrangement with TPM3 generates the TRK transcript by fusing TPM3 to the 3-end of NTRK1; 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.

(4) University of Copenhagen DISEASES for NTRK1 Gene

(95) Novoseek inferred disease relationships for NTRK1 Gene

Disease -log(P) Hits PubMed IDs
anhidrosis 85.6 31
hsan iv 83.3 6
thyroid papillary carcinoma 73 35
sensory neuropathy hereditary 64.3 3
ganglioneuroma 58.8 7

Relevant External Links for NTRK1

GeneTests
NTRK1
GeneReviews
NTRK1
Genetic Association Database (GAD)
NTRK1
Human Genome Epidemiology (HuGE) Navigator
NTRK1
genes like me logo Genes that share disorders with NTRK1: view

Publications for NTRK1 Gene

  1. TRK-T1 is a novel oncogene formed by the fusion of TPR and TRK genes in human papillary thyroid carcinomas. (PMID: 1532241) Greco A. … Della Porta G. (Oncogene 1992) 3 4 23
  2. The DNA rearrangement that generates the TRK-T3 oncogene involves a novel gene on chromosome 3 whose product has a potential coiled-coil domain. (PMID: 7565764) Greco A. … Pierotti M.A. (Mol. Cell. Biol. 1995) 3 4 23
  3. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. (PMID: 8696348) Indo Y. … Matsuda I. (Nat. Genet. 1996) 3 4 23
  4. Trk receptors use redundant signal transduction pathways involving SHC and PLC-gamma 1 to mediate NGF responses. (PMID: 8155326) Stephens R.M. … Kaplan D.R. (Neuron 1994) 3 4 23
  5. Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor. (PMID: 9290260) Indo Y. … Matsuda I. (Jpn. J. Hum. Genet. 1997) 3 4 23

Products for NTRK1 Gene

  • Addgene plasmids for NTRK1

Sources for NTRK1 Gene

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