Neurotrophic Tyrosine Kinase, Receptor, Type 1

Alternative Names

  • NTRK1
  • Tyrosine Kinase Receptor
  • TRK
  • Tyrosine Kinase Receptor A
  • TRKA
  • TRK Oncogene
  • NTRK1/TPM3 Fusion Gene
  • NTRK1/TFG Fusion Gene
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OMIM Number

191315

NCBI Gene ID

4914

Uniprot ID

P04629

Length

66,211 bases

No. of Exons

19

No. of isoforms

4

Protein Name

High affinity nerve growth factor receptor

Molecular Mass

87497 Da

Amino Acid Count

796

Genomic Location

chr1:156,815,640-156,881,850

Gene Map Locus
1q23.1

Description

Nerve growth factor supports the survival of sympathetic ganglion neurons and nociceptive sensory neurons in dorsal root ganglia derived from the neural crest and ascending cholinergic neurons of the basal forebrain. Mutations in the tyrosine kinase receptor A gene, described recently in patients with congenital insensitivity to pain with anhidrosis, correlate well with the defective development of the nociceptive neurons. Human tyrosine kinase receptor A is a receptor tyrosine kinase which is phosphorylated in response to nerve growth factor. The binding of the nerve growth factor to tyrosine kinase receptor A stimulates homodimer formation and activation of tyrosine kinase activity. Phosphorylated tyrosine residues in tyrosine kinase receptor A cytoplasmic domain serve as anchors for binding downstream signaling molecules.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002529.3:c.2205+1G>ALebanonchr1:156880158PathogenicInsensitivity to Pain, Congenital, with AnhidrosisNG_007493.1:g.69409G>A; NM_002529.3:c.2205+1G>A755816069
NM_002529.4:c.253C>AUnited Arab EmiratesNC_000001.11:g.156864394C>ALikely Pathogenic, Uncertain SignificanceLikely BenignInsensitivity to Pain, Congenital, with AnhidrosisNG_007493.1:g.53645C>A; NM_002529.4:c.253C>A; NP_002520.2:p.Arg85Ser543320028584593
NM_002529.4:c.284delKuwaitNC_000001.11:g.156864425delPathogenicInsensitivity to Pain, Congenital, with AnhidrosisNG_007493.1:g.53676del; NM_002529.4:c.284del; NP_002520.2:p.Asn95ThrfsTer5
NM_002529.4:c.429-1G>CUnited Arab EmiratesNC_000001.11:g.156868103G>CPathogenic, Uncertain SignificancePathogenicInsensitivity to Pain, Congenital, with AnhidrosisNG_007493.1:g.57354G>C; NM_002529.4:c.429-1G>C748672380637475
NM_002529.4:c.850+1G>AKuwaitNC_000001.11:g.156871756G>APathogenicPathogenicInsensitivity to Pain, Congenital, with AnhidrosisNG_007493.1:g.61007G>A; NM_002529.4:c.850+1G>A16475698951457786
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