NTRK1

NTRK1

A gene on chromosome 1q21-q22 that encodes neurotrophic tyrosine kinase receptor type 1 (TrkA) which, after neurotrophin binding, phosphorylates itself (autophosphorylates) and members of the MAPK pathway. 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. It is involved in cell differentiation and may play a role in specifying sensory neuron subtypes.

Molecular pathology
NTRK1 mutations are associated with congenital insensitivity to pain with anhidrosis, self-mutilating behaviour, mental retardation and cancer.
References in periodicals archive ?
According to the company, the 17 fusions include ALK, AXL, BRAF, CCND1, FGFR1, FGFR2, FGFR3, MET, NGR1, NTRK1, NTRK2, NTRK3, PPARG, RAF1, RET, ROS1 as well as THADA.
Rearrangements of the NTRK1 gene occur in <5% of papillary thyroid carcinomas.
Age-related activation of the tyrosine kinase receptor protooncogenes RET and NTRK1 in papillary thyroid carcinoma.
Esta enfermedad se puede generar por herencia genetica o por radiacion, y se ven afectados genes como: RET, BRAF, RAS, EIF1AX, PPM1D y CHEK2 y translocaciones que afectan PPARg, NTRK1, NTRK3, THADA y FGFR2, ademas de alteraciones moleculares como cadherina epitelial, molecula neural de adhesion celular (N-CAM), p-catenina, p53 y p63 [1,3].
In this condition genetic mutation occurs at NTRK1 gene which is inherited as autosomal recessive disorder.
Ignyta and the European Organisation for Research and Treatment of Cancer (EORTC) declared that they will partner through EORTCs Screening Patients for Efficient Clinical Trial Access (SPECTA) biomarker screening move to recognize patients who harbor a gene rearrangement to NTRK1, NTRK3, ROS1 or ALK and therefore may be competent for Ignytas global STARTRK-2 Phase 2 clinical study.
Such efforts have already resulted in the identification of fusions for FGFR1, FGFR2, and FGFR3 (33,34) as well as for ROS1, (35,36) RET, (36) and NTRK1, (37) with clinical trials also having been initiated with corresponding inhibitors.
Among them, GO:0004888 dominantly contains 33 transcripts encoding signal receptors, and these receptors could be further classified into several subgroups: OXTR, LOC431251 and SSTR3 belong to reproductive hormone receptors; CHRM2, ADRA2B, P2RX4, P2RY2, EDNRB2, GABRB2, GABRG2, LOC428961 and NPFFR2 function as receptors mediating neurotransmitters or neuropeptide; GRIN2B and GRIN3A could modulate the efficiency of synaptic transmission; NTRK1 and NTRK2 belong to the receptor tyrosine kinase (RTK) family, and are involved with neurotrophin (GO:0005030--neurotrophin receptor activity; and GO:0043121--neurotrophin binding) (Table 5).
Expression of nerve growth factor and its receptors NTRK1 and TNFRSF1B is regulated by estrogen and progesterone in the uteri of golden hamsters.
Alternative mutations of BRAF, RET and NTRK1 are associated with similar but distinct gene expression patterns in papillary thyroid cancer.
Recently, Wiesner et al (54) studied spitzoid lesions, including Spitz nevi, ASTs, and spitzoid melanoma, with targeted DNA and transcriptome sequencing, and they identified that approximately 50% of cases harbor kinase fusions involving the kinases ROS1, ALK, NTRK1, BRAF, or RET.
81) The most common mutations in papillary thyroid cancer (PTC) are point mutations of the BRAF and RAS genes and rearrangements of RET/PTC, NTRK1, and NTRK3 (a recent discovery), all of which are able to activate the mitogen-activated protein kinase (MAPK) pathway.