Human Gene NTRK1 (ENST00000368196.7) from GENCODE V44
  Description: Homo sapiens neurotrophic receptor tyrosine kinase 1 (NTRK1), transcript variant 1, mRNA. (from RefSeq NM_001012331)
RefSeq Summary (NM_001012331): 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].
Gencode Transcript: ENST00000368196.7
Gencode Gene: ENSG00000198400.14
Transcript (Including UTRs)
   Position: hg38 chr1:156,860,815-156,881,850 Size: 21,036 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr1:156,860,935-156,881,642 Size: 20,708 Coding Exon Count: 16 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:156,860,815-156,881,850)mRNA (may differ from genome)Protein (790 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGImyGene2OMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NTRK1
Diseases sorted by gene-association score: insensitivity to pain, congenital, with anhidrosis* (1670), medullary thyroid carcinoma, familial* (618), differentiated thyroid carcinoma* (202), ntrk1-related familial medullary thyroid carcinoma* (100), anhidrosis (71), autonomic neuropathy (22), ganglioneuroblastoma (21), sweat gland disease (18), ganglioneuroma (18), olfactory neuroblastoma (16), neuropathy, hereditary sensory and autonomic, type v* (14), askin's tumor (13), familial papillary thyroid carcinoma (13), thyroid cancer, nonmedullary, 1 (12), thyroid cancer (11), insensitivity to pain, congenital (11), conjunctival nevus (8), autonomic nervous system neoplasm (8), lethal congenital contractural syndrome 2 (7), diabetic neuropathy (7), dysautonomia (7), pyruvate kinase deficiency (7), prolactin producing pituitary tumor (7), neuroaxonal dystrophy (7), peripheral nervous system neoplasm (7), ocular cicatricial pemphigoid (5), cerebral cavernous malformations-2 (5), charcot-marie-tooth disease, type 2b (5), spinocerebellar ataxia 10 (5), medulloblastoma (4), chagas disease (3), pheochromocytoma (3), neuroblastoma (2), nervous system cancer (1), amyotrophic lateral sclerosis 1 (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D014212 Tretinoin
  • D002211 Capsaicin
  • C014024 2,4,5,2',4',5'-hexachlorobiphenyl
  • C016403 2,4-dinitrotoluene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • C023035 3,4,5,3',4'-pentachlorobiphenyl
  • C545373 AP24534
  • D000643 Ammonium Chloride
  • D002713 Chlorine
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.44 RPKM in Prostate
Total median expression: 28.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -63.40120-0.528 Picture PostScript Text
3' UTR -79.30208-0.381 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  AK126428 - Homo sapiens cDNA FLJ44464 fis, clone UTERU2025025, highly similar to High affinity nerve growth factor receptor precursor (EC 2.7.1.112).
CR936794 - Homo sapiens mRNA; cDNA DKFZp781I14186 (from clone DKFZp781I14186).
M23102 - Human trk proto-oncogene insert of pLM6.
BC144239 - Homo sapiens neurotrophic tyrosine kinase, receptor, type 1, mRNA (cDNA clone MGC:177776 IMAGE:9052759), complete cds.
BC136554 - Homo sapiens neurotrophic tyrosine kinase, receptor, type 1, mRNA (cDNA clone MGC:168167 IMAGE:9020544), complete cds.
AK312704 - Homo sapiens cDNA, FLJ93103, Homo sapiens neurotrophic tyrosine kinase, receptor, type 1(NTRK1), mRNA.
AK290759 - Homo sapiens cDNA FLJ75372 complete cds, highly similar to Human trk proto-oncogene insert of pLM6.
KJ534902 - Homo sapiens clone NTRK1_iso-A_adult-A14 neurotrophic tyrosine kinase receptor type 1 isoform A (NTRK1) mRNA, partial cds, alternatively spliced.
KJ534903 - Homo sapiens clone NTRK1_iso-B_fetal-F12 neurotrophic tyrosine kinase receptor type 1 isoform B (NTRK1) mRNA, partial cds, alternatively spliced.
BC062580 - Homo sapiens neurotrophic tyrosine kinase, receptor, type 1, mRNA (cDNA clone IMAGE:5200930), partial cds.
KF724385 - Homo sapiens MHC class II invariant chain/neurotrophic tyrosine kinase receptor type 1 fusion protein (CD74-NTRK1 fusion) mRNA, complete cds.
X85960 - H.sapiens TRK-T3 oncogene.
X03541 - Human mRNA of trk oncogene.
X06704 - Human mRNA for trk-2h oncogene.
M55337 - Human oncogene tyrosine protein kinase receptor (trk4) mRNA, partial cds.
M55336 - Homo sapiens oncogene tyrosine protein kinase receptor (trk2) mRNA, partial cds.
X62947 - H.sapiens mRNA (TRK-T1) for 55 KD protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04144 - Endocytosis
hsa04210 - Apoptosis
hsa04722 - Neurotrophin signaling pathway
hsa05200 - Pathways in cancer
hsa05216 - Thyroid cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_erk5Pathway - Role of Erk5 in Neuronal Survival
h_actinYPathway - Y branching of actin filaments
h_trkaPathway - Trka Receptor Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000368196.1, ENST00000368196.2, ENST00000368196.3, ENST00000368196.4, ENST00000368196.5, ENST00000368196.6, NM_001012331, uc001fqi.1, uc001fqi.2, X5DR71
UCSC ID: ENST00000368196.7
RefSeq Accession: NM_001012331
CCDS: CCDS1161.1, CCDS30891.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NTRK1:
cip-overview (Congenital Insensitivity to Pain Overview)
hsan4 (NTRK1 Congenital Insensitivity to Pain with Anhidrosis)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.