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    NTRK1 neurotrophic receptor tyrosine kinase 1 [ Homo sapiens (human) ]

    Gene ID: 4914, updated on 22-Jan-2024

    Summary

    Official Symbol
    NTRK1provided by HGNC
    Official Full Name
    neurotrophic receptor tyrosine kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:8031
    See related
    Ensembl:ENSG00000198400 MIM:191315; AllianceGenome:HGNC:8031
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTC; TRK; TRK1; TRKA; Trk-A; p140-TrkA
    Summary
    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]
    Expression
    Biased expression in adrenal (RPKM 3.7), testis (RPKM 1.0) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NTRK1 in Genome Data Viewer
    Location:
    1q23.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156815750..156881850)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155952603..156018667)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156785542..156851642)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:156711011-156711988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1878 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156717051-156717748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156717749-156718446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156718447-156719143 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156721068-156721842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156729657-156730190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156730191-156730723 Neighboring gene mitochondrial ribosomal protein L24 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156736100-156736726 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:156736727-156737352 Neighboring gene heparin binding growth factor Neighboring gene Sharpr-MPRA regulatory region 3718 Neighboring gene proline rich mitotic checkpoint control factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156774267-156774768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156778787-156779288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156783176-156783722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1438 Neighboring gene SH2 domain containing 2A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156808560-156809060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156811133-156811814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156811815-156812494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156814249-156814884 Neighboring gene Sharpr-MPRA regulatory region 5756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156830955-156831498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156836581-156837238 Neighboring gene insulin receptor related receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156844837-156845734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156862813-156863317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:156865761-156866960 Neighboring gene platelet endothelial aggregation receptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1441 Neighboring gene leucine rich repeat containing 71 Neighboring gene Rho guanine nucleotide exchange factor 11 Neighboring gene microRNA 765

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in NTRK1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 Env (gp120) exposure downregulates TrkA, TrkB, and TrkC mRNA levels in dorsal root ganglion neurons PubMed
    Vpr vpr Treatment of cultured dorsal root ganglion sensory neurons with HIV-1 Vpr downregulates expression of TrKA and pGSK3beta/GSK3beta proteins and pre-treatment with NGF inhibits this Vpr-induced downregulation of TrKA and pGSK3beta/GSK3beta PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781I14186

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GPI-linked ephrin receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nerve growth factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nerve growth factor receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nerve growth factor receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables neurotrophin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables neurotrophin p75 receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables neurotrophin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transmembrane receptor protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Sertoli cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axonogenesis involved in innervation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in behavioral response to formalin induced pain IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in cellular response to amyloid-beta IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to nerve growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to nerve growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to nerve growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of mechanical stimulus involved in sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of temperature stimulus involved in sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ephrin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mechanoreceptor differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nerve growth factor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nerve growth factor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurotrophin TRK receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in olfactory nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in positive regulation of ERK1 and ERK2 cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of programmed cell death ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in programmed cell death involved in cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hydrostatic pressure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sympathetic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in late endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    high affinity nerve growth factor receptor
    Names
    Oncogene TRK
    TRK1-transforming tyrosine kinase protein
    gp140trk
    neurotrophic tyrosine kinase, receptor, type 1
    tropomyosin receptor kinase A
    tropomyosin-related kinase A
    tyrosine kinase receptor A
    NP_001007793.1
    NP_001012331.1
    NP_002520.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007493.1 RefSeqGene

      Range
      5001..71101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_261

    mRNA and Protein(s)

    1. NM_001007792.1NP_001007793.1  high affinity nerve growth factor receptor isoform 3

      See identical proteins and their annotated locations for NP_001007793.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) utilizes alternate 5' exons and lacks an internal in-frame exon, compared to variant 2. Translation initiation occurs at an upstream AUG, resulting in a shorter isoform (3) with a unique N-terminus compared to isoform 2.
      Source sequence(s)
      AL158169, BC062580
      UniProtKB/TrEMBL
      A0A6Q8PHG5
      Related
      ENSP00000376120.3, ENST00000392302.7
      Conserved Domains (7) summary
      cd04971
      Location:269349
      Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd04972
      Location:165252
      Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd05092
      Location:468747
      PTKc_TrkA; Catalytic domain of the Protein Tyrosine Kinase, Tropomyosin Related Kinase A
      sd00031
      Location:6386
      LRR_1; leucine-rich repeat [structural motif]
      pfam07714
      Location:474745
      Pkinase_Tyr; Protein tyrosine kinase
      pfam13855
      Location:62120
      LRR_8; Leucine rich repeat
      pfam16920
      Location:121162
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
    2. NM_001012331.2NP_001012331.1  high affinity nerve growth factor receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_001012331.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an internal, in-frame exon, compared to variant 2, resulting in a shorter isoform (1) lacking an internal segment compared to isoform 2.
      Source sequence(s)
      AL158169, BC062580, BM685020, M23102
      Consensus CDS
      CCDS30891.1
      UniProtKB/TrEMBL
      J3KP20, X5DR71
      Related
      ENSP00000357179.3, ENST00000368196.7
      Conserved Domains (7) summary
      cd04971
      Location:299379
      Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd04972
      Location:195282
      Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd05092
      Location:498777
      PTKc_TrkA; Catalytic domain of the Protein Tyrosine Kinase, Tropomyosin Related Kinase A
      sd00031
      Location:6892
      LRR_1; leucine-rich repeat [structural motif]
      pfam07714
      Location:504775
      Pkinase_Tyr; Protein tyrosine kinase
      pfam13855
      Location:92150
      LRR_8; Leucine rich repeat
      pfam16920
      Location:151192
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
    3. NM_002529.4NP_002520.2  high affinity nerve growth factor receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_002520.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AL158169, BC062580, M23102, X06704
      Consensus CDS
      CCDS1161.1
      UniProtKB/Swiss-Prot
      B2R6T5, B7ZM34, P04629, P08119, Q15655, Q15656, Q5D056, Q5VZS2, Q7Z5C3, Q9UIU7
      UniProtKB/TrEMBL
      J3KP20
      Related
      ENSP00000431418.1, ENST00000524377.7
      Conserved Domains (7) summary
      cd04971
      Location:299379
      Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd04972
      Location:195282
      Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd05092
      Location:504783
      PTKc_TrkA; Catalytic domain of the Protein Tyrosine Kinase, Tropomyosin Related Kinase A
      sd00031
      Location:6892
      LRR_1; leucine-rich repeat [structural motif]
      pfam07714
      Location:510781
      Pkinase_Tyr; Protein tyrosine kinase
      pfam13855
      Location:92150
      LRR_8; Leucine rich repeat
      pfam16920
      Location:151192
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      156815750..156881850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      155952603..156018667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)