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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes FDA approved drug targets Human disease related genes RAS pathway related proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
q23.1
Chromosome location (bp)
156815636 - 156881850
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1,2,3,4,5,6,7,8. 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 (By similarity). Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation 9. 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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Differentiation, Neurogenesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cancers of endocrine organs Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000166[nucleotide binding] GO:0001934[positive regulation of protein phosphorylation] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005030[neurotrophin receptor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005768[endosome] GO:0005769[early endosome] GO:0005770[late endosome] GO:0005886[plasma membrane] GO:0005887[integral component of plasma membrane] GO:0006468[protein phosphorylation] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007399[nervous system development] GO:0008285[negative regulation of cell population proliferation] GO:0010008[endosome membrane] GO:0010465[nerve growth factor receptor activity] GO:0010623[programmed cell death involved in cell development] GO:0010976[positive regulation of neuron projection development] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0030154[cell differentiation] GO:0030424[axon] GO:0031175[neuron projection development] GO:0031901[early endosome membrane] GO:0031902[late endosome membrane] GO:0032991[protein-containing complex] GO:0033674[positive regulation of kinase activity] GO:0038083[peptidyl-tyrosine autophosphorylation] GO:0038179[neurotrophin signaling pathway] GO:0038180[nerve growth factor signaling pathway] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043066[negative regulation of apoptotic process] GO:0043068[positive regulation of programmed cell death] GO:0043121[neurotrophin binding] GO:0043235[receptor complex] GO:0043524[negative regulation of neuron apoptotic process] GO:0043547[positive regulation of GTPase activity] GO:0046579[positive regulation of Ras protein signal transduction] GO:0046777[protein autophosphorylation] GO:0048011[neurotrophin TRK receptor signaling pathway] GO:0048013[ephrin receptor signaling pathway] GO:0048406[nerve growth factor binding] GO:0048485[sympathetic nervous system development] GO:0048666[neuron development] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051896[regulation of protein kinase B signaling] GO:0055038[recycling endosome membrane] GO:0060385[axonogenesis involved in innervation] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:1990090[cellular response to nerve growth factor stimulus]
P04629 [Direct mapping] High affinity nerve growth factor receptor
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Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cancers of endocrine organs Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000166[nucleotide binding] GO:0001934[positive regulation of protein phosphorylation] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005004[GPI-linked ephrin receptor activity] GO:0005030[neurotrophin receptor activity] GO:0005166[neurotrophin p75 receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005770[late endosome] GO:0005886[plasma membrane] GO:0005887[integral component of plasma membrane] GO:0006468[protein phosphorylation] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007399[nervous system development] GO:0007411[axon guidance] GO:0007568[aging] GO:0007611[learning or memory] GO:0007623[circadian rhythm] GO:0008285[negative regulation of cell population proliferation] GO:0009314[response to radiation] GO:0009410[response to xenobiotic stimulus] GO:0009986[cell surface] GO:0010008[endosome membrane] GO:0010465[nerve growth factor receptor activity] GO:0010623[programmed cell death involved in cell development] GO:0010976[positive regulation of neuron projection development] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019233[sensory perception of pain] GO:0019900[kinase binding] GO:0021553[olfactory nerve development] GO:0030154[cell differentiation] GO:0030183[B cell differentiation] GO:0030424[axon] GO:0030425[dendrite] GO:0031410[cytoplasmic vesicle] GO:0031667[response to nutrient levels] GO:0031901[early endosome membrane] GO:0031902[late endosome membrane] GO:0032991[protein-containing complex] GO:0033674[positive regulation of kinase activity] GO:0035094[response to nicotine] GO:0038083[peptidyl-tyrosine autophosphorylation] GO:0038180[nerve growth factor signaling pathway] GO:0042490[mechanoreceptor differentiation] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043025[neuronal cell body] GO:0043066[negative regulation of apoptotic process] GO:0043068[positive regulation of programmed cell death] GO:0043121[neurotrophin binding] GO:0043235[receptor complex] GO:0043524[negative regulation of neuron apoptotic process] GO:0043547[positive regulation of GTPase activity] GO:0046579[positive regulation of Ras protein signal transduction] GO:0046777[protein autophosphorylation] GO:0048011[neurotrophin TRK receptor signaling pathway] GO:0048013[ephrin receptor signaling pathway] GO:0048406[nerve growth factor binding] GO:0048485[sympathetic nervous system development] GO:0048678[response to axon injury] GO:0050965[detection of temperature stimulus involved in sensory perception of pain] GO:0050966[detection of mechanical stimulus involved in sensory perception of pain] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051402[neuron apoptotic process] GO:0051599[response to hydrostatic pressure] GO:0051602[response to electrical stimulus] GO:0051896[regulation of protein kinase B signaling] GO:0051965[positive regulation of synapse assembly] GO:0051968[positive regulation of synaptic transmission, glutamatergic] GO:0055037[recycling endosome] GO:0055038[recycling endosome membrane] GO:0060009[Sertoli cell development] GO:0060384[innervation] GO:0060385[axonogenesis involved in innervation] GO:0061368[behavioral response to formalin induced pain] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071316[cellular response to nicotine] GO:0071363[cellular response to growth factor stimulus] GO:1901215[negative regulation of neuron death] GO:1990090[cellular response to nerve growth factor stimulus]
A0A6Q8PF65 [Direct mapping] High affinity nerve growth factor receptor
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THUMBUP predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Predicted intracellular proteins RAS pathway related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cancers of endocrine organs Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
