P01138A1A4E5Q6FHA0Q96P60Q9P2Q8Q9UKL8NGF_HUMANBeta-nerve growth factorBeta-NGFNGFNGFBHomo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoHuman beta-nerve growth factor gene sequence highly homologous to that of mouse.NUCLEOTIDE SEQUENCE [GENOMIC DNA]VARIANT VAL-35Sequence homology of human and mouse beta-NGF subunit genes.NUCLEOTIDE SEQUENCE [GENOMIC DNA]VARIANT VAL-35cDNA sequence of human beta-NGF.NUCLEOTIDE SEQUENCE [MRNA]VARIANT VAL-35Cloning and sequencing of the gene for premature beta nerve growth factor.NUCLEOTIDE SEQUENCE [GENOMIC DNA]Human-specific amino acid changes found in 103 protein-coding genes.NUCLEOTIDE SEQUENCE [GENOMIC DNA]VARIANT VAL-35NUCLEOTIDE SEQUENCE [MRNA]Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]Cloning of human full-length CDSs in BD Creator(TM) system donor vector.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]The DNA sequence and biological annotation of human chromosome 1.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]VARIANT VAL-35The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]VARIANT VAL-35Evolutionary studies of the nerve growth factor family reveal a novel member abundantly expressed in Xenopus ovary.NUCLEOTIDE SEQUENCE [MRNA] OF 178-219The trk proto-oncogene encodes a receptor for nerve growth factor.IDENTIFICATION OF NTRK1 AS THE HIGH AFFINITY NGF RECEPTORNerve growth factor inhibits metalloproteinase-disintegrins and blocks ectodomain shedding of platelet glycoprotein VI.FUNCTIONINTERACTION WITH ADAM10Crystal structure of nerve growth factor in complex with the ligand-binding domain of the TrkA receptor.X-RAY CRYSTALLOGRAPHY (2.20 ANGSTROMS) OF 122-241 IN COMPLEX WITH NTRK1FUNCTIONSUBUNITDISULFIDE BONDSStructure of nerve growth factor complexed with the shared neurotrophin receptor p75.X-RAY CRYSTALLOGRAPHY (2.40 ANGSTROMS) OF 122-241 IN COMPLEX WITH NGFRFUNCTIONSUBUNITDISULFIDE BONDSStructural and mechanistic insights into nerve growth factor interactions with the TrkA and p75 receptors.X-RAY CRYSTALLOGRAPHY (3.40 ANGSTROMS) OF 122-241 IN COMPLEX WITH NTRK1SUBUNITDISULFIDE BONDSCharacterization of single-nucleotide polymorphisms in coding regions of human genes.VARIANT VAL-35ERRATUM OF PUBMED:10391209A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.VARIANT HSAN5 TRP-221FUNCTIONA novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.CHARACTERIZATION OF VARIANT HSAN5 TRP-221FUNCTIONSUBCELLULAR LOCATIONFrequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.VARIANT HSAN5 GLY-GLU-162 INSVARIANT ASN-187Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems (PubMed:14976160, PubMed:20978020). Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades to regulate neuronal proliferation, differentiation and survival (PubMed:20978020) (Probable). The immature NGF precursor (proNGF) functions as a ligand for the heterodimeric receptor formed by SORCS2 and NGFR, and activates cellular signaling cascades that lead to inactivation of RAC1 and/or RAC2, reorganization of the actin cytoskeleton and neuronal growth cone collapse. In contrast to mature NGF, the precursor form (proNGF) promotes neuronal apoptosis (in vitro) (By similarity). Inhibits metalloproteinase-dependent proteolysis of platelet glycoprotein VI (PubMed:20164177). Binds lysophosphatidylinositol and lysophosphatidylserine between the two chains of the homodimer. The lipid-bound form promotes histamine relase from mast cells, contrary to the lipid-free form (By similarity).Homodimer (PubMed:10490030, PubMed:15131306, PubMed:17196528). The homodimer interacts with a single NTRK1 chain (PubMed:10490030, PubMed:17196528). The homodimer interacts with a single NGFR chain (PubMed:15131306). The NGF dimer interacts with a single SORCS2 chain (via extracellular domain) (By similarity). The NGF precursor (proNGF) binds to a receptor complex formed by SORT1 and NGFR, which leads to NGF endocytosis. Both mature NGF and the immature NGF precursor (proNGF) interact with SORCS2 and with the heterodimer formed by SORCS2 and NGFR (via extracellular domains) (By similarity). The NGF precursor (proNGF) has much higher affinity for SORCS2 than mature NGF. The NGF precursor (proNGF) has much higher affinity for SORT1 than mature NGF (By similarity). Interacts with ADAM10 in a divalent cation-dependent manner (PubMed:20164177).P01138P05067false9P01138P20042false3P01138P08138false2P01138P04629false3P01138Q99523false5P01138P07174true3PRO_0000019599Q99523false2PRO_0000019600P08138false2PRO_0000019600P04629false2SecretedEndosome lumenProNGF is endocytosed after binding to the cell surface receptor formed by SORT1 and NGFR.Neuropathy, hereditary sensory and autonomic, 5
HSAN5
A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN5 patients manifest loss of pain perception and impaired temperature sensitivity, ulcers, and in some cases self-mutilation. The autonomic involvement is variable.The disease is caused by variants affecting the gene represented in this entry.Belongs to the NGF-beta family.Extended N-terminus.Nerve growth factor entry3D-structureCleavage on pair of basic residuesDisease variantDisulfide bondEndosomeGlycoproteinGrowth factorLipid-bindingMetalloenzyme inhibitorMetalloprotease inhibitorNeurodegenerationNeuropathyProtease inhibitorReference proteomeSecretedSignala 1-acyl-sn-glycero-3-phospho-(1D-myo-inositol)ligand shared between dimeric partnersa 1-acyl-sn-glycero-3-phospho-(1D-myo-inositol)ligand shared between dimeric partnersa 1-acyl-sn-glycero-3-phospho-L-serineligand shared between dimeric partnersAVVMRQEEGESNRWNSVMMSMLFYTLITAFLIGIQAEPHSESNVPAGHTIPQAHWTKLQHSLDTALRRARSAPAAAIAARVAGQTRNITVDPRLFKKRRLRSPRVLFSTQPPREAADTQDLDFEVGGAAPFNRTHRSKRSSSHPIFHRGEFSVCDSVSVWVGDKTTATDIKGKEVMVLGEVNINNSVFKQYFFETKCRDPNPVDSGCRGIDSKHWNSYCTTTHTFVKALTMDGKQAAWRFIRIDTACVCVLSRKAVRRA
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