{ "uniprot_canonical_ac": "P10912-1", "uniprot_ac": "P10912", "uniprot_id": "GHR_HUMAN", "mass": { "chemical_mass": 71500.0, "monoisotopic_mass": 71500.0 }, "refseq": { "ac": "NP_000154", "name": "growth hormone receptor isoform 1 precursor", "summary": "This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154" }, "gene_names": [ { "name": "GHR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10912", "id": "P10912" }, { "name": "GHBP; GHIP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154", "id": "NP_000154" }, { "name": "GHR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154", "id": "NP_000154" } ], "protein_names": [ { "name": "Growth hormone receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10912" }, { "name": "GH receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10912" }, { "name": "Serum-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10912" }, { "name": "Somatotropin receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10912" }, { "name": "growth hormone binding protein; somatotropin receptor; serum binding protein; GH receptor; mutant growth hormone receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154", "id": "NP_000154" }, { "name": "growth hormone receptor isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154", "id": "NP_000154" } ], "function": [ { "annotation": "Associations of GHR, IGF-1 and IGFBP-3 expression in adipose tissue cells with obesity-related alterations in corresponding circulating levels and adipose tissue function in children.", "evidence": [ { "database": "RefSeq", "id": "NP_000154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154" }, { "database": "PubMed", "id": "36384443", "url": "https://glygen.org/publication/PubMed/36384443" } ] }, { "annotation": "Conditional gene regulation models demonstrate a pro-proliferative role for growth hormone receptor in prostate cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154" }, { "database": "PubMed", "id": "36562110", "url": "https://glygen.org/publication/PubMed/36562110" } ] }, { "annotation": "Correlation Study between Levels of Gastrin, Serum IGF-1, and GHBP and Growth and Development in Children with Short Stature Based on Big Data Analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154" }, { "database": "PubMed", "id": "36061351", "url": "https://glygen.org/publication/PubMed/36061351" } ] }, { "annotation": "Expression of IGF-1 receptor and GH receptor in hepatic tissue of patients with nonalcoholic fatty liver disease and nonalcoholic steatohepatitis.", "evidence": [ { "database": "RefSeq", "id": "NP_000154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154" }, { "database": "PubMed", "id": "35780715", "url": "https://glygen.org/publication/PubMed/35780715" } ] }, { "annotation": "Genetic effect of single nucleotide polymorphisms in growth hormone receptor gene on the risk of non-syndromic mandibular prognathism in the Korean population.", "evidence": [ { "database": "RefSeq", "id": "NP_000154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154" }, { "database": "PubMed", "id": "34863024", "url": "https://glygen.org/publication/PubMed/34863024" } ] }, { "annotation": "Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling.", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912#function" } ] }, { "annotation": "Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912#function" } ] }, { "annotation": "The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling.", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912#function" }, { "database": "UniProtKB", "id": "A0A087X0H5", "url": "https://www.uniprot.org/uniprot/A0A087X0H5#function" }, { "database": "UniProtKB", "id": "ARBA00003894", "url": "https://www.uniprot.org/uniprot/ARBA00003894#function" } ] }, { "annotation": "This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_000154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000154" } ] } ], "disease": [ { "disease_id": "DOID:13810", "recommended_name": { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease." }, "synonyms": [ { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "Fredrickson type IIa hyperlipoproteinemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "Fredrickson type IIa lipidaemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "familial hyperbetalipoproteinaemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "familial hypercholesteremia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "hyperbetalipoproteinemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "type II hyperlipidemia", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, 1", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "FHCL1", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "LDL cholesterol level QTL2", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "LDL receptor disorder", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, 1", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, due to ldlr defect, modifier of", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, modifier of", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemic xanthomatosis, familial", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hyperlipoproteinemia, type 2", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hyperlipoproteinemia, type 2A", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "FHC", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hyper-low-density-lipoproteinemia", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, susceptibility to", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "low density lipoprotein cholesterol level quantitative trait locus 2", "description": "" }, { "id": "MIM:143890", "resource": "MIM", "url": "https://www.omim.org/entry/143890", "name": "Hypercholesterolemia, familial, 1", "description": "Hypercholesterolemia, familial, 1" } ], "evidence": [ { "id": "143890", "database": "MIM", "url": "https://www.omim.org/entry/143890" } ] }, { "disease_id": "DOID:9521", "recommended_name": { "id": "DOID:9521", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9521", "name": "Laron syndrome", "description": "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12." }, "synonyms": [ { "id": "DOID:9521", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9521", "name": "Laron-type isolated somatotropin defect", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron syndrome", "description": "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "GH receptor deficiency", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Growth hormone receptor deficiency", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron syndrome", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron-type dwarfism", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron-type isolated somatotropin defect", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "complete growth hormone insensitivity", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "primary GH insensitivity", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "primary GH resistance", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "primary growth hormone insensitivity", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "primary growth hormone resistance", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "short stature due to growth hormone resistance", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron dwarfism", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron type pituitary dwarfism I", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "growth hormone insensitivity syndrome", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "pituitary dwarfism 2", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "pituitary dwarfism II", "description": "" }, { "id": "MIM:262500", "resource": "MIM", "url": "https://www.omim.org/entry/262500", "name": "Laron syndrome", "description": "Laron syndrome" } ], "evidence": [ { "id": "262500", "database": "MIM", "url": "https://www.omim.org/entry/262500" } ] }, { "disease_id": "MONDO:0011420", "recommended_name": { "id": "MONDO:0011420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011420", "name": "short stature due to partial GHR deficiency", "description": "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone." }, "synonyms": [ { "id": "MONDO:0011420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011420", "name": "short stature due to partial growth hormone receptor deficiency", "description": "" }, { "id": "MONDO:0011420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011420", "name": "GHIP", "description": "" }, { "id": "MONDO:0011420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011420", "name": "Growth hormone deficiency, isolated, partial", "description": "" }, { "id": "MONDO:0011420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011420", "name": "Growth hormone, insensitivity to, partial", "description": "" }, { "id": "MONDO:0011420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011420", "name": "growth hormone insensitivity, partial", "description": "" }, { "id": "MONDO:0011420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011420", "name": "increased responsiveness to Growth hormone", "description": "" }, { "id": "MIM:604271", "resource": "MIM", "url": "https://www.omim.org/entry/604271", "name": "Growth hormone insensitivity, partial", "description": "Growth hormone insensitivity, partial" } ], "evidence": [ { "id": "604271", "database": "MIM", "url": "https://www.omim.org/entry/604271" } ] } ], "snv": [ { "evidence": [ { "id": "rs121909372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909372" }, { "id": "rs121909372", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909372" }, { "id": "17405847", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17405847" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 112, "end_pos": 112, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSC->NSS).", "chr_id": "5", "chr_pos": "42694985", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C112", "disease": [ { "disease_id": "DOID:9521", "recommended_name": { "id": "DOID:9521", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9521", "name": "Laron syndrome", "description": "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12." }, "synonyms": [ { "id": "DOID:9521", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9521", "name": "Laron-type isolated somatotropin defect", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron syndrome", "description": "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "GH receptor deficiency", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Growth hormone receptor deficiency", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron syndrome", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron-type dwarfism", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron-type isolated somatotropin defect", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "complete growth hormone insensitivity", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "primary GH insensitivity", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "primary GH resistance", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "primary growth hormone insensitivity", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "primary growth hormone resistance", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "short stature due to growth hormone resistance", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron dwarfism", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron type pituitary dwarfism I", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "growth hormone insensitivity syndrome", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "pituitary dwarfism 2", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "pituitary dwarfism II", "description": "" }, { "id": "MIM:262500", "resource": "MIM", "url": "https://www.omim.org/entry/262500", "name": "Laron syndrome", "description": "Laron syndrome" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1579626395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1579626395" }, { "id": "rs1579626395", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1579626395" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 115, "end_pos": 115, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->TSS).", "chr_id": "5", "chr_pos": "42694994", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N115", "disease": [ { "disease_id": "DOID:9521", "recommended_name": { "id": "DOID:9521", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9521", "name": "Laron syndrome", "description": "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12." }, "synonyms": [ { "id": "DOID:9521", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9521", "name": "Laron-type isolated somatotropin defect", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "Laron syndrome", "description": "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." }, { "id": "MONDO:0009877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009877", "name": "GH receptor deficiency", "description": "" }, { "id": "MONDO:0009877", "resource": "MONDO", 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"sequence": "MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTNSSKEPKFTKCRSPERETFSCHWTDEVHHGTKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPIALNWTLLNVSLTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKVDKEYEVRVRSKQRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVMLFVFLFSKQQRIKMLILPPVPVPKIKGIDPDLLKEGKLEEVNTILAIHDSYKPEFHSDDSWVEFIELDIDEPDEKTEESDTDRLLSSDHEKSHSNLGVKDGDSGRTSCCEPDILETDFNANDIHEGTSEVAQPQRLKGEADLLCLDQKNQNNSPYHDACPATQQPSVIQAEKNKPQPLPTEGAESTHQAAHIQLSNPSSLSNIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCDMHPEMVSLCQENFLMDNAYFCEADAKKCIPVAPHIKVESHIQPSLNQEDIYITTESLTTAAGRPGTGEHVPGSEMPVPDYTSIHIVQSPQGLILNATALPLPDKEFLSSCGYVSTDQLNKIMP", "length": 638, "header": "sp|P10912-1|GHR_HUMAN Isoform 1 of Growth hormone receptor OS=Homo sapiens OX=9606 GN=GHR PE=1 SV=1 CANONICAL=P10912-1" }, "isoforms": [ { "isoform_ac": "A0A087X0H5-1", "url": "", "sequence": { "sequence": 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"url": "https://www.ensembl.org/id/ENSP00000483926.1" } ] } }, { "isoform_ac": "E7ES05-1", "url": "", "sequence": { "sequence": "MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTRTLKNGLKNGKNALIMFLLGKTAVTLIHRLPPSGYLIVSS", "length": 85, "header": "tr|E7ES05-1|E7ES05_HUMAN Computationally mapped isoform of Growth hormone receptor OS=Homo sapiens OX=9606 GN=GHR PE=1 SV=1 CANONICAL=P10912-1" }, "locus": { "chromosome": "5", "start_pos": 42695035, "end_pos": 42565875, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511135.5", "url": "https://www.ensembl.org/id/ENST00000511135.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422333.1", "url": "https://www.ensembl.org/id/ENSP00000422333.1" } ] } }, { "isoform_ac": "E9PCN7-1", "url": "", "sequence": { "sequence": "MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTRWGPCSHIKKMESYMQA", "length": 62, "header": "tr|E9PCN7-1|GHR_HUMAN Computationally mapped isoform of Growth hormone receptor OS=Homo sapiens OX=9606 GN=GHR PE=1 SV=1 CANONICAL=P10912-1" }, "locus": { "chromosome": "5", "start_pos": 42647669, "end_pos": 42565875, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513671.5", "url": "https://www.ensembl.org/id/ENST00000513671.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426739.1", "url": "https://www.ensembl.org/id/ENSP00000426739.1" } ] } }, { "isoform_ac": "P10912-1", "url": "", "sequence": { "sequence": "MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTNSSKEPKFTKCRSPERETFSCHWTDEVHHGTKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPIALNWTLLNVSLTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKVDKEYEVRVRSKQRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVMLFVFLFSKQQRIKMLILPPVPVPKIKGIDPDLLKEGKLEEVNTILAIHDSYKPEFHSDDSWVEFIELDIDEPDEKTEESDTDRLLSSDHEKSHSNLGVKDGDSGRTSCCEPDILETDFNANDIHEGTSEVAQPQRLKGEADLLCLDQKNQNNSPYHDACPATQQPSVIQAEKNKPQPLPTEGAESTHQAAHIQLSNPSSLSNIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCDMHPEMVSLCQENFLMDNAYFCEADAKKCIPVAPHIKVESHIQPSLNQEDIYITTESLTTAAGRPGTGEHVPGSEMPVPDYTSIHIVQSPQGLILNATALPLPDKEFLSSCGYVSTDQLNKIMP", "length": 638, "header": "sp|P10912-1|GHR_HUMAN Isoform 1 of Growth hormone receptor OS=Homo sapiens OX=9606 GN=GHR PE=1 SV=1 CANONICAL=P10912-1" }, "locus": { "chromosome": "5", "start_pos": 42719421, "end_pos": 42565875, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000230882.9", "url": "https://www.ensembl.org/id/ENST00000230882.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000230882.4", "url": "https://www.ensembl.org/id/ENSP00000230882.4" } ] } }, { "isoform_ac": "P10912-2", "url": "", "sequence": { "sequence": "MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTNSSKEPKFTKCRSPERETFSCHWTDEVHHGTKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPIALNWTLLNVSLTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKVDKEYEVRVRSKQRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVMLFVFLFSKQQSSSSKD", "length": 297, "header": "sp|P10912-2|GHR_HUMAN Isoform 2 of Growth hormone receptor OS=Homo sapiens OX=9606 GN=GHR PE=1 SV=1 CANONICAL=P10912-1" }, "locus": {} }, { "isoform_ac": "P10912-3", "url": "", "sequence": { "sequence": "MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTNSSKEPKFTKCRSPERETFSCHWTDEVHHGTKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPIALNWTLLNVSLTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKVDKEYEVRVRSKQRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVMLFVFLFSKQQKEN", "length": 294, "header": "sp|P10912-3|GHR_HUMAN Isoform 3 of Growth hormone receptor OS=Homo sapiens OX=9606 GN=GHR PE=1 SV=1 CANONICAL=P10912-1" }, "locus": {} }, { "isoform_ac": "P10912-4", "url": "", "sequence": { "sequence": "MDLWQLLLTLALAGSSDAFSGSEDSSKEPKFTKCRSPERETFSCHWTDEVHHGTKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPIALNWTLLNVSLTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKVDKEYEVRVRSKQRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVMLFVFLFSKQQRIKMLILPPVPVPKIKGIDPDLLKEGKLEEVNTILAIHDSYKPEFHSDDSWVEFIELDIDEPDEKTEESDTDRLLSSDHEKSHSNLGVKDGDSGRTSCCEPDILETDFNANDIHEGTSEVAQPQRLKGEADLLCLDQKNQNNSPYHDACPATQQPSVIQAEKNKPQPLPTEGAESTHQAAHIQLSNPSSLSNIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCDMHPEMVSLCQENFLMDNAYFCEADAKKCIPVAPHIKVESHIQPSLNQEDIYITTESLTTAAGRPGTGEHVPGSEMPVPDYTSIHIVQSPQGLILNATALPLPDKEFLSSCGYVSTDQLNKIMP", "length": 616, "header": "sp|P10912-4|GHR_HUMAN Isoform 4 of Growth hormone receptor OS=Homo sapiens OX=9606 GN=GHR PE=1 SV=1 CANONICAL=P10912-1" }, "locus": { "chromosome": "5", "start_pos": 42719421, "end_pos": 42565875, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357703.6", "url": "https://www.ensembl.org/id/ENST00000357703.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000350335.3", "url": "https://www.ensembl.org/id/ENSP00000350335.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "P10912", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10912#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "P10912", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10912#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "P10912", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10912#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 200, "start_aa": "Asn", "end_pos": 200, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn200", "evidence": [ { "id": "P10912", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10912#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 30, "start_aa": "Ser", "end_pos": 30, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser30", "evidence": [ { "id": "P10912", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "APWSLQSVNPGLK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 32, "start_aa": "Ala", "end_pos": 44, "end_aa": "Lys", "evidence": [ { "id": "P10912", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 46, "start_aa": "Asn", "end_pos": 46, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn46", "evidence": [ { "id": "P10912", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10912#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 332, "end_pos": 332, "kinase_uniprot_canonical_ac": "O60674-1", "kinase_gene_name": "JAK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P10912", "url": "http://phospho.elm.eu.org/byAccession/P10912.html" }, { "database": "iPTMnet", "id": "P10912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10912" }, { "database": "PubMed", "id": "9121492", "url": "https://glygen.org/publication/PubMed/9121492" } ], "site_lbl": "Tyr332" }, { "start_pos": 332, "end_pos": 332, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10912" }, { "database": "PubMed", "id": "9121492", "url": "https://glygen.org/publication/PubMed/9121492" }, { "database": "PRO", "id": "P10912", "url": "http://purl.obolibrary.org/obo/P10912" }, { "database": "PubMed", "id": "33774052", "url": "https://glygen.org/publication/PubMed/33774052" } ], "site_lbl": "Tyr332" }, { "start_pos": 341, "end_pos": 341, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P10912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10912" } ], "site_lbl": "Ser341" }, { "start_pos": 487, "end_pos": 487, "kinase_uniprot_canonical_ac": "O60674-1", "kinase_gene_name": "JAK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P10912", "url": "http://phospho.elm.eu.org/byAccession/P10912.html" }, { "database": "iPTMnet", "id": "P10912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10912" }, { "database": "PubMed", "id": "9121492", "url": "https://glygen.org/publication/PubMed/9121492" } ], "site_lbl": "Tyr487" }, { "start_pos": 487, "end_pos": 487, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10912" }, { "database": "PubMed", "id": "9121492", "url": "https://glygen.org/publication/PubMed/9121492" }, { "database": "PRO", "id": "P10912", "url": "http://purl.obolibrary.org/obo/P10912" }, { "database": "PubMed", "id": "33774052", "url": "https://glygen.org/publication/PubMed/33774052" } ], "site_lbl": "Tyr487" }, { "start_pos": 534, "end_pos": 534, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10912" }, { "database": "PubMed", "id": "9121492", "url": "https://glygen.org/publication/PubMed/9121492" }, { "database": "phospho.ELM", "id": "P10912", "url": "http://phospho.elm.eu.org/byAccession/P10912.html" }, { "database": "PubMed", "id": "8647880", "url": "https://glygen.org/publication/PubMed/8647880" }, { "database": "PRO", "id": "P10912", "url": "http://purl.obolibrary.org/obo/P10912" }, { "database": "PubMed", "id": "33774052", "url": "https://glygen.org/publication/PubMed/33774052" } ], "site_lbl": "Tyr534" }, { "start_pos": 566, "end_pos": 566, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10912" }, { "database": "PubMed", "id": "9121492", "url": "https://glygen.org/publication/PubMed/9121492" }, { "database": "phospho.ELM", "id": "P10912", "url": "http://phospho.elm.eu.org/byAccession/P10912.html" }, { "database": "PubMed", "id": "8647880", "url": "https://glygen.org/publication/PubMed/8647880" }, { "database": "PRO", "id": "P10912", "url": "http://purl.obolibrary.org/obo/P10912" }, { "database": "PubMed", "id": "33774052", "url": "https://glygen.org/publication/PubMed/33774052" } ], "site_lbl": "Tyr566" }, { "start_pos": 627, "end_pos": 627, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10912" }, { "database": "PubMed", "id": "9121492", "url": "https://glygen.org/publication/PubMed/9121492" }, { "database": "phospho.ELM", "id": "P10912", "url": "http://phospho.elm.eu.org/byAccession/P10912.html" }, { "database": "PubMed", "id": "8647880", "url": "https://glygen.org/publication/PubMed/8647880" }, { "database": "PRO", "id": "P10912", "url": "http://purl.obolibrary.org/obo/P10912" }, { "database": "PubMed", "id": "33774052", "url": "https://glygen.org/publication/PubMed/33774052" } ], "site_lbl": "Tyr627" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "P10912", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Characterization of single-nucleotide polymorphisms in coding regions of human genes.", "journal": "Nature genetics", "date": "1999", "authors": "Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "reference": [ { "type": "PubMed", "id": "10391209", "url": "https://glygen.org/publication/PubMed/10391209" } ] }, { "title": "Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Pantel J, Machinis K, Sobrier M L, Duquesnoy P, Goossens M, Amselem S", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "reference": [ { "type": "PubMed", "id": "10764769", "url": "https://glygen.org/publication/PubMed/10764769" } ] }, { "title": "Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation.", "journal": "European journal of endocrinology", "date": "2000", "authors": "Enberg B, Luthman H, Segnestam K, Ritzen EM, Sundstrom M, Norstedt G", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "reference": [ { "type": "PubMed", "id": "10870033", "url": "https://glygen.org/publication/PubMed/10870033" } ] }, { "title": "Identification of a region critical for proteolysis of the human growth hormone receptor.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Conte F, Salles JP, Raynal P, Fernandez L, Molinas C, Tauber M, Bieth E", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "reference": [ { "type": "PubMed", "id": "11785980", "url": "https://glygen.org/publication/PubMed/11785980" } ] }, { "title": "Identification of protein tyrosine phosphatases with specificity for the ligand-activated growth hormone receptor.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2003", "authors": "Pasquali C, Curchod ML, Walchli S, Espanel X, Guerrier M, Arigoni F, Strous G, Hooft van Huijsduijnen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "12907755", "url": "https://glygen.org/publication/PubMed/12907755" } ] }, { "title": "Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.", "journal": "Am. J. Med. Genet. A", "date": "2003", "authors": "Takada D, Ezura Y, Ono S, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN, Emi M", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "reference": [ { "type": "PubMed", "id": "12910492", "url": "https://glygen.org/publication/PubMed/12910492" } ] }, { "title": "The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.", "journal": "Clinical endocrinology", "date": "2004", "authors": "Jorge AA, Souza SC, Arnhold IJ, Mendonca BB", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "reference": [ { "type": "PubMed", "id": "14678285", "url": "https://glygen.org/publication/PubMed/14678285" } ] }, { "title": "Negative regulation of prolactin receptor stability and signaling mediated by SCF(beta-TrCP) E3 ubiquitin ligase.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Li Y, Kumar KG, Tang W, Spiegelman VS, Fuchs SY", "evidence": [ { "database": "Reactome", "id": "R-HSA-1170546", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546" } ], "reference": [ { "type": "PubMed", "id": "15082796", "url": "https://glygen.org/publication/PubMed/15082796" } ] }, { "title": "Human growth hormone and extracellular domain of its receptor: crystal structure of the complex.", "journal": "Science", "date": "1992", "authors": "de Vos AM, Ultsch M, Kossiakoff AA", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" }, { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "1549776", "url": "https://glygen.org/publication/PubMed/1549776" } ] }, { "title": "Expression of a human growth hormone (hGH) receptor isoform is predicted by tissue-specific alternative splicing of exon 3 of the hGH receptor gene transcript.", "journal": "Mol. 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Endocrinol.", "date": "1997", "authors": "Ross RJ, Esposito N, Shen XY, Von Laue S, Chew SL, Dobson PR, Postel-Vinay MC, Finidori J", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" }, { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "9058373", "url": "https://glygen.org/publication/PubMed/9058373" } ] }, { "title": "Identification of growth hormone receptor (GHR) tyrosine residues required for GHR phosphorylation and JAK2 and STAT5 activation.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1996", "authors": "Wang X, Darus CJ, Xu BC, Kopchick JJ", "evidence": [ { "database": "iPTMnet", "id": "P10912-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10912-1" } ], "reference": [ { "type": "PubMed", "id": "9121492", "url": "https://glygen.org/publication/PubMed/9121492" } ] }, { "title": "A membrane-fixed, truncated isoform of the human growth hormone receptor.", "journal": "J. Clin. Endocrinol. Metab.", "date": "1997", "authors": "Amit T, Bergman T, Dastot F, Youdim M B, Amselem S, Hochberg Z", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "reference": [ { "type": "PubMed", "id": "9360546", "url": "https://glygen.org/publication/PubMed/9360546" } ] }, { "title": "A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing hormone analogue.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Walker JL, Crock PA, Behncken SN, Rowlinson SW, Nicholson LM, Boulton TJ, Waters MJ", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "reference": [ { "type": "PubMed", "id": "9661642", "url": "https://glygen.org/publication/PubMed/9661642" } ] }, { "title": "Growth hormone receptor mutations in children with idiopathic short stature.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Sanchez JE, Perera E, Baumbach L, Cleveland WW", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "reference": [ { "type": "PubMed", "id": "9814495", "url": "https://glygen.org/publication/PubMed/9814495" } ] }, { "title": "Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Wojcik J, Berg MA, Esposito N, Geffner ME, Sakati N, Reiter EO, Dower S, Francke U, Postel-Vinay MC, Finidori J", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "reference": [ { "type": "PubMed", "id": "9851797", "url": "https://glygen.org/publication/PubMed/9851797" } ] } ], "pathway": [ { "id": "hsa:2690", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2690", "resource": "KEGG Pathway" }, { "id": "R-HSA-1170546", "name": "Prolactin receptor signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546", "resource": "Reactome", "description": "Prolactin receptor signaling" }, { "id": "R-HSA-982772", "name": "Growth hormone receptor signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772", "resource": "Reactome", "description": "Growth hormone receptor signaling" } ], "orthologs": [ { "uniprot_canonical_ac": "P16310-1", "protein_name": "Growth hormone receptor", "gene_name": "Ghr", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "growth hormone receptor complex", "id": "GO:0070195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070195", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 26, "go_terms": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "cellular response to hormone stimulus", "id": "GO:0032870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032870", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "positive regulation of MAP kinase activity", "id": "GO:0043406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor signaling pathway", "id": "GO:0048009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048009", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "positive regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042531", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "cartilage development involved in endochondral bone morphogenesis", "id": "GO:0060351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060351", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway", "id": "GO:0060396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060396", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "response to cycloheximide", "id": "GO:0046898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046898", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "taurine metabolic process", "id": "GO:0019530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019530", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "response to gravity", "id": "GO:0009629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009629", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "regulation of response to nutrient levels", "id": "GO:0032107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032107", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 12, "go_terms": [ { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P10912", "url": "https://www.uniprot.org/uniprot/P10912" } ], "pmid": "" }, { "name": "protein 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