GHR
entrez
2690
canonical
uniprot
P10912
canonical
ensembl
ENSG00000112964
resolver
ensp
ENSP00000230882
resolver
ensp
ENSP00000350335
resolver
ensp
ENSP00000442206
resolver
ensp
ENSP00000478291
resolver
ensp
ENSP00000478332
resolver
ensp
ENSP00000479846
resolver
ensp
ENSP00000482373
resolver
ensp
ENSP00000483403
resolver
ensp
ENSP00000483926
resolver
ensp
ENSP00000557754
resolver
enst
ENST00000620156
resolver
enst
ENST00000622294
resolver
genesymbol
GHR
resolver
hgnc
HGNC:4263
resolver
uniprot
A0A087X0H5
resolver
uniprot
A0A087X162
resolver
uniprot
Q9HCX2
resolver
uniprot_entry
A0A087X0H5_HUMAN
resolver
uniprot_entry
A0A087X162_HUMAN
resolver
uniprot_entry
GHR_HUMAN
resolver
uniprot_sec
Q9HCX2
resolver
amino_acid_sequence
MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTNSSKEPKFTKCRSPERETFSCHWTDEVHHGTKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPIALNWTLLNVSLTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKVDKEYEVRVRSKQRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVMLFVFLFSKQQRIKMLILPPVPVPKIKGIDPDLLKEGKLEEVNTILAIHDSYKPEFHSDDSWVEFIELDIDEPDEKTEESDTDRLLSSDHEKSHSNLGVKDGDSGRTSCCEPDILETDFNANDIHEGTSEVAQPQRLKGEADLLCLDQKNQNNSPYHDACPATQQPSVIQAEKNKPQPLPTEGAESTHQAAHIQLSNPSSLSNIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCDMHPEMVSLCQENFLMDNAYFCEADAKKCIPVAPHIKVESHIQPSLNQEDIYITTESLTTAAGRPGTGEHVPGSEMPVPDYTSIHIVQSPQGLILNATALPLPDKEFLSSCGYVSTDQLNKIMP
uniprot
proteins
disease_involvement
DISEASE: Laron syndrome (LARS) [MIM:262500]: A severe form of growth hormone insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to generate insulin-like growth factor I in response to growth hormone. {ECO:0000269|PubMed:10870033, ECO:0000269|PubMed:14678285, ECO:0000269|PubMed:2779634, ECO:0000269|PubMed:8137822, ECO:0000269|PubMed:8450064, ECO:0000269|PubMed:8504296, ECO:0000269|PubMed:9024232, ECO:0000269|PubMed:9661642, ECO:0000269|PubMed:9851797}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Growth hormone insensitivity, partial (GHIP) [MIM:604271]: A disease characterized by partial resistance to growth hormone resulting in short stature. Short stature is defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, healthy, genetically relevant population. {ECO:0000269|PubMed:7565946}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for pituitary gland growth hormone (GH1) involved in regulating postnatal body growth (PubMed:1549776, PubMed:2825030, PubMed:8943276). On ligand binding, couples to the JAK2/STAT5 pathway (PubMed:1549776, PubMed:15690087, PubMed:2825030, PubMed:8943276). {ECO:0000269|PubMed:1549776, ECO:0000269|PubMed:15690087, ECO:0000269|PubMed:2825030, ECO:0000269|PubMed:8943276}.; FUNCTION: [Growth hormone-binding protein]: The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling. {ECO:0000269|PubMed:2825030}.; FUNCTION: [Isoform 2]: Up-regulates the production of the soluble Growth hormone-binding protein form (GHBP) and acts as a negative inhibitor of growth hormone signaling. {ECO:0000269|PubMed:8855247, ECO:0000269|PubMed:9360546}.
uniprot
proteins
mass_dalton
71500
uniprot
proteins
mutagenesis
MUTAGEN 260; /note="E->A: No change in shedding activity: No change in hormone binding."; /evidence="ECO:0000269|PubMed:11785980"; MUTAGEN 261; /note="E->A: No change in shedding activity: No change in hormone binding."; /evidence="ECO:0000269|PubMed:11785980"; MUTAGEN 262; /note="D->A: No change in shedding activity: No change in hormone binding."; /evidence="ECO:0000269|PubMed:11785980"; MUTAGEN 487; /note="Y->F: Increased growth hormone receptor signaling pathway due to decreased ubiquitination by the ECS(SOCS2) complex; when associated with F-595."; /evidence="ECO:0000269|PubMed:15690087, ECO:0000269|PubMed:21980433"; MUTAGEN 595; /note="Y->F: Increased growth hormone receptor signaling pathway due to decreased ubiquitination by the ECS(SOCS2) complex; when associated with F-487."; /evidence="ECO:0000269|PubMed:15690087, ECO:0000269|PubMed:21980433
uniprot
proteins
post_translational_modification
PTM: The soluble form (GHBP) is produced by phorbol ester-promoted proteolytic cleavage at the cell surface (shedding) by ADAM17/TACE (PubMed:11785980). Shedding is inhibited by growth hormone (GH) binding to the receptor probably due to a conformational change in GHR rendering the receptor inaccessible to ADAM17 (By similarity). {ECO:0000250|UniProtKB:P19941, ECO:0000269|PubMed:11785980}.; PTM: On GH binding, phosphorylated on tyrosine residues in the cytoplasmic domain by JAK2. {ECO:0000269|PubMed:15690087, ECO:0000269|PubMed:21980433, ECO:0000269|PubMed:25505247}.; PTM: Ubiquitinated by the ECS(SOCS2) complex following ligand-binding and phosphorylation by JAK2, leading to its degradation by the proteasome (PubMed:21980433, PubMed:25505247, PubMed:31182716, PubMed:34857742). Regulation by the ECS(SOCS2) complex acts as a negative feedback loop of growth hormone receptor signaling (PubMed:21980433). Ubiquitination is not sufficient for GHR internalization (By similarity). {ECO:0000250|UniProtKB:P19941, ECO:0000269|PubMed:21980433, ECO:0000269|PubMed:25505247, ECO:0000269|PubMed:31182716, ECO:0000269|PubMed:34857742}.
uniprot
proteins
protein_family
Type 1 subfamily
uniprot
proteins
protein_family
Type I cytokine receptor family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
10764769
uniprot
proteins
pubmed
10870033
uniprot
proteins
pubmed
11785980
uniprot
proteins
pubmed
12910492
uniprot
proteins
pubmed
14678285
uniprot
proteins
pubmed
1549776
uniprot
proteins
pubmed
15690087
uniprot
proteins
pubmed
1569971
uniprot
proteins
pubmed
21980433
uniprot
proteins
pubmed
2406245
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25505247
uniprot
proteins
pubmed
2779634
uniprot
proteins
pubmed
2813379
uniprot
proteins
pubmed
2825030
uniprot
proteins
pubmed
31182716
uniprot
proteins
pubmed
34857742
uniprot
proteins
pubmed
7565946
uniprot
proteins
pubmed
8137822
uniprot
proteins
pubmed
8360189
uniprot
proteins
pubmed
8421103
uniprot
proteins
pubmed
8450064
uniprot
proteins
pubmed
8504296
uniprot
proteins
pubmed
8855247
uniprot
proteins
pubmed
8943276
uniprot
proteins
pubmed
9024232
uniprot
proteins
pubmed
9058373
uniprot
proteins
pubmed
9360546
uniprot
proteins
pubmed
9661642
uniprot
proteins
pubmed
9814495
uniprot
proteins
pubmed
9851797
uniprot
proteins
sequence_length
638
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:2825030}; Single-pass type I membrane protein {ECO:0000255}. Note=On growth hormone binding, GHR is ubiquitinated, internalized, down-regulated and transported into a degradative or non-degradative pathway. {ECO:0000250|UniProtKB:P19941}.; SUBCELLULAR LOCATION: [Isoform 2]: Cell membrane {ECO:0000269|PubMed:9360546}; Single-pass type I membrane protein {ECO:0000255}. Note=Remains fixed to the cell membrane and is not internalized. {ECO:0000269|PubMed:9360546}.; SUBCELLULAR LOCATION: [Growth hormone-binding protein]: Secreted {ECO:0000269|PubMed:2825030}. Note=Complexed to a substantial fraction of circulating GH. {ECO:0000269|PubMed:2825030}.
uniprot
proteins
transmembrane_region
TRANSMEM 265..288; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins