UniProtKB - P10912 (GHR_HUMAN)
Growth hormone receptor
GHR
Functioni
Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity).
By similarityThe soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling.
Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 345 | Required for endocytosis and down-regulationBy similarity | 1 |
GO - Molecular functioni
- cytokine binding Source: GO_Central
- cytokine receptor activity Source: GO_Central
- growth factor binding Source: BHF-UCL
- growth hormone receptor activity Source: GO_Central
- identical protein binding Source: IntAct
- peptide hormone binding Source: BHF-UCL
- proline-rich region binding Source: BHF-UCL
- protein homodimerization activity Source: BHF-UCL
- protein kinase binding Source: BHF-UCL
- protein phosphatase binding Source: Ensembl
- SH2 domain binding Source: Ensembl
GO - Biological processi
- activation of Janus kinase activity Source: Ensembl
- cartilage development involved in endochondral bone morphogenesis Source: Ensembl
- cellular response to hormone stimulus Source: BHF-UCL
- cellular response to insulin stimulus Source: Ensembl
- cytokine-mediated signaling pathway Source: GO_Central
- endocytosis Source: UniProtKB-KW
- growth hormone receptor signaling pathway Source: BHF-UCL
- hormone-mediated signaling pathway Source: Ensembl
- hormone metabolic process Source: BHF-UCL
- insulin-like growth factor receptor signaling pathway Source: BHF-UCL
- negative regulation of neuron death Source: Ensembl
- positive regulation of cell differentiation Source: Ensembl
- positive regulation of MAP kinase activity Source: BHF-UCL
- positive regulation of multicellular organism growth Source: BHF-UCL
- positive regulation of peptidyl-tyrosine phosphorylation Source: BHF-UCL
- positive regulation of receptor signaling pathway via JAK-STAT Source: GO_Central
- positive regulation of tyrosine phosphorylation of STAT protein Source: BHF-UCL
- receptor internalization Source: BHF-UCL
- receptor signaling pathway via JAK-STAT Source: BHF-UCL
- regulation of multicellular organism growth Source: BHF-UCL
- response to cycloheximide Source: BHF-UCL
- response to estradiol Source: BHF-UCL
- response to food Source: Ensembl
- response to glucocorticoid Source: Ensembl
- response to interleukin-1 Source: Ensembl
- response to morphine Source: Ensembl
- taurine metabolic process Source: BHF-UCL
Keywordsi
Molecular function | Receptor |
Biological process | Endocytosis |
Enzyme and pathway databases
PathwayCommonsi | P10912 |
Reactomei | R-HSA-1170546, Prolactin receptor signaling R-HSA-982772, Growth hormone receptor signaling |
SignaLinki | P10912 |
SIGNORi | P10912 |
Names & Taxonomyi
Protein namesi | Recommended name: Growth hormone receptorShort name: GH receptor Alternative name(s): Somatotropin receptor Cleaved into the following chain: Alternative name(s): Serum-binding protein |
Gene namesi | Name:GHR |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4263, GHR |
MIMi | 600946, gene |
neXtProti | NX_P10912 |
VEuPathDBi | HostDB:ENSG00000112964 |
Subcellular locationi
Plasma membrane
Note: On growth hormone binding, GHR is ubiquitinated, internalized, down-regulated and transported into a degradative or non-degradative pathway.By similarity
Plasma membrane
Note: Remains fixed to the cell membrane and is not internalized.
Extracellular region or secreted
Note: Complexed to a substantial fraction of circulating GH.By similarity
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular region Source: Reactome
- extracellular space Source: BHF-UCL
Mitochondrion
- mitochondrion Source: Ensembl
Nucleus
- nucleus Source: Ensembl
Plasma Membrane
- external side of plasma membrane Source: GO_Central
- integral component of plasma membrane Source: BHF-UCL
- plasma membrane Source: HPA
Other locations
- cell surface Source: BHF-UCL
- cytoplasmic ribonucleoprotein granule Source: HPA
- growth hormone receptor complex Source: CAFA
- integral component of membrane Source: BHF-UCL
- neuronal cell body Source: Ensembl
- receptor complex Source: BHF-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 19 – 264 | ExtracellularSequence analysisAdd BLAST | 246 | |
Transmembranei | 265 – 288 | HelicalSequence analysisAdd BLAST | 24 | |
Topological domaini | 289 – 638 | CytoplasmicSequence analysisAdd BLAST | 350 |
Keywords - Cellular componenti
Cell membrane, Membrane, SecretedPathology & Biotechi
Involvement in diseasei
Laron syndrome (LARS)9 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018426 | 56 | C → S in LARS. 1 Publication | 1 | |
Natural variantiVAR_018427 | 58 | S → L in LARS. 1 Publication | 1 | |
Natural variantiVAR_018428 | 68 | W → R in LARS. 1 Publication | 1 | |
Natural variantiVAR_002709 | 89 | R → K in LARS. 1 Publication | 1 | |
Natural variantiVAR_002710 | 114 | F → S in LARS; loss of ability to bind ligand. 2 PublicationsCorresponds to variant dbSNP:rs121909357EnsemblClinVar. | 1 | |
Natural variantiVAR_002711 | 143 | V → A in LARS. | 1 | |
Natural variantiVAR_018429 | 149 | P → Q in LARS; disrupts GH binding. 2 PublicationsCorresponds to variant dbSNP:rs121909365EnsemblClinVar. | 1 | |
Natural variantiVAR_002712 | 162 | V → D in LARS. 1 Publication | 1 | |
Natural variantiVAR_002713 | 170 | D → H in LARS; abolishes receptor homodimerization. 2 PublicationsCorresponds to variant dbSNP:rs121909366EnsemblClinVar. | 1 | |
Natural variantiVAR_018431 | 171 | I → T in LARS; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions. 1 PublicationCorresponds to variant dbSNP:rs121909367EnsemblClinVar. | 1 | |
Natural variantiVAR_018432 | 172 | Q → P in LARS; almost completely abolishes GH-binding at cell surface and in membrane fractions. 1 PublicationCorresponds to variant dbSNP:rs121909368EnsemblClinVar. | 1 | |
Natural variantiVAR_018433 | 173 | V → G in LARS; almost completely abolishes GH-binding at cell surface: 26% binding to membrane fractions. 1 PublicationCorresponds to variant dbSNP:rs121909369EnsemblClinVar. | 1 | |
Natural variantiVAR_002714 | 179 | R → C in LARS and GHIP. 2 PublicationsCorresponds to variant dbSNP:rs121909362EnsemblClinVar. | 1 | |
Natural variantiVAR_018434 | 226 | Y → C in LARS. 1 Publication | 1 | |
Natural variantiVAR_002715 | 229 | R → G in LARS. 1 Publication | 1 | |
Natural variantiVAR_018435 | 244 | S → I in LARS. 1 PublicationCorresponds to variant dbSNP:rs1164396446Ensembl. | 1 | |
Natural variantiVAR_018436 | 262 | D → N in LARS. 1 Publication | 1 |
Growth hormone insensitivity, partial (GHIP)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_002708 | 62 | E → K in GHIP. 1 PublicationCorresponds to variant dbSNP:rs121909361EnsemblClinVar. | 1 | |
Natural variantiVAR_002714 | 179 | R → C in LARS and GHIP. 2 PublicationsCorresponds to variant dbSNP:rs121909362EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 260 | E → A: No change in shedding activity: No change in hormone binding. 1 Publication | 1 | |
Mutagenesisi | 261 | E → A: No change in shedding activity: No change in hormone binding. 1 Publication | 1 | |
Mutagenesisi | 262 | D → A: No change in shedding activity: No change in hormone binding. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, DwarfismOrganism-specific databases
DisGeNETi | 2690 |
MalaCardsi | GHR |
MIMi | 143890, phenotype 262500, phenotype 604271, phenotype |
OpenTargetsi | ENSG00000112964 |
Orphaneti | 633, Laron syndrome 314802, Short stature due to partial GHR deficiency |
PharmGKBi | PA28674 |
Miscellaneous databases
Pharosi | P10912, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1976 |
DrugBanki | DB00082, Pegvisomant DB15093, Somapacitan DB00052, Somatotropin DB09098, Somatrem |
DrugCentrali | P10912 |
Genetic variation databases
BioMutai | GHR |
DMDMi | 121180 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 18 | Sequence analysisAdd BLAST | 18 | |
ChainiPRO_0000010957 | 19 – 638 | Growth hormone receptorAdd BLAST | 620 | |
ChainiPRO_0000010958 | 19 – 256 | Growth hormone-binding proteinBy similarityAdd BLAST | 238 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 46 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 56 ↔ 66 | 1 Publication | ||
Disulfide bondi | 101 ↔ 112 | 1 Publication | ||
Glycosylationi | 115 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 126 ↔ 140 | 1 Publication | ||
Glycosylationi | 156 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 161 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 200 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 341 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P10912 |
jPOSTi | P10912 |
MassIVEi | P10912 |
PaxDbi | P10912 |
PeptideAtlasi | P10912 |
PRIDEi | P10912 |
ProteomicsDBi | 52672 [P10912-1] 52673 [P10912-2] 52674 [P10912-3] 52675 [P10912-4] |
PTM databases
GlyGeni | P10912, 6 sites, 1 O-linked glycan (1 site) |
iPTMneti | P10912 |
PhosphoSitePlusi | P10912 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000112964, Expressed in adipose tissue and 208 other tissues |
ExpressionAtlasi | P10912, baseline and differential |
Genevisiblei | P10912, HS |
Organism-specific databases
HPAi | ENSG00000112964, Tissue enhanced (adipose tissue, liver) |
Interactioni
Subunit structurei
On growth hormone (GH) binding, forms homodimers and binds JAK2 via a box 1-containing domain. Binding to SOCS3 inhibits JAK2 activation, binding to CIS and SOCS2 inhibits STAT5 activation.
Interacts with ADAM17.
By similarityBinary interactionsi
P10912
GO - Molecular functioni
- cytokine binding Source: GO_Central
- growth factor binding Source: BHF-UCL
- identical protein binding Source: IntAct
- proline-rich region binding Source: BHF-UCL
- protein homodimerization activity Source: BHF-UCL
- protein kinase binding Source: BHF-UCL
- protein phosphatase binding Source: Ensembl
- SH2 domain binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 108957, 44 interactors |
DIPi | DIP-630N |
ELMi | P10912 |
IntActi | P10912, 22 interactors |
STRINGi | 9606.ENSP00000483403 |
Miscellaneous databases
RNActi | P10912, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P10912 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P10912 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 151 – 254 | Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST | 104 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 260 – 262 | Required for ADAM17-mediated proteolysisBy similarity | 3 | |
Regioni | 353 – 391 | DisorderedSequence analysisAdd BLAST | 39 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 240 – 244 | WSXWS motif | 5 | |
Motifi | 297 – 305 | Box 1 motif | 9 | |
Motifi | 340 – 349 | UbE motif | 10 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 359 – 379 | Basic and acidic residuesSequence analysisAdd BLAST | 21 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3555, Eukaryota |
GeneTreei | ENSGT00940000159987 |
HOGENOMi | CLU_022322_0_0_1 |
InParanoidi | P10912 |
OMAi | YCIKLTN |
OrthoDBi | 346239at2759 |
PhylomeDBi | P10912 |
TreeFami | TF330851 |
Family and domain databases
CDDi | cd00063, FN3, 1 hit |
DisProti | DP00033 |
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR036116, FN3_sf IPR025871, GHBP IPR015152, Growth/epo_recpt_lig-bind IPR013783, Ig-like_fold IPR003528, Long_hematopoietin_rcpt_CS |
Pfami | View protein in Pfam PF09067, EpoR_lig-bind, 1 hit PF00041, fn3, 1 hit PF12772, GHBP, 1 hit |
SUPFAMi | SSF49265, SSF49265, 2 hits |
PROSITEi | View protein in PROSITE PS50853, FN3, 1 hit PS01352, HEMATOPO_REC_L_F1, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDLWQLLLTL ALAGSSDAFS GSEATAAILS RAPWSLQSVN PGLKTNSSKE
60 70 80 90 100
PKFTKCRSPE RETFSCHWTD EVHHGTKNLG PIQLFYTRRN TQEWTQEWKE
110 120 130 140 150
CPDYVSAGEN SCYFNSSFTS IWIPYCIKLT SNGGTVDEKC FSVDEIVQPD
160 170 180 190 200
PPIALNWTLL NVSLTGIHAD IQVRWEAPRN ADIQKGWMVL EYELQYKEVN
210 220 230 240 250
ETKWKMMDPI LTTSVPVYSL KVDKEYEVRV RSKQRNSGNY GEFSEVLYVT
260 270 280 290 300
LPQMSQFTCE EDFYFPWLLI IIFGIFGLTV MLFVFLFSKQ QRIKMLILPP
310 320 330 340 350
VPVPKIKGID PDLLKEGKLE EVNTILAIHD SYKPEFHSDD SWVEFIELDI
360 370 380 390 400
DEPDEKTEES DTDRLLSSDH EKSHSNLGVK DGDSGRTSCC EPDILETDFN
410 420 430 440 450
ANDIHEGTSE VAQPQRLKGE ADLLCLDQKN QNNSPYHDAC PATQQPSVIQ
460 470 480 490 500
AEKNKPQPLP TEGAESTHQA AHIQLSNPSS LSNIDFYAQV SDITPAGSVV
510 520 530 540 550
LSPGQKNKAG MSQCDMHPEM VSLCQENFLM DNAYFCEADA KKCIPVAPHI
560 570 580 590 600
KVESHIQPSL NQEDIYITTE SLTTAAGRPG TGEHVPGSEM PVPDYTSIHI
610 620 630
VQSPQGLILN ATALPLPDKE FLSSCGYVST DQLNKIMP
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087X0H5 | A0A087X0H5_HUMAN | Growth hormone receptor | GHR | 645 | Annotation score: | ||
A0A087X162 | A0A087X162_HUMAN | Growth hormone receptor | GHR | 295 | Annotation score: | ||
E7ES05 | E7ES05_HUMAN | Growth hormone receptor | GHR | 85 | Annotation score: | ||
E9PCN7 | E9PCN7_HUMAN | Growth hormone receptor | GHR | 62 | Annotation score: |
Polymorphismi
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018426 | 56 | C → S in LARS. 1 Publication | 1 | |
Natural variantiVAR_018427 | 58 | S → L in LARS. 1 Publication | 1 | |
Natural variantiVAR_002708 | 62 | E → K in GHIP. 1 PublicationCorresponds to variant dbSNP:rs121909361EnsemblClinVar. | 1 | |
Natural variantiVAR_018428 | 68 | W → R in LARS. 1 Publication | 1 | |
Natural variantiVAR_002709 | 89 | R → K in LARS. 1 Publication | 1 | |
Natural variantiVAR_002710 | 114 | F → S in LARS; loss of ability to bind ligand. 2 PublicationsCorresponds to variant dbSNP:rs121909357EnsemblClinVar. | 1 | |
Natural variantiVAR_002711 | 143 | V → A in LARS. | 1 | |
Natural variantiVAR_018429 | 149 | P → Q in LARS; disrupts GH binding. 2 PublicationsCorresponds to variant dbSNP:rs121909365EnsemblClinVar. | 1 | |
Natural variantiVAR_002712 | 162 | V → D in LARS. 1 Publication | 1 | |
Natural variantiVAR_020002 | 162 | V → F. Corresponds to variant dbSNP:rs6413484EnsemblClinVar. | 1 | |
Natural variantiVAR_018430 | 162 | V → I Found in a patient with idiopathic short stature; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs6413484EnsemblClinVar. | 1 | |
Natural variantiVAR_002713 | 170 | D → H in LARS; abolishes receptor homodimerization. 2 PublicationsCorresponds to variant dbSNP:rs121909366EnsemblClinVar. | 1 | |
Natural variantiVAR_018431 | 171 | I → T in LARS; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions. 1 PublicationCorresponds to variant dbSNP:rs121909367EnsemblClinVar. | 1 | |
Natural variantiVAR_018432 | 172 | Q → P in LARS; almost completely abolishes GH-binding at cell surface and in membrane fractions. 1 PublicationCorresponds to variant dbSNP:rs121909368EnsemblClinVar. | 1 | |
Natural variantiVAR_018433 | 173 | V → G in LARS; almost completely abolishes GH-binding at cell surface: 26% binding to membrane fractions. 1 PublicationCorresponds to variant dbSNP:rs121909369EnsemblClinVar. | 1 | |
Natural variantiVAR_002714 | 179 | R → C in LARS and GHIP. 2 PublicationsCorresponds to variant dbSNP:rs121909362EnsemblClinVar. | 1 | |
Natural variantiVAR_013937 | 179 | R → H1 PublicationCorresponds to variant dbSNP:rs6181Ensembl. | 1 | |
Natural variantiVAR_018434 | 226 | Y → C in LARS. 1 Publication | 1 | |
Natural variantiVAR_002715 | 229 | R → G in LARS. 1 Publication | 1 | |
Natural variantiVAR_013938 | 229 | R → H Found in a patient with idiopathic short stature; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs6177EnsemblClinVar. | 1 | |
Natural variantiVAR_002716 | 242 | E → D Found in a patient with idiopathic short stature; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45588036EnsemblClinVar. | 1 | |
Natural variantiVAR_018435 | 244 | S → I in LARS. 1 PublicationCorresponds to variant dbSNP:rs1164396446Ensembl. | 1 | |
Natural variantiVAR_018436 | 262 | D → N in LARS. 1 Publication | 1 | |
Natural variantiVAR_013939 | 440 | C → F2 PublicationsCorresponds to variant dbSNP:rs6182EnsemblClinVar. | 1 | |
Natural variantiVAR_032704 | 465 | E → K. Corresponds to variant dbSNP:rs34283856Ensembl. | 1 | |
Natural variantiVAR_013940 | 495 | P → T1 PublicationCorresponds to variant dbSNP:rs6183EnsemblClinVar. | 1 | |
Natural variantiVAR_013941 | 544 | I → L Benign variant; associated with lower plasma HDL cholesterol levels in hypercholesterolemia patients that carry a pathogenic variant in LDLR. 3 PublicationsCorresponds to variant dbSNP:rs6180EnsemblClinVar. | 1 | |
Natural variantiVAR_013942 | 579 | P → T1 PublicationCorresponds to variant dbSNP:rs6184EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_010225 | 24 | A → D in isoform 4. 1 Publication | 1 | |
Alternative sequenceiVSP_010226 | 25 – 46 | Missing in isoform 4. 1 PublicationAdd BLAST | 22 | |
Alternative sequenceiVSP_010227 | 292 – 297 | RIKMLI → SSSSKD in isoform 2. 3 Publications | 6 | |
Alternative sequenceiVSP_010229 | 292 – 294 | RIK → KEN in isoform 3. 1 Publication | 3 | |
Alternative sequenceiVSP_010230 | 295 – 638 | Missing in isoform 3. 1 PublicationAdd BLAST | 344 | |
Alternative sequenceiVSP_010228 | 298 – 638 | Missing in isoform 2. 3 PublicationsAdd BLAST | 341 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X06562 mRNA Translation: CAA29808.1 M28466 , M28458, M28459, M28460, M28461, M28462, M28463, M28464, M28465 Genomic DNA Translation: AAA52555.1 AJ278681 Genomic DNA Translation: CAC06613.1 |
CCDSi | CCDS3940.1 [P10912-1] CCDS56364.1 [P10912-4] |
PIRi | A33991 |
RefSeqi | NP_000154.1, NM_000163.4 [P10912-1] NP_001229328.1, NM_001242399.2 NP_001229329.1, NM_001242400.2 [P10912-1] NP_001229330.1, NM_001242401.3 [P10912-1] NP_001229331.1, NM_001242402.2 [P10912-1] NP_001229332.1, NM_001242403.2 [P10912-1] NP_001229333.1, NM_001242404.2 [P10912-1] NP_001229334.1, NM_001242405.2 [P10912-1] NP_001229335.1, NM_001242406.2 [P10912-1] NP_001229389.1, NM_001242460.1 [P10912-4] NP_001229391.1, NM_001242462.1 |
Genome annotation databases
Ensembli | ENST00000230882; ENSP00000230882; ENSG00000112964 ENST00000357703; ENSP00000350335; ENSG00000112964 [P10912-4] ENST00000537449; ENSP00000442206; ENSG00000112964 ENST00000612382; ENSP00000478332; ENSG00000112964 ENST00000612626; ENSP00000479846; ENSG00000112964 ENST00000615111; ENSP00000478291; ENSG00000112964 ENST00000618088; ENSP00000482373; ENSG00000112964 |
GeneIDi | 2690 |
KEGGi | hsa:2690 |
MANE-Selecti | ENST00000230882.9; ENSP00000230882.4; NM_000163.5; NP_000154.1 |
UCSCi | uc003jmt.4, human [P10912-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X06562 mRNA Translation: CAA29808.1 M28466 , M28458, M28459, M28460, M28461, M28462, M28463, M28464, M28465 Genomic DNA Translation: AAA52555.1 AJ278681 Genomic DNA Translation: CAC06613.1 |
CCDSi | CCDS3940.1 [P10912-1] CCDS56364.1 [P10912-4] |
PIRi | A33991 |
RefSeqi | NP_000154.1, NM_000163.4 [P10912-1] NP_001229328.1, NM_001242399.2 NP_001229329.1, NM_001242400.2 [P10912-1] NP_001229330.1, NM_001242401.3 [P10912-1] NP_001229331.1, NM_001242402.2 [P10912-1] NP_001229332.1, NM_001242403.2 [P10912-1] NP_001229333.1, NM_001242404.2 [P10912-1] NP_001229334.1, NM_001242405.2 [P10912-1] NP_001229335.1, NM_001242406.2 [P10912-1] NP_001229389.1, NM_001242460.1 [P10912-4] NP_001229391.1, NM_001242462.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1A22 | X-ray | 2.60 | B | 19-256 | [»] | |
1AXI | X-ray | 2.10 | B | 19-254 | [»] | |
1HWG | X-ray | 2.50 | B/C | 19-255 | [»] | |
1HWH | X-ray | 2.90 | B | 19-255 | [»] | |
1KF9 | X-ray | 2.60 | B/C/E/F | 19-256 | [»] | |
2AEW | X-ray | 2.70 | A/B | 47-251 | [»] | |
3HHR | X-ray | 2.80 | B/C | 50-254 | [»] | |
5OEK | NMR | - | A/B | 254-294 | [»] | |
5OHD | NMR | - | A/B | 254-294 | [»] | |
SMRi | P10912 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108957, 44 interactors |
DIPi | DIP-630N |
ELMi | P10912 |
IntActi | P10912, 22 interactors |
STRINGi | 9606.ENSP00000483403 |
Chemistry databases
ChEMBLi | CHEMBL1976 |
DrugBanki | DB00082, Pegvisomant DB15093, Somapacitan DB00052, Somatotropin DB09098, Somatrem |
DrugCentrali | P10912 |
PTM databases
GlyGeni | P10912, 6 sites, 1 O-linked glycan (1 site) |
iPTMneti | P10912 |
PhosphoSitePlusi | P10912 |
Genetic variation databases
BioMutai | GHR |
DMDMi | 121180 |
Proteomic databases
EPDi | P10912 |
jPOSTi | P10912 |
MassIVEi | P10912 |
PaxDbi | P10912 |
PeptideAtlasi | P10912 |
PRIDEi | P10912 |
ProteomicsDBi | 52672 [P10912-1] 52673 [P10912-2] 52674 [P10912-3] 52675 [P10912-4] |
Protocols and materials databases
Antibodypediai | 23220, 420 antibodies from 36 providers |
DNASUi | 2690 |
Genome annotation databases
Organism-specific databases
CTDi | 2690 |
DisGeNETi | 2690 |
GeneCardsi | GHR |
HGNCi | HGNC:4263, GHR |
HPAi | ENSG00000112964, Tissue enhanced (adipose tissue, liver) |
MalaCardsi | GHR |
MIMi | 143890, phenotype 262500, phenotype 600946, gene 604271, phenotype |
neXtProti | NX_P10912 |
OpenTargetsi | ENSG00000112964 |
Orphaneti | 633, Laron syndrome 314802, Short stature due to partial GHR deficiency |
PharmGKBi | PA28674 |
VEuPathDBi | HostDB:ENSG00000112964 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3555, Eukaryota |
GeneTreei | ENSGT00940000159987 |
HOGENOMi | CLU_022322_0_0_1 |
InParanoidi | P10912 |
OMAi | YCIKLTN |
OrthoDBi | 346239at2759 |
PhylomeDBi | P10912 |
TreeFami | TF330851 |
Enzyme and pathway databases
PathwayCommonsi | P10912 |
Reactomei | R-HSA-1170546, Prolactin receptor signaling R-HSA-982772, Growth hormone receptor signaling |
SignaLinki | P10912 |
SIGNORi | P10912 |
Miscellaneous databases
BioGRID-ORCSi | 2690, 6 hits in 1044 CRISPR screens |
ChiTaRSi | GHR, human |
EvolutionaryTracei | P10912 |
GeneWikii | Growth_hormone_receptor |
GenomeRNAii | 2690 |
Pharosi | P10912, Tclin |
PROi | PR:P10912 |
RNActi | P10912, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000112964, Expressed in adipose tissue and 208 other tissues |
ExpressionAtlasi | P10912, baseline and differential |
Genevisiblei | P10912, HS |
Family and domain databases
CDDi | cd00063, FN3, 1 hit |
DisProti | DP00033 |
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR036116, FN3_sf IPR025871, GHBP IPR015152, Growth/epo_recpt_lig-bind IPR013783, Ig-like_fold IPR003528, Long_hematopoietin_rcpt_CS |
Pfami | View protein in Pfam PF09067, EpoR_lig-bind, 1 hit PF00041, fn3, 1 hit PF12772, GHBP, 1 hit |
SUPFAMi | SSF49265, SSF49265, 2 hits |
PROSITEi | View protein in PROSITE PS50853, FN3, 1 hit PS01352, HEMATOPO_REC_L_F1, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GHR_HUMAN | |
Accessioni | P10912Primary (citable) accession number: P10912 Secondary accession number(s): Q9HCX2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1989 |
Last sequence update: | July 1, 1989 | |
Last modified: | February 23, 2022 | |
This is version 234 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families