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UniProtKB - P10912 (GHR_HUMAN)

Protein

Growth hormone receptor

Gene

GHR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 similarity
The 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 keyPosition(s)DescriptionActionsGraphical viewLength
Sitei345Required for endocytosis and down-regulationBy similarity1

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionReceptor
Biological processEndocytosis

Enzyme and pathway databases

ReactomeiR-HSA-1170546 Prolactin receptor signaling
R-HSA-982772 Growth hormone receptor signaling
SignaLinkiP10912
SIGNORiP10912

Names & Taxonomyi

Protein namesi
Recommended name:
Growth hormone receptor
Short name:
GH receptor
Alternative name(s):
Somatotropin receptor
Cleaved into the following chain:
Growth hormone-binding protein
Short name:
GH-binding protein
Short name:
GHBP
Alternative name(s):
Serum-binding protein
Gene namesi
Name:GHR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000112964.13
HGNCiHGNC:4263 GHR
MIMi600946 gene
neXtProtiNX_P10912

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 264ExtracellularSequence analysisAdd BLAST246
Transmembranei265 – 288HelicalSequence analysisAdd BLAST24
Topological domaini289 – 638CytoplasmicSequence analysisAdd BLAST350

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Laron syndrome (LARS)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:262500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01842656C → S in LARS. 1 Publication1
Natural variantiVAR_01842758S → L in LARS. 1 Publication1
Natural variantiVAR_01842868W → R in LARS. 1 Publication1
Natural variantiVAR_00270989R → K in LARS. 1 Publication1
Natural variantiVAR_002710114F → S in LARS; loss of ability to bind ligand. 2 PublicationsCorresponds to variant dbSNP:rs121909357EnsemblClinVar.1
Natural variantiVAR_002711143V → A in LARS. 1
Natural variantiVAR_018429149P → Q in LARS; disrupts GH binding. 2 PublicationsCorresponds to variant dbSNP:rs121909365EnsemblClinVar.1
Natural variantiVAR_002712162V → D in LARS. 1 Publication1
Natural variantiVAR_002713170D → H in LARS; abolishes receptor homodimerization. 2 PublicationsCorresponds to variant dbSNP:rs121909366EnsemblClinVar.1
Natural variantiVAR_018431171I → 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_018432172Q → P in LARS; almost completely abolishes GH-binding at cell surface and in membrane fractions. 1 PublicationCorresponds to variant dbSNP:rs121909368EnsemblClinVar.1
Natural variantiVAR_018433173V → 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_018434226Y → C in LARS. 1 Publication1
Natural variantiVAR_002715229R → G in LARS. 1 Publication1
Natural variantiVAR_018435244S → I in LARS. 1 PublicationCorresponds to variant dbSNP:rs1164396446Ensembl.1
Natural variantiVAR_018436262D → N in LARS. 1 Publication1
Growth hormone insensitivity, partial (GHIP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:604271
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00270862E → K in GHIP. 1 PublicationCorresponds to variant dbSNP:rs121909361EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi260E → A: No change in shedding activity: No change in hormone binding. 1 Publication1
Mutagenesisi261E → A: No change in shedding activity: No change in hormone binding. 1 Publication1
Mutagenesisi262D → A: No change in shedding activity: No change in hormone binding. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi2690
MalaCardsiGHR
MIMi143890 phenotype
262500 phenotype
604271 phenotype
OpenTargetsiENSG00000112964
Orphaneti633 Laron syndrome
314802 Short stature due to partial GHR deficiency
PharmGKBiPA28674

Chemistry databases

ChEMBLiCHEMBL1976
DrugBankiDB00082 Pegvisomant
DB00052 Somatropin recombinant

Polymorphism and mutation databases

BioMutaiGHR
DMDMi121180

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000001095719 – 638Growth hormone receptorAdd BLAST620
ChainiPRO_000001095819 – 256Growth hormone-binding proteinBy similarityAdd BLAST238

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi46N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi56 ↔ 661 Publication
Disulfide bondi101 ↔ 1121 Publication
Glycosylationi115N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi126 ↔ 1401 Publication
Glycosylationi156N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi161N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi200N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei341PhosphoserineCombined sources1

Post-translational modificationi

The soluble form (GHBP) is produced by phorbol ester-promoted proteolytic cleavage at the cell surface (shedding) by ADAM17/TACE. 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).By similarity
On GH binding, phosphorylated on tyrosine residues in the cytoplasmic domain by JAK2.By similarity
On ligand binding, ubiquitinated on lysine residues in the cytoplasmic domain. This ubiquitination is not sufficient for GHR internalization (By similarity).By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP10912
PaxDbiP10912
PeptideAtlasiP10912
PRIDEiP10912
ProteomicsDBi52672
52673 [P10912-2]
52674 [P10912-3]
52675 [P10912-4]

PTM databases

iPTMnetiP10912
PhosphoSitePlusiP10912

Miscellaneous databases

PMAP-CutDBiP10912

Expressioni

Tissue specificityi

Expressed in various tissues with high expression in liver and skeletal muscle. Isoform 4 is predominantly expressed in kidney, bladder, adrenal gland and brain stem. Isoform 1 expression in placenta is predominant in chorion and decidua. Isoform 4 is highly expressed in placental villi. Isoform 2 is expressed in lung, stomach and muscle. Low levels in liver.

Gene expression databases

BgeeiENSG00000112964 Expressed in 192 organ(s), highest expression level in adipose tissue
CleanExiHS_GHR
ExpressionAtlasiP10912 baseline and differential
GenevisibleiP10912 HS

Organism-specific databases

HPAiHPA045339
HPA057705

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 similarity

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108957, 42 interactors
DIPiDIP-630N
ELMiP10912
IntActiP10912, 22 interactors
STRINGi9606.ENSP00000230882

Structurei

Secondary structure

1638
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00033
ProteinModelPortaliP10912
SMRiP10912
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP10912

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini151 – 254Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST104

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni260 – 262Required for ADAM17-mediated proteolysisBy similarity3

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi240 – 244WSXWS motif5
Motifi297 – 305Box 1 motif9
Motifi340 – 349UbE motif10

Domaini

The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
The box 1 motif is required for JAK interaction and/or activation.
The extracellular domain is the ligand-binding domain representing the growth hormone-binding protein (GHBP).
The ubiquitination-dependent endocytosis motif (UbE) is required for recruitment of the ubiquitin conjugation system on to the receptor and for its internalization.

Sequence similaritiesi

Belongs to the type I cytokine receptor family. Type 1 subfamily.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFQI Eukaryota
ENOG410XTHJ LUCA
GeneTreeiENSGT00530000063112
HOGENOMiHOG000015773
HOVERGENiHBG005836
InParanoidiP10912
KOiK05080
PhylomeDBiP10912
TreeFamiTF330851

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 2 hits
InterProiView 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
PfamiView protein in Pfam
PF09067 EpoR_lig-bind, 1 hit
PF00041 fn3, 1 hit
PF12772 GHBP, 1 hit
SUPFAMiSSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS01352 HEMATOPO_REC_L_F1, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P10912-1) [UniParc]FASTAAdd to basket
Also known as: GHRfl

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:638
Mass (Da):71,500
Last modified:July 1, 1989 - v1
Checksum:iEAF77EADE4787822
GO
Isoform 2 (identifier: P10912-2) [UniParc]FASTAAdd to basket
Also known as: GHRtr, GHR1-279

The sequence of this isoform differs from the canonical sequence as follows:
     292-297: RIKMLI → SSSSKD
     298-638: Missing.

Show »
Length:297
Mass (Da):34,109
Checksum:iF690295F6BB01AC8
GO
Isoform 3 (identifier: P10912-3) [UniParc]FASTAAdd to basket
Also known as: GHR1-277

The sequence of this isoform differs from the canonical sequence as follows:
     292-294: RIK → KEN
     295-638: Missing.

Show »
Length:294
Mass (Da):33,889
Checksum:i0E85069AC8F6FDBF
GO
Isoform 4 (identifier: P10912-4) [UniParc]FASTAAdd to basket
Also known as: GHRd3

The sequence of this isoform differs from the canonical sequence as follows:
     24-24: A → D
     25-46: Missing.

Note: Arises by species-specific retrovirus-mediated alternative splice mimicry.
Show »
Length:616
Mass (Da):69,237
Checksum:i5F12CD731F49E1F1
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X0H5A0A087X0H5_HUMAN
Growth hormone receptor
GHR
645Annotation score:
A0A087X162A0A087X162_HUMAN
Growth hormone receptor
GHR
295Annotation score:
E9PCN7E9PCN7_HUMAN
Growth hormone receptor
GHR
62Annotation score:
E7ES05E7ES05_HUMAN
Growth hormone receptor
GHR
85Annotation score:

Polymorphismi

Genetic variation in GHR may act as phenotype modifier in familial hypercholesterolemia [MIMi:143890] patients carrying a mutation in the LDLR gene.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01842656C → S in LARS. 1 Publication1
Natural variantiVAR_01842758S → L in LARS. 1 Publication1
Natural variantiVAR_00270862E → K in GHIP. 1 PublicationCorresponds to variant dbSNP:rs121909361EnsemblClinVar.1
Natural variantiVAR_01842868W → R in LARS. 1 Publication1
Natural variantiVAR_00270989R → K in LARS. 1 Publication1
Natural variantiVAR_002710114F → S in LARS; loss of ability to bind ligand. 2 PublicationsCorresponds to variant dbSNP:rs121909357EnsemblClinVar.1
Natural variantiVAR_002711143V → A in LARS. 1
Natural variantiVAR_018429149P → Q in LARS; disrupts GH binding. 2 PublicationsCorresponds to variant dbSNP:rs121909365EnsemblClinVar.1
Natural variantiVAR_002712162V → D in LARS. 1 Publication1
Natural variantiVAR_020002162V → F. Corresponds to variant dbSNP:rs6413484EnsemblClinVar.1
Natural variantiVAR_018430162V → I Found in a patient with idiopathic short stature; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs6413484EnsemblClinVar.1
Natural variantiVAR_002713170D → H in LARS; abolishes receptor homodimerization. 2 PublicationsCorresponds to variant dbSNP:rs121909366EnsemblClinVar.1
Natural variantiVAR_018431171I → 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_018432172Q → P in LARS; almost completely abolishes GH-binding at cell surface and in membrane fractions. 1 PublicationCorresponds to variant dbSNP:rs121909368EnsemblClinVar.1
Natural variantiVAR_018433173V → 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_002714179R → C in LARS and GHIP. 2 PublicationsCorresponds to variant dbSNP:rs121909362EnsemblClinVar.1
Natural variantiVAR_013937179R → H1 PublicationCorresponds to variant dbSNP:rs6181Ensembl.1
Natural variantiVAR_018434226Y → C in LARS. 1 Publication1
Natural variantiVAR_002715229R → G in LARS. 1 Publication1
Natural variantiVAR_013938229R → H Found in a patient with idiopathic short stature; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs6177EnsemblClinVar.1
Natural variantiVAR_002716242E → D Found in a patient with idiopathic short stature; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45588036EnsemblClinVar.1
Natural variantiVAR_018435244S → I in LARS. 1 PublicationCorresponds to variant dbSNP:rs1164396446Ensembl.1
Natural variantiVAR_018436262D → N in LARS. 1 Publication1
Natural variantiVAR_013939440C → F2 PublicationsCorresponds to variant dbSNP:rs6182EnsemblClinVar.1
Natural variantiVAR_032704465E → K. Corresponds to variant dbSNP:rs34283856Ensembl.1
Natural variantiVAR_013940495P → T1 PublicationCorresponds to variant dbSNP:rs6183EnsemblClinVar.1
Natural variantiVAR_013941544I → L Polymorphism with a modifier effect on plasma HDL cholesterol levels in familial hypercholesterolemia patients. 3 PublicationsCorresponds to variant dbSNP:rs6180EnsemblClinVar.1
Natural variantiVAR_013942579P → T1 PublicationCorresponds to variant dbSNP:rs6184EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01022524A → D in isoform 4. 1 Publication1
Alternative sequenceiVSP_01022625 – 46Missing in isoform 4. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_010227292 – 297RIKMLI → SSSSKD in isoform 2. 3 Publications6
Alternative sequenceiVSP_010229292 – 294RIK → KEN in isoform 3. 1 Publication3
Alternative sequenceiVSP_010230295 – 638Missing in isoform 3. 1 PublicationAdd BLAST344
Alternative sequenceiVSP_010228298 – 638Missing in isoform 2. 3 PublicationsAdd BLAST341

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
CCDSiCCDS3940.1 [P10912-1]
CCDS56364.1 [P10912-4]
PIRiA33991
RefSeqiNP_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
UniGeneiHs.125180
Hs.684632
Hs.688223

Genome annotation databases

EnsembliENST00000230882; ENSP00000230882; ENSG00000112964 [P10912-1]
ENST00000357703; ENSP00000350335; ENSG00000112964 [P10912-4]
ENST00000537449; ENSP00000442206; ENSG00000112964 [P10912-1]
ENST00000612382; ENSP00000478332; ENSG00000112964 [P10912-1]
ENST00000612626; ENSP00000479846; ENSG00000112964 [P10912-1]
ENST00000615111; ENSP00000478291; ENSG00000112964 [P10912-1]
ENST00000618088; ENSP00000482373; ENSG00000112964 [P10912-1]
GeneIDi2690
KEGGihsa:2690
UCSCiuc003jmt.4 human [P10912-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS3940.1 [P10912-1]
CCDS56364.1 [P10912-4]
PIRiA33991
RefSeqiNP_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
UniGeneiHs.125180
Hs.684632
Hs.688223

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A22X-ray2.60B19-256[»]
1AXIX-ray2.10B19-254[»]
1HWGX-ray2.50B/C19-255[»]
1HWHX-ray2.90B19-255[»]
1KF9X-ray2.60B/C/E/F19-256[»]
2AEWX-ray2.70A/B47-251[»]
3HHRX-ray2.80B/C50-254[»]
5OEKNMR-A/B254-294[»]
5OHDNMR-A/B254-294[»]
DisProtiDP00033
ProteinModelPortaliP10912
SMRiP10912
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108957, 42 interactors
DIPiDIP-630N
ELMiP10912
IntActiP10912, 22 interactors
STRINGi9606.ENSP00000230882

Chemistry databases

ChEMBLiCHEMBL1976
DrugBankiDB00082 Pegvisomant
DB00052 Somatropin recombinant

PTM databases

iPTMnetiP10912
PhosphoSitePlusiP10912

Polymorphism and mutation databases

BioMutaiGHR
DMDMi121180

Proteomic databases

EPDiP10912
PaxDbiP10912
PeptideAtlasiP10912
PRIDEiP10912
ProteomicsDBi52672
52673 [P10912-2]
52674 [P10912-3]
52675 [P10912-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000230882; ENSP00000230882; ENSG00000112964 [P10912-1]
ENST00000357703; ENSP00000350335; ENSG00000112964 [P10912-4]
ENST00000537449; ENSP00000442206; ENSG00000112964 [P10912-1]
ENST00000612382; ENSP00000478332; ENSG00000112964 [P10912-1]
ENST00000612626; ENSP00000479846; ENSG00000112964 [P10912-1]
ENST00000615111; ENSP00000478291; ENSG00000112964 [P10912-1]
ENST00000618088; ENSP00000482373; ENSG00000112964 [P10912-1]
GeneIDi2690
KEGGihsa:2690
UCSCiuc003jmt.4 human [P10912-1]

Organism-specific databases

CTDi2690
DisGeNETi2690
EuPathDBiHostDB:ENSG00000112964.13
GeneCardsiGHR
HGNCiHGNC:4263 GHR
HPAiHPA045339
HPA057705
MalaCardsiGHR
MIMi143890 phenotype
262500 phenotype
600946 gene
604271 phenotype
neXtProtiNX_P10912
OpenTargetsiENSG00000112964
Orphaneti633 Laron syndrome
314802 Short stature due to partial GHR deficiency
PharmGKBiPA28674
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFQI Eukaryota
ENOG410XTHJ LUCA
GeneTreeiENSGT00530000063112
HOGENOMiHOG000015773
HOVERGENiHBG005836
InParanoidiP10912
KOiK05080
PhylomeDBiP10912
TreeFamiTF330851

Enzyme and pathway databases

ReactomeiR-HSA-1170546 Prolactin receptor signaling
R-HSA-982772 Growth hormone receptor signaling
SignaLinkiP10912
SIGNORiP10912

Miscellaneous databases

ChiTaRSiGHR human
EvolutionaryTraceiP10912
GeneWikiiGrowth_hormone_receptor
GenomeRNAii2690
PMAP-CutDBiP10912
PROiPR:P10912
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112964 Expressed in 192 organ(s), highest expression level in adipose tissue
CleanExiHS_GHR
ExpressionAtlasiP10912 baseline and differential
GenevisibleiP10912 HS

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 2 hits
InterProiView 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
PfamiView protein in Pfam
PF09067 EpoR_lig-bind, 1 hit
PF00041 fn3, 1 hit
PF12772 GHBP, 1 hit
SUPFAMiSSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS01352 HEMATOPO_REC_L_F1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGHR_HUMAN
AccessioniPrimary (citable) accession number: P10912
Secondary accession number(s): Q9HCX2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 1, 1989
Last modified: November 7, 2018
This is version 214 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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