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Protein

Growth hormone-releasing hormone receptor

Gene

GHRHR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.

GO - Molecular functioni

  • G-protein coupled receptor activity Source: BHF-UCL
  • growth factor binding Source: BHF-UCL
  • growth hormone-releasing hormone receptor activity Source: BHF-UCL
  • peptide hormone binding Source: BHF-UCL

GO - Biological processi

  • activation of adenylate cyclase activity Source: Ensembl
  • adenylate cyclase-activating G-protein coupled receptor signaling pathway Source: BHF-UCL
  • cAMP-mediated signaling Source: BHF-UCL
  • cell maturation Source: Ensembl
  • cell surface receptor signaling pathway Source: InterPro
  • cellular response to glucose stimulus Source: Ensembl
  • cellular response to insulin stimulus Source: Ensembl
  • determination of adult lifespan Source: Ensembl
  • growth hormone secretion Source: Ensembl
  • hormone metabolic process Source: Ensembl
  • lactation Source: Ensembl
  • multicellular organismal reproductive process Source: BHF-UCL
  • positive regulation of cAMP biosynthetic process Source: BHF-UCL
  • positive regulation of cell proliferation Source: BHF-UCL
  • positive regulation of circadian sleep/wake cycle, non-REM sleep Source: Ensembl
  • positive regulation of growth hormone secretion Source: BHF-UCL
  • positive regulation of insulin-like growth factor receptor signaling pathway Source: BHF-UCL
  • positive regulation of multicellular organism growth Source: BHF-UCL
  • regulation of intracellular steroid hormone receptor signaling pathway Source: Ensembl
  • regulation of protein metabolic process Source: Ensembl
  • response to estrogen Source: BHF-UCL
  • response to glucocorticoid Source: BHF-UCL
  • response to insulin Source: BHF-UCL
  • somatotropin secreting cell development Source: Ensembl
  • water homeostasis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

BioCyciZFISH:ENSG00000106128-MONOMER.
ReactomeiR-HSA-418555. G alpha (s) signalling events.
R-HSA-420092. Glucagon-type ligand receptors.

Protein family/group databases

TCDBi9.A.14.4.7. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Growth hormone-releasing hormone receptor
Short name:
GHRH receptor
Alternative name(s):
Growth hormone-releasing factor receptor
Short name:
GRF receptor
Short name:
GRFR
Gene namesi
Name:GHRHR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:4266. GHRHR.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 132ExtracellularSequence analysisAdd BLAST110
Transmembranei133 – 152Helical; Name=1Sequence analysisAdd BLAST20
Topological domaini153 – 162CytoplasmicSequence analysis10
Transmembranei163 – 181Helical; Name=2Sequence analysisAdd BLAST19
Topological domaini182 – 204ExtracellularSequence analysisAdd BLAST23
Transmembranei205 – 227Helical; Name=3Sequence analysisAdd BLAST23
Topological domaini228 – 240CytoplasmicSequence analysisAdd BLAST13
Transmembranei241 – 262Helical; Name=4Sequence analysisAdd BLAST22
Topological domaini263 – 280ExtracellularSequence analysisAdd BLAST18
Transmembranei281 – 304Helical; Name=5Sequence analysisAdd BLAST24
Topological domaini305 – 329CytoplasmicSequence analysisAdd BLAST25
Transmembranei330 – 348Helical; Name=6Sequence analysisAdd BLAST19
Topological domaini349 – 361ExtracellularSequence analysisAdd BLAST13
Transmembranei362 – 381Helical; Name=7Sequence analysisAdd BLAST20
Topological domaini382 – 423CytoplasmicSequence analysisAdd BLAST42

GO - Cellular componenti

  • cell surface Source: BHF-UCL
  • cytoplasm Source: BHF-UCL
  • integral component of membrane Source: BHF-UCL
  • nuclear inner membrane Source: BHF-UCL
  • nuclear matrix Source: BHF-UCL
  • nuclear outer membrane Source: BHF-UCL
  • plasma membrane Source: BHF-UCL
  • sarcolemma Source: Ensembl
  • secretory granule Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Growth hormone deficiency, isolated, 1B (IGHD1B)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy.
See also OMIM:612781
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015796144L → H in IGHD1B. 1 PublicationCorresponds to variant rs121918118dbSNPEnsembl.1
Natural variantiVAR_015797176A → V in IGHD1B; reduced cAMP response to GHRH. 1 PublicationCorresponds to variant rs774281185dbSNPEnsembl.1
Natural variantiVAR_015798222A → E in IGHD1B. 1 PublicationCorresponds to variant rs121918120dbSNPEnsembl.1
Natural variantiVAR_015799242F → C in IGHD1B. 1 PublicationCorresponds to variant rs121918119dbSNPEnsembl.1
Natural variantiVAR_015800329K → E in IGHD1B. 1 PublicationCorresponds to variant rs121918121dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi2692.
MalaCardsiGHRHR.
MIMi612781. phenotype.
OpenTargetsiENSG00000106128.
Orphaneti231671. Isolated growth hormone deficiency type IB.
PharmGKBiPA28676.

Chemistry databases

ChEMBLiCHEMBL2032.
DrugBankiDB00010. Sermorelin.
DB08869. Tesamorelin.
GuidetoPHARMACOLOGYi247.

Polymorphism and mutation databases

BioMutaiGHRHR.
DMDMi3041685.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000001282823 – 423Growth hormone-releasing hormone receptorAdd BLAST401

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi41 ↔ 641 Publication
Glycosylationi50N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi55 ↔ 961 Publication
Disulfide bondi78 ↔ 1121 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ02643.
PRIDEiQ02643.

PTM databases

PhosphoSitePlusiQ02643.

Expressioni

Tissue specificityi

Pituitary gland.

Gene expression databases

BgeeiENSG00000106128.
CleanExiHS_GHRHR.
ExpressionAtlasiQ02643. baseline and differential.
GenevisibleiQ02643. HS.

Organism-specific databases

HPAiCAB012175.

Interactioni

GO - Molecular functioni

  • growth factor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi108959. 1 interactor.
STRINGi9606.ENSP00000320180.

Chemistry databases

BindingDBiQ02643.

Structurei

Secondary structure

1423
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi34 – 45Combined sources12
Beta strandi53 – 55Combined sources3
Beta strandi72 – 76Combined sources5
Helixi80 – 84Combined sources5
Beta strandi92 – 97Combined sources6
Helixi108 – 111Combined sources4
Helixi116 – 119Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XDGX-ray1.95A/B34-123[»]
ProteinModelPortaliQ02643.
SMRiQ02643.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ02643.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4564. Eukaryota.
ENOG410XRS2. LUCA.
GeneTreeiENSGT00760000118800.
HOGENOMiHOG000008249.
HOVERGENiHBG008318.
InParanoidiQ02643.
KOiK04584.
OMAiIHYIIFN.
OrthoDBiEOG091G0NF8.
PhylomeDBiQ02643.
TreeFamiTF315710.

Family and domain databases

InterProiIPR017981. GPCR_2-like.
IPR001879. GPCR_2_extracellular_dom.
IPR003288. GPCR_2_GHRH_rcpt.
IPR000832. GPCR_2_secretin-like.
IPR017983. GPCR_2_secretin-like_CS.
[Graphical view]
PfamiPF00002. 7tm_2. 1 hit.
PF02793. HRM. 1 hit.
[Graphical view]
PRINTSiPR01352. GHRHRECEPTOR.
PR00249. GPCRSECRETIN.
SMARTiSM00008. HormR. 1 hit.
[Graphical view]
PROSITEiPS00649. G_PROTEIN_RECEP_F2_1. 1 hit.
PS00650. G_PROTEIN_RECEP_F2_2. 1 hit.
PS50227. G_PROTEIN_RECEP_F2_3. 1 hit.
PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q02643-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDRRMWGAHV FCVLSPLPTV LGHMHPECDF ITQLREDESA CLQAAEEMPN
60 70 80 90 100
TTLGCPATWD GLLCWPTAGS GEWVTLPCPD FFSHFSSESG AVKRDCTITG
110 120 130 140 150
WSEPFPPYPV ACPVPLELLA EEESYFSTVK IIYTVGHSIS IVALFVAITI
160 170 180 190 200
LVALRRLHCP RNYVHTQLFT TFILKAGAVF LKDAALFHSD DTDHCSFSTV
210 220 230 240 250
LCKVSVAASH FATMTNFSWL LAEAVYLNCL LASTSPSSRR AFWWLVLAGW
260 270 280 290 300
GLPVLFTGTW VSCKLAFEDI ACWDLDDTSP YWWIIKGPIV LSVGVNFGLF
310 320 330 340 350
LNIIRILVRK LEPAQGSLHT QSQYWRLSKS TLFLIPLFGI HYIIFNFLPD
360 370 380 390 400
NAGLGIRLPL ELGLGSFQGF IVAILYCFLN QEVRTEISRK WHGHDPELLP
410 420
AWRTRAKWTT PSRSAAKVLT SMC
Length:423
Mass (Da):47,402
Last modified:July 15, 1998 - v2
Checksum:iC9C5E2E7D6649E06
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti178A → R in AAA35890 (PubMed:1333056).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03622345A → T in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_03396257A → T.Corresponds to variant rs4988496dbSNPEnsembl.1
Natural variantiVAR_033963121E → D.Corresponds to variant rs4988498dbSNPEnsembl.1
Natural variantiVAR_015796144L → H in IGHD1B. 1 PublicationCorresponds to variant rs121918118dbSNPEnsembl.1
Natural variantiVAR_015797176A → V in IGHD1B; reduced cAMP response to GHRH. 1 PublicationCorresponds to variant rs774281185dbSNPEnsembl.1
Natural variantiVAR_015798222A → E in IGHD1B. 1 PublicationCorresponds to variant rs121918120dbSNPEnsembl.1
Natural variantiVAR_033964225V → I.Corresponds to variant rs28371560dbSNPEnsembl.1
Natural variantiVAR_015799242F → C in IGHD1B. 1 PublicationCorresponds to variant rs121918119dbSNPEnsembl.1
Natural variantiVAR_015800329K → E in IGHD1B. 1 PublicationCorresponds to variant rs121918121dbSNPEnsembl.1
Natural variantiVAR_033965422M → T.Corresponds to variant rs2228078dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L01406 mRNA. Translation: AAA35890.1.
L09237 mRNA. Translation: AAA58619.1.
AB065701 Genomic DNA. Translation: BAC05924.1.
AY557192 mRNA. Translation: AAS59864.1.
AC005155 Genomic DNA. Translation: AAC23789.1.
U42225
, U42222, U42223, U42224 Genomic DNA. Translation: AAB37758.1.
CCDSiCCDS5432.1.
PIRiA45363.
RefSeqiNP_000814.2. NM_000823.3.
UniGeneiHs.733003.
Hs.767.

Genome annotation databases

EnsembliENST00000326139; ENSP00000320180; ENSG00000106128.
GeneIDi2692.
KEGGihsa:2692.
UCSCiuc003tbx.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L01406 mRNA. Translation: AAA35890.1.
L09237 mRNA. Translation: AAA58619.1.
AB065701 Genomic DNA. Translation: BAC05924.1.
AY557192 mRNA. Translation: AAS59864.1.
AC005155 Genomic DNA. Translation: AAC23789.1.
U42225
, U42222, U42223, U42224 Genomic DNA. Translation: AAB37758.1.
CCDSiCCDS5432.1.
PIRiA45363.
RefSeqiNP_000814.2. NM_000823.3.
UniGeneiHs.733003.
Hs.767.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XDGX-ray1.95A/B34-123[»]
ProteinModelPortaliQ02643.
SMRiQ02643.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108959. 1 interactor.
STRINGi9606.ENSP00000320180.

Chemistry databases

BindingDBiQ02643.
ChEMBLiCHEMBL2032.
DrugBankiDB00010. Sermorelin.
DB08869. Tesamorelin.
GuidetoPHARMACOLOGYi247.

Protein family/group databases

TCDBi9.A.14.4.7. the g-protein-coupled receptor (gpcr) family.
GPCRDBiSearch...

PTM databases

PhosphoSitePlusiQ02643.

Polymorphism and mutation databases

BioMutaiGHRHR.
DMDMi3041685.

Proteomic databases

PaxDbiQ02643.
PRIDEiQ02643.

Protocols and materials databases

DNASUi2692.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326139; ENSP00000320180; ENSG00000106128.
GeneIDi2692.
KEGGihsa:2692.
UCSCiuc003tbx.4. human.

Organism-specific databases

CTDi2692.
DisGeNETi2692.
GeneCardsiGHRHR.
HGNCiHGNC:4266. GHRHR.
HPAiCAB012175.
MalaCardsiGHRHR.
MIMi139191. gene.
612781. phenotype.
neXtProtiNX_Q02643.
OpenTargetsiENSG00000106128.
Orphaneti231671. Isolated growth hormone deficiency type IB.
PharmGKBiPA28676.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4564. Eukaryota.
ENOG410XRS2. LUCA.
GeneTreeiENSGT00760000118800.
HOGENOMiHOG000008249.
HOVERGENiHBG008318.
InParanoidiQ02643.
KOiK04584.
OMAiIHYIIFN.
OrthoDBiEOG091G0NF8.
PhylomeDBiQ02643.
TreeFamiTF315710.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000106128-MONOMER.
ReactomeiR-HSA-418555. G alpha (s) signalling events.
R-HSA-420092. Glucagon-type ligand receptors.

Miscellaneous databases

EvolutionaryTraceiQ02643.
GeneWikiiGrowth-hormone-releasing_hormone_receptor.
Growth_hormone-releasing_hormone_receptor.
GenomeRNAii2692.
PROiQ02643.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106128.
CleanExiHS_GHRHR.
ExpressionAtlasiQ02643. baseline and differential.
GenevisibleiQ02643. HS.

Family and domain databases

InterProiIPR017981. GPCR_2-like.
IPR001879. GPCR_2_extracellular_dom.
IPR003288. GPCR_2_GHRH_rcpt.
IPR000832. GPCR_2_secretin-like.
IPR017983. GPCR_2_secretin-like_CS.
[Graphical view]
PfamiPF00002. 7tm_2. 1 hit.
PF02793. HRM. 1 hit.
[Graphical view]
PRINTSiPR01352. GHRHRECEPTOR.
PR00249. GPCRSECRETIN.
SMARTiSM00008. HormR. 1 hit.
[Graphical view]
PROSITEiPS00649. G_PROTEIN_RECEP_F2_1. 1 hit.
PS00650. G_PROTEIN_RECEP_F2_2. 1 hit.
PS50227. G_PROTEIN_RECEP_F2_3. 1 hit.
PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGHRHR_HUMAN
AccessioniPrimary (citable) accession number: Q02643
Secondary accession number(s): Q99863
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: July 15, 1998
Last modified: November 2, 2016
This is version 157 of the entry and version 2 of the sequence. [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, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.