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Protein

Growth hormone-releasing hormone receptor

Gene

GHRHR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000106128.18
HGNCiHGNC:4266 GHRHR
MIMi139191 gene
neXtProtiNX_Q02643

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 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

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 dbSNP:rs121918118EnsemblClinVar.1
Natural variantiVAR_015797176A → V in IGHD1B; reduced cAMP response to GHRH. 1 PublicationCorresponds to variant dbSNP:rs774281185Ensembl.1
Natural variantiVAR_015798222A → E in IGHD1B. 1 PublicationCorresponds to variant dbSNP:rs121918120EnsemblClinVar.1
Natural variantiVAR_015799242F → C in IGHD1B. 1 PublicationCorresponds to variant dbSNP:rs121918119EnsemblClinVar.1
Natural variantiVAR_015800329K → E in IGHD1B. 1 PublicationCorresponds to variant dbSNP:rs121918121EnsemblClinVar.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...) asparagineSequence analysis1
Disulfide bondi55 ↔ 961 Publication
Disulfide bondi78 ↔ 1121 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ02643
PeptideAtlasiQ02643
PRIDEiQ02643
ProteomicsDBi58116

PTM databases

PhosphoSitePlusiQ02643

Expressioni

Tissue specificityi

Pituitary gland.

Gene expression databases

BgeeiENSG00000106128 Expressed in 71 organ(s), highest expression level in adenohypophysis
CleanExiHS_GHRHR
ExpressionAtlasiQ02643 baseline and differential
GenevisibleiQ02643 HS

Interactioni

GO - Molecular functioni

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

3D structure databases

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
OMAiFLNQEVR
OrthoDBiEOG091G0NF8
PhylomeDBiQ02643
TreeFamiTF315710

Family and domain databases

Gene3Di4.10.1240.10, 1 hit
InterProiView protein in InterPro
IPR017981 GPCR_2-like
IPR036445 GPCR_2_extracell_dom_sf
IPR001879 GPCR_2_extracellular_dom
IPR003288 GPCR_2_GHRH_rcpt
IPR000832 GPCR_2_secretin-like
IPR017983 GPCR_2_secretin-like_CS
PANTHERiPTHR12011:SF209 PTHR12011:SF209, 1 hit
PfamiView protein in Pfam
PF00002 7tm_2, 1 hit
PF02793 HRM, 1 hit
PRINTSiPR01352 GHRHRECEPTOR
PR00249 GPCRSECRETIN
SMARTiView protein in SMART
SM00008 HormR, 1 hit
SUPFAMiSSF111418 SSF111418, 1 hit
PROSITEiView protein in PROSITE
PS00649 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

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q9HB45Q9HB45_HUMAN
GHRH receptor splice variant 1
GHRHR hCG_37325
359Annotation score:
Q9HB44Q9HB44_HUMAN
GHRH receptor splice variant 2
GHRHR
145Annotation score:
Q9HB42Q9HB42_HUMAN
GHRH receptor splice variant 4
GHRHR hCG_37325
68Annotation score:
Q9HB43Q9HB43_HUMAN
GHRH receptor splice variant 3
GHRHR hCG_37325
151Annotation score:
Q8N6C4Q8N6C4_HUMAN
Growth hormone releasing hormone re...
GHRHR GHRHRpsv
207Annotation score:

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 dbSNP:rs4988496EnsemblClinVar.1
Natural variantiVAR_033963121E → D. Corresponds to variant dbSNP:rs4988498EnsemblClinVar.1
Natural variantiVAR_015796144L → H in IGHD1B. 1 PublicationCorresponds to variant dbSNP:rs121918118EnsemblClinVar.1
Natural variantiVAR_015797176A → V in IGHD1B; reduced cAMP response to GHRH. 1 PublicationCorresponds to variant dbSNP:rs774281185Ensembl.1
Natural variantiVAR_015798222A → E in IGHD1B. 1 PublicationCorresponds to variant dbSNP:rs121918120EnsemblClinVar.1
Natural variantiVAR_033964225V → I. Corresponds to variant dbSNP:rs28371560EnsemblClinVar.1
Natural variantiVAR_015799242F → C in IGHD1B. 1 PublicationCorresponds to variant dbSNP:rs121918119EnsemblClinVar.1
Natural variantiVAR_015800329K → E in IGHD1B. 1 PublicationCorresponds to variant dbSNP:rs121918121EnsemblClinVar.1
Natural variantiVAR_033965422M → T. Corresponds to variant dbSNP:rs2228078EnsemblClinVar.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

Similar proteinsi

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
PeptideAtlasiQ02643
PRIDEiQ02643
ProteomicsDBi58116

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
EuPathDBiHostDB:ENSG00000106128.18
GeneCardsiGHRHR
HGNCiHGNC:4266 GHRHR
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
OMAiFLNQEVR
OrthoDBiEOG091G0NF8
PhylomeDBiQ02643
TreeFamiTF315710

Enzyme and pathway databases

ReactomeiR-HSA-418555 G alpha (s) signalling events
R-HSA-420092 Glucagon-type ligand receptors

Miscellaneous databases

ChiTaRSiGHRHR human
EvolutionaryTraceiQ02643
GeneWikiiGrowth-hormone-releasing_hormone_receptor
Growth_hormone-releasing_hormone_receptor
GenomeRNAii2692
PROiPR:Q02643
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106128 Expressed in 71 organ(s), highest expression level in adenohypophysis
CleanExiHS_GHRHR
ExpressionAtlasiQ02643 baseline and differential
GenevisibleiQ02643 HS

Family and domain databases

Gene3Di4.10.1240.10, 1 hit
InterProiView protein in InterPro
IPR017981 GPCR_2-like
IPR036445 GPCR_2_extracell_dom_sf
IPR001879 GPCR_2_extracellular_dom
IPR003288 GPCR_2_GHRH_rcpt
IPR000832 GPCR_2_secretin-like
IPR017983 GPCR_2_secretin-like_CS
PANTHERiPTHR12011:SF209 PTHR12011:SF209, 1 hit
PfamiView protein in Pfam
PF00002 7tm_2, 1 hit
PF02793 HRM, 1 hit
PRINTSiPR01352 GHRHRECEPTOR
PR00249 GPCRSECRETIN
SMARTiView protein in SMART
SM00008 HormR, 1 hit
SUPFAMiSSF111418 SSF111418, 1 hit
PROSITEiView protein in PROSITE
PS00649 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
ProtoNetiSearch...

Entry informationi

Entry nameiGHRHR_HUMAN
AccessioniPrimary (citable) accession number: Q02643
Secondary accession number(s): Q99863
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: July 15, 1998
Last modified: September 12, 2018
This is version 168 of the entry and version 2 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, Reference proteome

Documents

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