Human Gene GHSR (ENST00000241256.3_7) from GENCODE V47lift37
  Description: growth hormone secretagogue receptor, transcript variant 1a (from RefSeq NM_198407.2)
Gencode Transcript: ENST00000241256.3_7
Gencode Gene: ENSG00000121853.4_10
Transcript (Including UTRs)
   Position: hg19 chr3:172,161,081-172,166,246 Size: 5,166 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr3:172,162,951-172,166,203 Size: 3,253 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:172,161,081-172,166,246)mRNA (may differ from genome)Protein (366 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GHSR_HUMAN
DESCRIPTION: RecName: Full=Growth hormone secretagogue receptor type 1; Short=GHS-R; AltName: Full=GH-releasing peptide receptor; Short=GHRP; AltName: Full=Ghrelin receptor;
FUNCTION: Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Pituitary and hypothalamus.
DISEASE: Defects in GHSR may be a cause of idiopathic short stature autosomal (ISSA) [MIM:604271]. Short stature is defined by a subnormal rate of growth.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GHSR
Diseases sorted by gene-association score: growth hormone deficiency, isolated partial* (1680), growth hormone insensitivity, partial* (283), growth hormone deficiency (20), gastroparesis (18), functional gastric disease (8), churg-strauss syndrome (7), pituitary adenoma, prolactin-secreting (5), pancreatic gastrinoma (5), acromegaly (4), obesity (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.65 RPKM in Pituitary
Total median expression: 2.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.9043-0.230 Picture PostScript Text
3' UTR -396.201870-0.212 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR003905 - GHS1_rcpt
IPR017452 - GPCR_Rhodpsn_supfam

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF10320 - Serpentine type 7TM GPCR chemoreceptor Srsx
PF10323 - Serpentine type 7TM GPCR chemoreceptor Srv
PF10324 - Serpentine type 7TM GPCR chemoreceptor Srw

SCOP Domains:
52058 - L domain-like
52507 - Homo-oligomeric flavin-containing Cys decarboxylases, HFCD
81321 - Family A G protein-coupled receptor-like

ModBase Predicted Comparative 3D Structure on Q92847
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001616 growth hormone secretagogue receptor activity
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0016520 growth hormone-releasing hormone receptor activity
GO:0017046 peptide hormone binding
GO:0042562 hormone binding

Biological Process:
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007283 spermatogenesis
GO:0007565 female pregnancy
GO:0007611 learning or memory
GO:0008154 actin polymerization or depolymerization
GO:0008343 adult feeding behavior
GO:0009725 response to hormone
GO:0009755 hormone-mediated signaling pathway
GO:0010700 negative regulation of norepinephrine secretion
GO:0030252 growth hormone secretion
GO:0032094 response to food
GO:0032099 negative regulation of appetite
GO:0032100 positive regulation of appetite
GO:0032354 response to follicle-stimulating hormone
GO:0032355 response to estradiol
GO:0032691 negative regulation of interleukin-1 beta production
GO:0032869 cellular response to insulin stimulus
GO:0036321 ghrelin secretion
GO:0040018 positive regulation of multicellular organism growth
GO:0042536 negative regulation of tumor necrosis factor biosynthetic process
GO:0043134 regulation of hindgut contraction
GO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway
GO:0045409 negative regulation of interleukin-6 biosynthetic process
GO:0045923 positive regulation of fatty acid metabolic process
GO:0045927 positive regulation of growth
GO:0046676 negative regulation of insulin secretion
GO:0046697 decidualization
GO:0050728 negative regulation of inflammatory response
GO:0051963 regulation of synapse assembly
GO:0051969 regulation of transmission of nerve impulse
GO:0060123 regulation of growth hormone secretion
GO:0060259 regulation of feeding behavior
GO:0060416 response to growth hormone
GO:0071222 cellular response to lipopolysaccharide
GO:0071548 response to dexamethasone
GO:0090327 negative regulation of locomotion involved in locomotory behavior
GO:0097067 cellular response to thyroid hormone stimulus
GO:1903672 positive regulation of sprouting angiogenesis
GO:1904000 positive regulation of eating behavior
GO:1904008 response to monosodium glutamate
GO:1904349 positive regulation of small intestine smooth muscle contraction
GO:1904468 negative regulation of tumor necrosis factor secretion
GO:1905333 regulation of gastric motility
GO:1905564 positive regulation of vascular endothelial cell proliferation
GO:1990314 cellular response to insulin-like growth factor stimulus
GO:2000110 negative regulation of macrophage apoptotic process

Cellular Component:
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043005 neuron projection
GO:0045121 membrane raft


-  Descriptions from all associated GenBank mRNAs
  KJ896878 - Synthetic construct Homo sapiens clone ccsbBroadEn_06272 GHSR gene, encodes complete protein.
KR711589 - Synthetic construct Homo sapiens clone CCSBHm_00027235 GHSR (GHSR) mRNA, encodes complete protein.
KR711590 - Synthetic construct Homo sapiens clone CCSBHm_00027236 GHSR (GHSR) mRNA, encodes complete protein.
KR711591 - Synthetic construct Homo sapiens clone CCSBHm_00027237 GHSR (GHSR) mRNA, encodes complete protein.
KR711592 - Synthetic construct Homo sapiens clone CCSBHm_00027238 GHSR (GHSR) mRNA, encodes complete protein.
BC113547 - Homo sapiens growth hormone secretagogue receptor, mRNA (cDNA clone MGC:142107 IMAGE:8322599), complete cds.
AY429112 - Homo sapiens growth hormone secretagogue receptor type 1a mRNA, complete cds.
U60179 - Human growth hormone secretagogue receptor type 1a mRNA, complete cds.
HQ258211 - Synthetic construct Homo sapiens clone IMAGE:100072520 growth hormone secretagogue receptor (GHSR) gene, encodes complete protein.
AB587602 - Synthetic construct DNA, clone: pF1KE1096, Homo sapiens GHSR gene for growth hormone secretagogue receptor, without stop codon, in Flexi system.
BC069068 - Homo sapiens growth hormone secretagogue receptor, mRNA (cDNA clone MGC:95342 IMAGE:7216881), complete cds.
BC069374 - Homo sapiens growth hormone secretagogue receptor, mRNA (cDNA clone MGC:96982 IMAGE:7262191), complete cds.
U60181 - Human growth hormone secretagogue receptor type 1b mRNA, complete cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92847 (Reactome details) participates in the following event(s):

R-HSA-947647 GHSR is a receptor for ghrelin
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000241256.1, ENST00000241256.2, GHSR_HUMAN, NM_198407, Q14D12, Q6ISR8, Q92847, Q92848, Q96RJ7, uc317eio.1, uc317eio.2
UCSC ID: ENST00000241256.3_7
RefSeq Accession: NM_198407.2
Protein: Q92847 (aka GHSR_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.