Gene Gene information from NCBI Gene database.
Entrez ID 51738
Gene name Ghrelin and obestatin prepropeptide
Gene symbol GHRL
Synonyms (NCBI Gene)
MTLRP
Chromosome 3
Chromosome location 3p25.3
Summary This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
104
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IEA
GO:0001664 Function G protein-coupled receptor binding ISS 10604470
GO:0001696 Process Gastric acid secretion IBA
GO:0001696 Process Gastric acid secretion IEA
GO:0001937 Process Negative regulation of endothelial cell proliferation IDA 15572208
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605353 18129 ENSG00000157017
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBU3
Protein name Appetite-regulating hormone (Growth hormone secretagogue) (Growth hormone-releasing peptide) (Motilin-related peptide) (Protein M46) [Cleaved into: Ghrelin-27; Ghrelin-28 (Ghrelin); Obestatin]
Protein function [Ghrelin-27]: Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR) (PubMed:10604470). Induces the release of growth hormone from the pituitary (PubMed:10604470). Has an appetite-stimulating effect, induces adiposity and s
PDB 6H3E , 7F9Y , 7NA7 , 7W2Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04644 Motilin_ghrelin 24 51 Motilin/ghrelin Family
PF04643 Motilin_assoc 57 115 Motilin/ghrelin-associated peptide Family
Tissue specificity TISSUE SPECIFICITY: Highest level in stomach. All forms are found in serum as well. Other tissues compensate for the loss of ghrelin synthesis in the stomach following gastrectomy. {ECO:0000269|PubMed:12414809}.
Sequence
Sequence length 117
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Growth hormone synthesis, secretion and action
  G alpha (q) signalling events
Synthesis, secretion, and deacylation of Ghrelin
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inherited obesity Conflicting classifications of pathogenicity rs696217 RCV004820817
Metabolic syndrome, susceptibility to risk factor; Conflicting classifications of pathogenicity rs34911341, rs696217 RCV000005364
RCV000005366
Obesity Uncertain significance; risk factor; Conflicting classifications of pathogenicity; Benign rs1044457750, rs34911341, rs696217, rs4684677 RCV002266788
RCV000033194
RCV002482831
RCV000023422
Obesity, age at onset of Conflicting classifications of pathogenicity rs696217 RCV000005365
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anorexia Nervosa Associate 17197106
Anxiety Associate 23084284
Breast Neoplasms Associate 18611262, 26472474, 35763463
Carcinoma Hepatocellular Associate 26599409
Colorectal Neoplasms Associate 20920174
Coronary Artery Disease Associate 22738689
Diabetes Complications Associate 12974878
Diabetes Mellitus Associate 12974878
Diabetes Mellitus Type 2 Associate 12974878, 32698854
Embolism Fat Associate 12181387