GHRL (ghrelin and obestatin prepropeptide)

Gene

• Entrez ID: 51738
• Gene name: Ghrelin and obestatin prepropeptide
• Gene symbol: GHRL
• Synonyms: 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)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	IMP	15350694
GO:0001664	Function	G protein-coupled receptor binding	ISS	10604470
GO:0001696	Process	Gastric acid secretion	IBA	21873635
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IDA	15572208
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005576	Component	Extracellular region	IDA	17392603
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	15039149, 15531532
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006006	Process	Glucose metabolic process	NAS	17392603
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS	10604470
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	16511605
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	ISS
GO:0008154	Process	Actin polymerization or depolymerization	IDA	15232612
GO:0008343	Process	Adult feeding behavior	ISS
GO:0009725	Process	Response to hormone	IDA	15232612
GO:0009755	Process	Hormone-mediated signaling pathway	TAS	16511605
GO:0016358	Process	Dendrite development	IDA	16491079
GO:0016525	Process	Negative regulation of angiogenesis	NAS	15572208
GO:0016608	Function	Growth hormone-releasing hormone activity	IBA	21873635
GO:0016608	Function	Growth hormone-releasing hormone activity	ISS	10604470
GO:0016608	Function	Growth hormone-releasing hormone activity	TAS	16511605
GO:0030252	Process	Growth hormone secretion	TAS	16511605
GO:0030296	Function	Protein tyrosine kinase activator activity	IMP	15350694
GO:0030424	Component	Axon	IDA	17113048
GO:0031768	Function	Ghrelin receptor binding	IBA	21873635
GO:0031768	Function	Ghrelin receptor binding	ISS
GO:0031768	Function	Ghrelin receptor binding	TAS	16511605
GO:0032024	Process	Positive regulation of insulin secretion	ISS
GO:0032095	Process	Regulation of response to food	IBA	21873635
GO:0032100	Process	Positive regulation of appetite	ISS
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IDA	15232612
GO:0032715	Process	Negative regulation of interleukin-6 production	IDA	15232612
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IDA	15232612
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035483	Process	Gastric emptying	IEA
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0040010	Process	Positive regulation of growth rate	IEA
GO:0040013	Process	Negative regulation of locomotion	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IC	16511605
GO:0042127	Process	Regulation of cell population proliferation	IDA	15564328, 16394173
GO:0042322	Process	Negative regulation of circadian sleep/wake cycle, REM sleep	IDA	18329818
GO:0043066	Process	Negative regulation of apoptotic process	IDA	15158140
GO:0043400	Process	Cortisol secretion	NAS	17201814
GO:0043627	Process	Response to estrogen	IDA	15292338
GO:0046010	Process	Positive regulation of circadian sleep/wake cycle, non-REM sleep	IDA	18329818
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046697	Process	Decidualization	IDA	17494105
GO:0050728	Process	Negative regulation of inflammatory response	IBA	21873635
GO:0050728	Process	Negative regulation of inflammatory response	IDA	15232612
GO:0051216	Process	Cartilage development	NAS	15576457
GO:0051461	Process	Positive regulation of corticotropin secretion	IDA	12566947
GO:0051464	Process	Positive regulation of cortisol secretion	IDA	12566947, 18329818
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IDA	16491079
GO:0051969	Process	Regulation of transmission of nerve impulse	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060124	Process	Positive regulation of growth hormone secretion	IBA	21873635
GO:0060124	Process	Positive regulation of growth hormone secretion	IDA	12566947, 18329818
GO:0060399	Process	Positive regulation of growth hormone receptor signaling pathway	IC	12566947
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:0120058	Process	Positive regulation of small intestinal transit	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	19666521
GO:1903012	Process	Positive regulation of bone development	IEA
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IEA
GO:1904000	Process	Positive regulation of eating behavior	IEA
GO:1904179	Process	Positive regulation of adipose tissue development	IEA
GO:1904346	Process	Positive regulation of gastric mucosal blood circulation	IEA
GO:1904349	Process	Positive regulation of small intestine smooth muscle contraction	IEA
GO:1905333	Process	Regulation of gastric motility	IEA
GO:1905564	Process	Positive regulation of vascular endothelial cell proliferation	IEA

Other IDs

• MIM: 605353
• HGNC: 18129
• e!Ensembl: ENSG00000157017

Protein

• UniProt ID: 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

• Sequence:

  MPSPGTVCSLLLLGMLWLDLAMAGSSFLSPEHQRVQQRKESKKPPAKLQPRALAGWLRPE
  DGGQAEGAEDELEVRFNAPFDVGIKLSGVQYQQHSQALGKFLQDILWEEAKEAPADK

• Sequence length: 117

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Growth hormone synthesis, secretion and action

Reactome:

G alpha (q) signalling events
Synthesis, secretion, and deacylation of Ghrelin

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	21472143
Anencephaly	Iniencephaly, Exencephaly	rs773607884	17400914
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	21472143
Esophagus neoplasm	Esophageal Neoplasms, Malignant neoplasm of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	21472143
Myocardial infarction	Myocardial Failure	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	20572026
Neural tube defect	Neural Tube Defects	rs121918220, rs121434297, rs137853061, rs137853062, rs3127334, rs267607167, rs267607168, rs387907204, rs139365610, rs137955120, rs786201015, rs786201016, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs757259023, rs781461462, rs762921297, rs1114167354, rs557643577, rs147277149, rs765586205, rs377443637, rs1563593163, rs1303000329, rs1565818580, rs986604359, rs1293600145, rs114727354, rs146357218, rs768980918, rs140277700, rs139645527, rs750323424, rs368321176, rs1579619636, rs893229476, rs754990692, rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907, rs776969786, rs1189298981, rs375908206, rs1734858651, rs778738842	17400914
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	19429016

Unknown
Disease name	Disease term	dbSNP ID	References
Acrania	Acrania		17400914
Clonic seizures	Clonic Seizures		19429016
Colitis	Colitis		19617644
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569	20572026
Craniorachischisis	Craniorachischisis		17400914
Diastematomyelia	Diastematomyelia		17400914
Gastric ulcer	Gastric ulcer		16259727, 15177919
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided	rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741	20572026
Hypotonic seizures	Epileptic drop attack		19429016
Jacksonian seizure	Jacksonian Seizure		19429016
Melancholia	Melancholia		19272368
Mental depression	Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic	rs587778876, rs587778877	19272368
Neurenteric cyst	Neurenteric Cyst		17400914
Primary tethered cord syndrome	Tethered Cord Syndrome		17400914
Spinal cord myelodysplasia	Spinal Cord Myelodysplasia		17400914
Ulcerative colitis	Ulcerative Colitis		19617644