GHRL ghrelin and obestatin prepropeptide [Homo sapiens (human)] - Gene

Summary

Official Symbol: GHRLprovided by HGNC
Official Full Name: ghrelin and obestatin prepropeptideprovided by HGNC
Primary source: HGNC:HGNC:18129
See related: Ensembl:ENSG00000157017 MIM:605353; AllianceGenome:HGNC:18129
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTLRP
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 empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression. [provided by RefSeq, Nov 2014]
Expression: Biased expression in stomach (RPKM 63.9) and duodenum (RPKM 5.6) See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (10285666..10292947, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (10278965..10286246, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (10327350..10334631, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DOCK4 regulates ghrelin production in gastric X/A-like cells.
Title: DOCK4 regulates ghrelin production in gastric X/A-like cells.
Ghrelin as a prominent endocrine factor in stress-induced obesity.
Title: Ghrelin as a prominent endocrine factor in stress-induced obesity.
Role of Leu72Met of GHRL and Gln223Arg of LEPR Variants on Food Intake, Subjective Appetite, and Hunger-Satiety Hormones.
Title: Role of Leu72Met of <i>GHRL</i> and Gln223Arg of <i>LEPR</i> Variants on Food Intake, Subjective Appetite, and Hunger-Satiety Hormones.
The effect of breast milk nesfatin-1 and ghrelin levels on growth in infants with SGA.
Title: The effect of breast milk nesfatin-1 and ghrelin levels on growth in infants with SGA.
Correlation of body mass index to Ghrelin and IGF-1 among children with short stature.
Title: Correlation of body mass index to Ghrelin and IGF-1 among children with short stature.
Ghrelin polymorphism/TRPV1 receptor expression in Egyptian IBS patients.
Title: Ghrelin polymorphism/TRPV1 receptor expression in Egyptian IBS patients.
Association analysis of genetic variants in the ghrelin and tumor necrosis factor alpha genes and the risk for non-Hodgkin's lymphoma in Kuwaitis.
Title: Association analysis of genetic variants in the ghrelin and tumor necrosis factor α genes and the risk for non-Hodgkin's lymphoma in Kuwaitis.
Decreased plasma ghrelin in male ALS patients is associated with poor prognosis.
Title: Decreased plasma ghrelin in male ALS patients is associated with poor prognosis.
Temporal changes and prognostic value of plasma ghrelin level in patients with acute heart failure: a prospective study.
Title: Temporal changes and prognostic value of plasma ghrelin level in patients with acute heart failure: a prospective study.
Clinical changes of leptin/ghrelin and PAI-1 levels in adolescent girls with abnormal uterine bleeding-ovulatory dysfunction.
Title: Clinical changes of leptin/ghrelin and PAI-1 levels in adolescent girls with abnormal uterine bleeding-ovulatory dysfunction.

Submit: New GeneRIF Correction See all GeneRIFs (803)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Obesity MedGen: C0028754 OMIM: 601665 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G72347 (e-PCR)
- UniSTS:229910

G72348 (e-PCR)
- UniSTS:229911

G72349 (e-PCR)
- UniSTS:229912

G72355 (e-PCR)
- UniSTS:229506

RH36438 (e-PCR)
- UniSTS:80813

SHGC-34896 (e-PCR)
- UniSTS:6375

Homology

Homologs of the GHRL gene: The GHRL gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 238 organisms have orthologs with human gene GHRL
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables ghrelin receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables ghrelin receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables ghrelin receptor binding	TAS Traceable Author Statement more info	PubMed
enables growth hormone-releasing hormone activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables growth hormone-releasing hormone activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables growth hormone-releasing hormone activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in actin polymerization or depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in adult feeding behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in cartilage development	NAS Non-traceable Author Statement more info	PubMed
involved_in cortisol secretion	NAS Non-traceable Author Statement more info	PubMed
involved_in decidualization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within dendrite development	IDA Inferred from Direct Assay more info	PubMed
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in gastric acid secretion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in gastric emptying	IEA Inferred from Electronic Annotation more info
involved_in glucose metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in growth hormone secretion	TAS Traceable Author Statement more info	PubMed
involved_in hormone-mediated signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of angiogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of circadian sleep/wake cycle, REM sleep	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of locomotion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of adipose tissue development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of appetite	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bone development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of circadian sleep/wake cycle, non-REM sleep	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of corticotropin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cortisol secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of eating behavior	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gastric mucosal blood circulation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of growth hormone receptor signaling pathway	IC Inferred by Curator more info	PubMed
involved_in positive regulation of growth hormone secretion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of growth hormone secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of growth rate	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of multicellular organism growth	IC Inferred by Curator more info	PubMed
involved_in positive regulation of protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of small intestinal transit	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of small intestine smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of sprouting angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of synapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vascular endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of gastric motility	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of response to food	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of transmission of nerve impulse	IEA Inferred from Electronic Annotation more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hormone	IDA Inferred from Direct Assay more info	PubMed
involved_in synapse assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: appetite-regulating hormone

Names: In2c-preproghrelin; ghrelin, growth hormone secretagogue receptor ligand; ghrelin/obestatin preprohormone; ghrelin/obestatin prepropeptide; growth hormone-releasing peptide; motilin-related peptide; prepro-appetite regulatory hormone; preproghrelin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011560.1 RefSeqGene

Range

5001..12282

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001134941.3 → NP_001128413.1 appetite-regulating hormone isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001128413.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting isoform (2) contains the ligands ghrelin-27, which lacks a single amino acid compared to ghrelin-28 found in isoform 1, and obestatin. Variants 2 and 10 encode the same protein.

Source sequence(s)

AC022384, BC025791, EF549561, EF549563, EU072084, EU072085

Consensus CDS

CCDS46750.1

UniProtKB/Swiss-Prot

Q9UBU3

Related

ENSP00000287656.7, ENST00000287656.11

Conserved Domains (2) summary

pfam04643
Location:56 → 114

Motilin_assoc; Motilin/ghrelin-associated peptide

pfam04644
Location:25 → 50

Motilin_ghrelin; Motilin/ghrelin
NM_001134944.2 → NP_001128416.1 appetite-regulating hormone isoform 3

See identical proteins and their annotated locations for NP_001128416.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (3) is shorter compared to isoform 1 and lacks the N-terminal region that encodes the signal peptide and ghrelin-28 ligand found in isoform 1.

Source sequence(s)

AC022384, BC025791, EF549561, EF549574

Consensus CDS

CCDS46748.1

UniProtKB/Swiss-Prot

Q9UBU3

Related

ENSP00000416768.2, ENST00000437422.6

Conserved Domains (1) summary

pfam04643
Location:45 → 103

Motilin_assoc; Motilin/ghrelin-associated peptide
NM_001134945.2 → NP_001128417.1 appetite-regulating hormone isoform 4

See identical proteins and their annotated locations for NP_001128417.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons and uses an alternate in-frame splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The resulting isoform (4) is shorter compared to isoform 1 and lacks the N-terminal region that encodes the signal peptide and ghrelin-28 ligand found in isoform 1.

Source sequence(s)

AC022384, BC025791, EF549561, EU072086

Consensus CDS

CCDS46749.1

UniProtKB/Swiss-Prot

Q9UBU3

Related

ENSP00000388145.2, ENST00000449238.6

Conserved Domains (1) summary

pfam04643
Location:44 → 102

Motilin_assoc; Motilin/ghrelin-associated peptide
NM_001134946.2 → NP_001128418.1 appetite-regulating hormone isoform 5

See identical proteins and their annotated locations for NP_001128418.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks three alternate in-frame exons in the 5' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (5) is shorter compared to isoform 1 and lacks the N-terminal region that encodes the signal peptide and ghrelin-28 ligand found in isoform 1.

Source sequence(s)

AC022384, BC025791, EF549561, EF549575

Consensus CDS

CCDS46747.1

UniProtKB/Swiss-Prot

Q9UBU3

Related

ENSP00000403725.2, ENST00000439975.6

Conserved Domains (1) summary

pfam04643
Location:23 → 64

Motilin_assoc; Motilin/ghrelin-associated peptide
NM_001302821.2 → NP_001289750.1 appetite-regulating hormone isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001289750.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. This isoform (8) contains the ligands ghrelin-28 and obestatin. Variants 1, 8, 9, 11 and 12 encode the same protein.

Source sequence(s)

AC022384, AY359053, BC025791, EF549561, EU072084

Consensus CDS

CCDS33700.1

UniProtKB/Swiss-Prot

Q9UBU3

Conserved Domains (2) summary

pfam04643
Location:57 → 115

Motilin_assoc; Motilin/ghrelin-associated peptide

pfam04644
Location:25 → 51

Motilin_ghrelin; Motilin/ghrelin
NM_001302822.2 → NP_001289751.1 appetite-regulating hormone isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001289751.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. This isoform (9) contains the ligands ghrelin-28 and obestatin. Variants 1, 8, 9, 11 and 12 encode the same protein.

Source sequence(s)

AC022384, AY359053, BC025791, EF549561, EU072084

Consensus CDS

CCDS33700.1

UniProtKB/Swiss-Prot

Q9UBU3

Related

ENSP00000391406.1, ENST00000457360.5

Conserved Domains (2) summary

pfam04643
Location:57 → 115

Motilin_assoc; Motilin/ghrelin-associated peptide

pfam04644
Location:25 → 51

Motilin_ghrelin; Motilin/ghrelin
NM_001302823.2 → NP_001289752.1 appetite-regulating hormone isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001289752.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting isoform (2) contains the ligands ghrelin-27, which lacks a single amino acid compared to ghrelin-28 found in isoform 1, and obestatin. Variants 2 and 10 encode the same protein.

Source sequence(s)

AC022384, BC025791, EF549561, EU072084

Consensus CDS

CCDS46750.1

UniProtKB/Swiss-Prot

Q9UBU3

Related

ENSP00000399922.1, ENST00000430179.5

Conserved Domains (2) summary

pfam04643
Location:56 → 114

Motilin_assoc; Motilin/ghrelin-associated peptide

pfam04644
Location:25 → 50

Motilin_ghrelin; Motilin/ghrelin
NM_001302824.2 → NP_001289753.1 appetite-regulating hormone isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001289753.1

Status: REVIEWED

Description

Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. This isoform (11) contains the ligands ghrelin-28 and obestatin. Variants 1, 8, 9, 11 and 12 encode the same protein.

Source sequence(s)

AC022384, AY359053, BC025791, EF549561, EU072084

Consensus CDS

CCDS33700.1

UniProtKB/Swiss-Prot

Q9UBU3

Related

ENSP00000414819.1, ENST00000429122.1

Conserved Domains (2) summary

pfam04643
Location:57 → 115

Motilin_assoc; Motilin/ghrelin-associated peptide

pfam04644
Location:25 → 51

Motilin_ghrelin; Motilin/ghrelin
NM_001302825.2 → NP_001289754.1 appetite-regulating hormone isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001289754.1

Status: REVIEWED

Description

Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 1. This isoform (12) contains the ligands ghrelin-28 and obestatin. Variants 1, 8, 9, 11 and 12 encode the same protein.

Source sequence(s)

AC022384, AY359053, BC025791, EF549561

Consensus CDS

CCDS33700.1

UniProtKB/Swiss-Prot

Q9UBU3

Conserved Domains (2) summary

pfam04643
Location:57 → 115

Motilin_assoc; Motilin/ghrelin-associated peptide

pfam04644
Location:25 → 51

Motilin_ghrelin; Motilin/ghrelin
NM_016362.5 → NP_057446.1 appetite-regulating hormone isoform 1 preproprotein

See identical proteins and their annotated locations for NP_057446.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). This isoform (1) contains the ligands ghrelin-28 and obestatin. Variants 1, 8, 9, 11 and 12 encode the same protein.

Source sequence(s)

AC022384, AY359053, BC025791, EF549561, EF549563, EU072083, EU072084

Consensus CDS

CCDS33700.1

UniProtKB/Swiss-Prot

Q9UBU3

Related

ENSP00000335074.8, ENST00000335542.13

Conserved Domains (2) summary

pfam04643
Location:57 → 115

Motilin_assoc; Motilin/ghrelin-associated peptide

pfam04644
Location:25 → 51

Motilin_ghrelin; Motilin/ghrelin

RNA

NR_126505.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (13) lacks several alternate internal exons compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC022384, BC025791, EF549557, EF549561