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 g... See more...

Aliases for GHRL Gene

Aliases for GHRL Gene

  • Ghrelin And Obestatin Prepropeptide 2 3 5
  • MTLRP 2 3 4
  • Ghrelin, Growth Hormone Secretagogue Receptor Ligand 2 3
  • Prepro-Appetite Regulatory Hormone 2 3
  • Growth Hormone-Releasing Peptide 3 4
  • Ghrelin/Obestatin Prepropeptide 2 3
  • Appetite-Regulating Hormone 3 4
  • Motilin-Related Peptide 3 4
  • Ghrelin/Obestatin Preprohormone 3
  • Growth Hormone Secretagogue 4
  • In2c-Preproghrelin 3
  • Preproghrelin 3
  • Protein M46 4
  • Obestatin 2
  • Ghrelin 2
  • GHRL 5

External Ids for GHRL Gene

Previous GeneCards Identifiers for GHRL Gene

  • GC03M010256
  • GC03M010302

Summaries for GHRL Gene

Entrez Gene Summary for GHRL Gene

  • 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]

GeneCards Summary for GHRL Gene

GHRL (Ghrelin And Obestatin Prepropeptide) is a Protein Coding gene. Diseases associated with GHRL include Body Mass Index Quantitative Trait Locus 11 and Bulimia Nervosa. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include hormone activity and protein tyrosine kinase activator activity.

UniProtKB/Swiss-Prot Summary for GHRL Gene

  • Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR). Induces the release of growth hormone from the pituitary. Has an appetite-stimulating effect, induces adiposity and stimulates gastric acid secretion. Involved in growth regulation.
  • Obestatin may be the ligand for GPR39. May have an appetite-reducing effect resulting in decreased food intake. May reduce gastric emptying activity and jejunal motility (By similarity).

Gene Wiki entry for GHRL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GHRL Gene

Genomics for GHRL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GHRL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J010291 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 607.7 +0.2 232 2.1 GATAD2A LEF1 IKZF1 RCOR2 POLR2A ETV6 LARP7 MTA2 RELA PKNOX1 GHRL lnc-GHRL-3-001 lnc-GHRL-3-002 piR-35162 piR-50822 GHRLOS lnc-GHRL-2 SEC13 ENSG00000272410
GH03J010290 Promoter 0.5 EPDnew 600.7 +2.7 2704 0.1 POLR2A SMARCA4 GHRL lnc-GHRL-3-002 piR-35162 piR-50822 ENSG00000276678 lnc-GHRL-3-001 GHRLOS ENSG00000272410
GH03J010292 Promoter 0.4 EPDnew 600.7 +2.2 2193 0.1 POLR2A GHRL lnc-GHRL-3-002 piR-35162 piR-50822 ENSG00000276678 lnc-GHRL-3-001 GHRLOS ENSG00000272410
GH03J010304 Promoter 0.4 EPDnew 600.4 -11.1 -11097 0.1 POLR2A lnc-GHRL-2 piR-42585 piR-49183 piR-44537 GHRL SEC13
GH03J010247 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +43.6 43646 3.4 RNF2 SP1 CREB1 GATAD2A HNRNPL PRDM10 ZNF629 TFE3 ZNF512 POLR2A ENSG00000272410 TATDN2 piR-31643 piR-34447 lnc-GHRL-4 piR-43485 piR-55173 piR-51248 GHRLOS EMC3-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GHRL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GHRL

Top Transcription factor binding sites by QIAGEN in the GHRL gene promoter:
  • AP-1
  • ATF-2
  • CREB
  • deltaCREB

Genomic Locations for GHRL Gene

Genomic Locations for GHRL Gene
chr3:10,285,666-10,292,947
(GRCh38/hg38)
Size:
7,282 bases
Orientation:
Minus strand
chr3:10,327,359-10,334,631
(GRCh37/hg19)
Size:
7,273 bases
Orientation:
Minus strand

Genomic View for GHRL Gene

Genes around GHRL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GHRL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GHRL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GHRL Gene

Proteins for GHRL Gene

  • Protein details for GHRL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBU3-GHRL_HUMAN
    Recommended name:
    Appetite-regulating hormone
    Protein Accession:
    Q9UBU3
    Secondary Accessions:
    • A8CF34
    • A8CF38
    • A8CF42
    • A8DN29
    • A8DN30
    • Q86YP8
    • Q8TAT9
    • Q9H3R3

    Protein attributes for GHRL Gene

    Size:
    117 amino acids
    Molecular mass:
    12911 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GHRL Gene

    Alternative splice isoforms for GHRL Gene

neXtProt entry for GHRL Gene

Post-translational modifications for GHRL Gene

  • O-octanoylation or O-decanoylation is essential for ghrelin activity. The O-decanoylated forms Ghrelin-27-C10 and Ghrelin-28-C10 differ in the length of the carbon backbone of the carboxylic acid bound to Ser-26. A small fraction of ghrelin, ghrelin-28-C10:1, may be modified with a singly unsaturated carboxylic acid (PubMed:10604470).
  • Amidation of Leu-98 is essential for obestatin activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for GHRL Gene

Domains & Families for GHRL Gene

Gene Families for GHRL Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for GHRL Gene

InterPro:
Blocks:
  • Globular protein, non-globular alpha/beta subunit
  • Preproghrelin peptide signature
  • Motilin/ghrelin
ProtoNet:

Suggested Antigen Peptide Sequences for GHRL Gene

GenScript: Design optimal peptide antigens:
  • Ghrelin (A2T3X2_HUMAN)
  • Ghrelin (A2T3X3_HUMAN)
  • Ghrelin (A2T3X4_HUMAN)
  • Ghrelin (A2T3X5_HUMAN)
  • Protein M46 (GHRL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBU3

UniProtKB/Swiss-Prot:

GHRL_HUMAN :
  • Belongs to the motilin family.
Family:
  • Belongs to the motilin family.
genes like me logo Genes that share domains with GHRL: view

Function for GHRL Gene

Molecular function for GHRL Gene

UniProtKB/Swiss-Prot Function:
Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR). Induces the release of growth hormone from the pituitary. Has an appetite-stimulating effect, induces adiposity and stimulates gastric acid secretion. Involved in growth regulation.
UniProtKB/Swiss-Prot Function:
Obestatin may be the ligand for GPR39. May have an appetite-reducing effect resulting in decreased food intake. May reduce gastric emptying activity and jejunal motility (By similarity).

Phenotypes From GWAS Catalog for GHRL Gene

Gene Ontology (GO) - Molecular Function for GHRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G protein-coupled receptor binding ISS 10604470
GO:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016608 growth hormone-releasing hormone activity IEA,TAS 16511605
GO:0030296 protein tyrosine kinase activator activity IMP 15350694
genes like me logo Genes that share ontologies with GHRL: view
genes like me logo Genes that share phenotypes with GHRL: view

Human Phenotype Ontology for GHRL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GHRL Gene

MGI Knock Outs for GHRL:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GHRL

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for GHRL Gene

Localization for GHRL Gene

Subcellular locations from UniProtKB/Swiss-Prot for GHRL Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GHRL gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
mitochondrion 3
nucleus 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
cytosol 2
lysosome 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GHRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IBA,IDA 15039149
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with GHRL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GHRL Gene

Pathways & Interactions for GHRL Gene

genes like me logo Genes that share pathways with GHRL: view

SIGNOR curated interactions for GHRL Gene

Activates:

Gene Ontology (GO) - Biological Process for GHRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IMP 15350694
GO:0001696 gastric acid secretion IBA 21873635
GO:0001937 negative regulation of endothelial cell proliferation IDA 15572208
GO:0006006 glucose metabolic process NAS 17392603
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with GHRL: view

Drugs & Compounds for GHRL Gene

(91) Drugs for GHRL Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Obestatin (rat) Pharma Endogenous reported anorexigenic peptide 0

(32) Additional Compounds for GHRL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for GHRL Gene

Compound Action Cas Number
Obestatin (rat) 869705-22-6
genes like me logo Genes that share compounds with GHRL: view

Transcripts for GHRL Gene

mRNA/cDNA for GHRL Gene

10 REFSEQ mRNAs :
33 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GHRL

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GHRL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2:
SP3: -

Relevant External Links for GHRL Gene

GeneLoc Exon Structure for
GHRL

Expression for GHRL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GHRL Gene

mRNA differential expression in normal tissues according to GTEx for GHRL Gene

This gene is overexpressed in Stomach (x40.7).

Protein differential expression in normal tissues from HIPED for GHRL Gene

This gene is overexpressed in Islet of Langerhans (65.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GHRL Gene



Protein tissue co-expression partners for GHRL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GHRL

SOURCE GeneReport for Unigene cluster for GHRL Gene:

Hs.590080

mRNA Expression by UniProt/SwissProt for GHRL Gene:

Q9UBU3-GHRL_HUMAN
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.

Evidence on tissue expression from TISSUES for GHRL Gene

  • Stomach(4.9)
  • Blood(4.7)
  • Heart(4.6)
  • Kidney(4.5)
  • Nervous system(4.4)
  • Pancreas(3.3)
  • Intestine(3.3)
  • Muscle(3)
  • Adrenal gland(2.8)
  • Liver(2.7)
  • Skin(2.6)
  • Thyroid gland(2.5)
  • Urine(2.1)
  • Bone(2.1)
  • Saliva(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with GHRL: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GHRL Gene

Orthologs for GHRL Gene

This gene was present in the common ancestor of chordates.

Orthologs for GHRL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GHRL 30 31
  • 99.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ghrl 30 17 31
  • 85.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ghrl 30
  • 84.9 (n)
Dog
(Canis familiaris)
Mammalia GHRL 30 31
  • 83.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GHRL 30 31
  • 79.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GHRL 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GHR 31
  • 37 (a)
OneToOne
Species where no ortholog for GHRL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for GHRL Gene

ENSEMBL:
Gene Tree for GHRL (if available)
TreeFam:
Gene Tree for GHRL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GHRL: view image

Paralogs for GHRL Gene

No data available for Paralogs for GHRL Gene

Variants for GHRL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GHRL Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs34911341 Risk Factor: Obesity; Metabolic syndrome, susceptibility to 10,289,835(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
rs4684677 Risk Factor: Obesity. - 10,286,769(-) T/Ap.Gln90Leu MISSENSE_VARIANT
rs696217 Pathogenic, Risk Factor: Metabolic syndrome, susceptibility to; Obesity, age at onset of. - 10,289,773(-) G/Tp.Leu72Met MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GHRL Gene

Structural Variations from Database of Genomic Variants (DGV) for GHRL Gene

Variant ID Type Subtype PubMed ID
dgv762e201 CNV deletion 23290073
esv4117 OTHER complex 18987735
nsv1073204 CNV deletion 25765185
nsv1121603 CNV deletion 24896259
nsv436362 CNV deletion 17901297
nsv436869 CNV insertion 17901297
nsv460420 CNV loss 19166990
nsv508903 CNV insertion 20534489
nsv589650 CNV loss 21841781

Variation tolerance for GHRL Gene

Residual Variation Intolerance Score: 82.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.92; 74.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GHRL Gene

Human Gene Mutation Database (HGMD)
GHRL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GHRL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GHRL Gene

Disorders for GHRL Gene

MalaCards: The human disease database

(82) MalaCards diseases for GHRL Gene - From: OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GHRL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GHRL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GHRL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GHRL Gene

Publications for GHRL Gene

  1. A genetic study of the ghrelin and growth hormone secretagogue receptor (GHSR) genes and stature. (PMID: 18945286) Gueorguiev M … Korbonits M (Annals of human genetics 2009) 3 23 41
  2. Polymorphisms of genes coding for ghrelin and its receptor in relation to anthropometry, circulating levels of IGF-I and IGFBP-3, and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition (EPIC). (PMID: 18375957) Dossus L … Kaaks R (Carcinogenesis 2008) 3 23 41
  3. Multiple genetic factors in olanzapine-induced weight gain in schizophrenia patients: a cohort study. (PMID: 19193342) Ujike H … Kuroda S (The Journal of clinical psychiatry 2008) 3 23 41
  4. Lack of association of ghrelin precursor gene variants and percentage body fat or serum lipid profiles. (PMID: 18239581) Martin GR … Sun G (Obesity (Silver Spring, Md.) 2008) 3 23 41
  5. Family trios analysis of common polymorphisms in the obestatin/ghrelin, BDNF and AGRP genes in patients with Anorexia nervosa: association with subtype, body-mass index, severity and age of onset. (PMID: 17197106) Dardennes RM … Epelbaum J (Psychoneuroendocrinology 2007) 3 23 41

Products for GHRL Gene

Sources for GHRL Gene