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Aliases for GHRL Gene

Aliases for GHRL Gene

  • Ghrelin And Obestatin Prepropeptide 2 3 5
  • 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
  • Motilin-Related Peptide 3 4
  • MTLRP 3 4
  • Ghrelin/Obestatin Preprohormone 3
  • Appetite-Regulating Hormone 3
  • Growth Hormone Secretagogue 4
  • In2c-Preproghrelin 3
  • Preproghrelin 3
  • Protein M46 4

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 Obesity and Obesity Susceptibility, Ghrl-Related. Among its related pathways are Signaling by GPCR and Peptide hormone metabolism. GO annotations related to this gene include hormone activity and protein tyrosine kinase activator activity.

UniProtKB/Swiss-Prot 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

Additional gene information for GHRL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GHRL Gene

Genomics for GHRL Gene

Regulatory Elements for GHRL Gene

Enhancers for GHRL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H010188 2.1 FANTOM5 Ensembl ENCODE dbSUPER 19.1 +98.1 98103 12 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 BRPF1 SETD5 IRAK2 GHRLOS LINC00852 TATDN2 FANCD2 BRK1 GHRL TTLL3
GH03H010201 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +88.4 88426 6 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 FOS REST PPARG IRAK2 TATDN2 VHL GHRLOS ARPC4 FANCD2OS GHRL SEC13 CAMK1 ARPC4-TTLL3
GH03H010185 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +106.0 105993 2 HDAC1 SMARCE1 RFX1 SOX6 GABPA ZNF766 HDAC2 POLR2A GATA2 MYNN IRAK2 GHRLOS TATDN2 GHRL FANCD2OS LINC00852 VHL GC03M010202
GH03H010247 1.4 ENCODE dbSUPER 11.9 +43.7 43721 2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 GHRLOS EMC3-AS1 SETD5 BRPF1 GHRL IRAK2 FANCD2OS VHL SEC13 IL17RE
GH03H009975 1.6 Ensembl ENCODE dbSUPER 10.1 +314.7 314734 4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 FOS BRPF1 TTLL3 SETD5 FANCD2 THUMPD3-AS1 BRK1 EMC3-AS1 PRRT3 CIDECP ENSG00000269894
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GHRL on UCSC Golden Path with GeneCards custom track

Genomic Location for GHRL Gene

Chromosome:
3
Start:
10,285,675 bp from pter
End:
10,292,947 bp from pter
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

  • Amidation of Leu-98 is essential for obestatin activity.
  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for GHRL

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

Suggested Antigen Peptide Sequences for GHRL Gene

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

Animal Models for GHRL Gene

MGI Knock Outs for GHRL:

Animal Model Products

  • Taconic Biosciences Mouse Models for GHRL

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GHRL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 5
nucleus 3
plasma membrane 2
mitochondrion 2
cytosol 2
cytoskeleton 1
peroxisome 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 IDA 15039149
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0030424 axon IDA 17113048
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

Pathways by source for GHRL Gene

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 --
GO:0001937 negative regulation of endothelial cell proliferation IDA 15572208
GO:0006006 glucose metabolic process NAS 17392603
GO:0007186 G-protein coupled receptor signaling pathway TAS 16511605
genes like me logo Genes that share ontologies with GHRL: view

Drugs & Compounds for GHRL Gene

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

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

(33) 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

Drug Products

Transcripts for GHRL Gene

Unigene Clusters for GHRL Gene

Ghrelin/obestatin prepropeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GHRL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
GHRL

Expression for GHRL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for GHRL Gene



Protein tissue co-expression partners for GHRL Gene

NURSA nuclear receptor signaling pathways regulating expression of GHRL Gene:

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(4.5)
  • Kidney(4.3)
  • Nervous system(4.2)
  • Intestine(2.9)
  • Pancreas(2.7)
  • Muscle(2.3)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with GHRL: view

Primer Products

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 33 34
  • 99.43 (n)
mouse
(Mus musculus)
Mammalia Ghrl 33 16 34
  • 85.47 (n)
rat
(Rattus norvegicus)
Mammalia Ghrl 33
  • 84.9 (n)
dog
(Canis familiaris)
Mammalia GHRL 33 34
  • 83.48 (n)
cow
(Bos Taurus)
Mammalia GHRL 33 34
  • 79.31 (n)
oppossum
(Monodelphis domestica)
Mammalia GHRL 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves GHR 34
  • 37 (a)
OneToOne
Species where no ortholog for GHRL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for GHRL Gene

No data available for Paralogs for GHRL Gene

Variants for GHRL Gene

Sequence variations from dbSNP and Humsavar for GHRL Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs696217 Pathogenic 10,289,773(+) TTCCA(G/T)TTCAT intron-variant, reference, missense
rs34911341 other 10,289,835(+) GAGCT(C/T)GGGGC intron-variant, reference, missense
rs4684677 other 10,286,769(+) GGTAC(A/T)GAACC intron-variant, reference, missense
rs1000183653 -- 10,288,125(+) CAGTG(C/T)TGGCT intron-variant
rs1000408195 -- 10,291,645(+) TCCCA(A/G)CATAG intron-variant, utr-variant-5-prime

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)

Relevant External Links for GHRL Gene

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

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

Disorders for GHRL Gene

MalaCards: The human disease database

(43) MalaCards diseases for GHRL Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
obesity
  • obesity, association with
obesity susceptibility, ghrl-related
  • obesity, susceptibility to
eating disorder
  • eating disorders
gastroparesis
  • gastric atonia
anorexia nervosa
  • bulimia nervosa
- elite association - COSMIC cancer census association via MalaCards
Search GHRL in MalaCards View complete list of genes associated with diseases

Relevant External Links for GHRL

Genetic Association Database (GAD)
GHRL
Human Genome Epidemiology (HuGE) Navigator
GHRL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GHRL
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. 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 22 45 60
  2. 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 22 45 60
  3. Ghrelin variants influence development of body mass index and plasma levels of total cholesterol in dialyzed patients. (PMID: 17635077) Hubacek JA … MIA Group (Clinical chemistry and laboratory medicine 2007) 3 22 45 60
  4. Variations in the preproghrelin gene correlate with higher body mass index, fat mass, and body dissatisfaction in young Japanese women. (PMID: 17616759) Ando T … Komaki G (The American journal of clinical nutrition 2007) 3 22 45 60
  5. Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish. (PMID: 16204371) Steinle NI … Shuldiner AR (The Journal of clinical endocrinology and metabolism 2005) 3 22 45 60

Products for GHRL Gene

Sources for GHRL Gene

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