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GHRH growth hormone releasing hormone [ Homo sapiens (human) ]

Gene ID: 2691, updated on 28-Mar-2019

Summary

Official Symbol
GHRHprovided by HGNC
Official Full Name
growth hormone releasing hormoneprovided by HGNC
Primary source
HGNC:HGNC:4265
See related
Ensembl:ENSG00000118702 MIM:139190
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
GRF; INN; GHRF
Summary
This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See GHRH in Genome Data Viewer
Location:
20q11.23
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (37251086..37261817, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35879489..35887534, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene maestro heat like repeat family member 8 Neighboring gene ribosomal protein L13 pseudogene Neighboring gene ribophorin II Neighboring gene mannosidase beta like Neighboring gene uncharacterized LOC105372606

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
    Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Glucagon-type ligand receptors, organism-specific biosystem (from REACTOME)
    Glucagon-type ligand receptors, organism-specific biosystemThe glucagon hormone family regulates the activity of GPCRs from the secretin receptor subfamily in Class II/B (Mayo KE et al, 2003).
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119781

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth hormone-releasing hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth hormone-releasing hormone activity IDA
Inferred from Direct Assay
more info
PubMed 
growth hormone-releasing hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth hormone-releasing hormone receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
neuropeptide hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
adenohypophysis development ISS
Inferred from Sequence or Structural Similarity
more info
 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
growth hormone secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth hormone secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
NOT positive regulation of circadian sleep/wake cycle, REM sleep IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of circadian sleep/wake cycle, REM sleep NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of growth hormone secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of growth hormone secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of growth hormone secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of growth hormone secretion NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of insulin-like growth factor receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of multicellular organism growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
response to food ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perikaryon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
terminal bouton ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
somatoliberin
Names
growth hormone releasing factor
sermorelin
somatocrinin
somatorelin

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001184731.2NP_001171660.1  somatoliberin isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_001171660.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AW134884, BC098161, BX102214
    Consensus CDS
    CCDS54460.1
    UniProtKB/Swiss-Prot
    P01286
    Related
    ENSP00000362713.2, ENST00000373611.2
    Conserved Domains (1) summary
    pfam00123
    Location:3258
    Hormone_2; Peptide hormone
  2. NM_021081.5NP_066567.1  somatoliberin isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_066567.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AW134884, BC098109, BX102214
    Consensus CDS
    CCDS13292.1
    UniProtKB/Swiss-Prot
    P01286
    Related
    ENSP00000237527.3, ENST00000237527.7
    Conserved Domains (1) summary
    pfam00123
    Location:3258
    Hormone_2; Peptide hormone

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    37251086..37261817 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528788.2XP_011527090.1  somatoliberin isoform X2

    See identical proteins and their annotated locations for XP_011527090.1

    UniProtKB/Swiss-Prot
    P01286
    Conserved Domains (1) summary
    pfam00123
    Location:3258
    Hormone_2; Peptide hormone
  2. XM_011528784.2XP_011527086.1  somatoliberin isoform X1

    See identical proteins and their annotated locations for XP_011527086.1

    UniProtKB/Swiss-Prot
    P01286
    Related
    ENSP00000362716.2, ENST00000373614.6
    Conserved Domains (1) summary
    pfam00123
    Location:3258
    Hormone_2; Peptide hormone
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