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

    Gene ID: 2691, updated on 9-Jul-2017
    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; Vega:OTTHUMG00000032413
    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]
    Orthologs
    Location:
    20q11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC119781

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    growth hormone-releasing hormone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth hormone-releasing hormone receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adenohypophysis development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    adenylate cyclase-activating G-protein coupled receptor signaling pathway IC
    Inferred by Curator
    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
     
    cAMP-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    growth hormone secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cAMP biosynthetic process IDA
    Inferred from Direct Assay
    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 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    terminal bouton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    somatoliberin
    Names
    growth hormone releasing factor
    sermorelin
    somatocrinin
    somatorelin

    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, OTTHUMP00000030916, ENST00000373611.2, OTTHUMT00000079095
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 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, OTTHUMP00000030915, ENST00000373614.6, OTTHUMT00000079094
      Conserved Domains (1) summary
      pfam00123
      Location:3258
      Hormone_2; Peptide hormone

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      35782445..35788267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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