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FLASH GENE
Symbol GHR contributors: mct - updated : 03-07-2013
HGNC name growth hormone receptor
HGNC id 4263
Corresponding disease
GHIS1 growth hormone insensitivity syndrome 1
GHIS2 idiopathic short stature with insensitivity to growth hormone 2
Location 5p13.1      Physical location : 42.424.025 - 42.721.925
Synonym symbol(s) EVI124, GHBP
DNA
TYPE functioning gene
STRUCTURE 298.10 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D5S2023 - D5S1715 - GDNF - D5S2021 - D5S1964 - D5S205 - D5S1460 - D5S2642 - D5S2422 - D5S2113 - D5S648 - D5S502 - HMGCS1 - D5S2570 - C9 C9 - D5S627 - D5S419 - C7 - DAB2 - D5S2614 - D5S418 - D5S2581 - D5S1901 - D5S1497 - D5S1836 - D5S501 - D5S2022 - D5S1543 - D5S2438 - PTGER2 - RPL37 - D5S1457 - D5S2425 - C6 C6 - D5S634 - D5S420 - D5S430 -[ D5S2379 - D5S2082 - D5S2063 - D5S2087 - D5S1423 - D5S1857 ] - ZNF131 - D5S1485 - D5S175 - D5S2086 - cen
Authors Peterson (99)
Text [GHR ]
Physical map
DAB2 5p13-p12.1 disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) LOC285634 5p13.2 similar to DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26; RNA helicase HDB; deleted in cancer 1; RNA helicase HDB/DICE1; DEAD box protein LOC389285 5 LOC389285 PTGER4 5p13.1 prostaglandin E receptor 4 (subtype EP4) OSRF 5p15.2-p12 osmosis responsive factor PRKAA1 5p14-p11 protein kinase, AMP-activated, alpha 1 catalytic subunit LOC389286 5 similar to FKSG62 RPL37 5p13-p12 ribosomal protein L37 CARD6 5p12 caspase recruitment domain family, member 6 C7 5p13 complement component 7 FLJ40243 5p13.1 hypothetical protein FLJ40243 C6 5p13 complement component 6 LOC345557 5p13.1 similar to RIKEN cDNA B130016O10 gene TCP1L2 5pter-p15.32 t-complex 1-like 2 OXCT 5p13 3-oxoacid CoA transferase LOC285636 5p13.1 hypothetical protein LOC285636 FBXO4 5p12 F-box only protein 4 LOC391779 5 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) GHR 5p13.1-p12 growth hormone receptor LOC389287 5 similar to synaptonemal complex protein SYP-1, SYnaPsis in meiosis abnormal SYP-1 (56.6 kD) (syp-1) SEPP1 5q31 selenoprotein P, plasma, 1 LOC391780 5 similar to peptidyl-Pro cis trans isomerase LOC340065 5p13.1 hypothetical LOC340065 LOC389288 5 LOC389288 LOC389289 5 similar to annexin II receptor LOC153684 5p13.1 hypothetical protein LOC153684 FLJ90723 5p13.1 hypothetical protein FLJ90723 FLJ10246 5p13.1 hypothetical protein FLJ10246 MGC42105 5p13.1 hypothetical protein MGC42105 HMGCS1 5p14-p13 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) CCL28 5p12 chemokine (C-C motif) ligand 28 FLJ21657 5p12 hypothetical protein FLJ21657 FLJ32363 5p12 FLJ32363 protein PAIP1 5q31.1-q31.3 Homo sapiens polyadenylate binding protein-interacting protein 1 (PAIP1), transcript variant 3, mRNA. NNT 5p13.1-cen nicotinamide nucleotide transhydrogenase FGF10 5p13-p12 fibroblast growth factor 10 MRPS30 5q11 mitochondrial ribosomal protein S30 HCN1 19p13.3 hyperpolarization activated cyclic nucleotide-gated potassium channel 1
RNA
TRANSCRIPTS type messenger
text
  • use of several 5prime-noncoding exons and alternative splicing, resulting in the generation of multiple mRNA isoforms (PMID: 19116246)
  • GHR V2 transcript is predominant in most tissues, including human fat, and is TATA-less, with several characteristics of a housekeeping gene promoter (PMID: 19116246)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 4563 71 638 - 2008 18420710
    9 splicing 4316 - 616 placenta, skeletal muscle 2008 18420710
  • HGRd3
  • lacking exon 3
  • 11 - 4814 - 638 - 2008 18420710
    10 - 4529 - 645 - 2008 18420710
    11 - 4522 - 638 - 2008 18420710
    - - 4491 - 638 - 2008 18420710
    - - 4699 - 638 - 2008 18420710
    - - 4524 - 638 - 2008 18420710
    - - 4419 - 638 - 2008 18420710
    - - 4785 - 638 - 2008 18420710
    - - 4312 - 295 - 2008 18420710
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one fibronectin type III like domains
  • an UbE (ubiquitin-dependent endocytosis) motif
  • HOMOLOGY
    interspecies homolog to murine Ghr
    Homologene
    FAMILY cytokine family of receptors
    CATEGORY signaling hormone , receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    text
  • type I membrane protein
  • extracellular domain of GHR (GHBP) is a circulating high affinity binding protein resulting from proteolysis of GHR and shedding of its extracellular domain
  • basic FUNCTION
  • receptor for pituitary gland growth hormone involved in regulating postnatal body growth
  • role of GHR gene polymorphisms in modulating adiposity and IGF1 activity in adolescents
  • role of muscle GHR signaling in facilitating cross-talk between muscle and other metabolic tissues
  • muscle GHR signaling regulates basal lipid oxidation, but not the induction of lipid oxidation in response to fasting
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BTRC is required for internalisation of the growth hormone receptor (GHR) and acts via a direct interaction with the ubiquitin-dependent endocytosis motif
  • CES1 is a novel transcriptional regulator of GHR gene expression, thereby establishing a unique nonenzymatic role for a carboxyesterase and expanding the potential biological roles of this protein superfamily
  • UBE2N and STUB1 are novel factors in the regulation of cell surface availability of GHR
  • BTRC interacts directly via its WD40 domain with the UbE (ubiquitin-dependent endocytosis) motif in GHR, promoting GHR ubiquitination
  • cell & other
    REGULATION
    Other GHR endocytosis occurs independently of GH and requires BTRC that is recruited to the UbE motif in the cytoplasmic tail and a downstream degron, DSGRTS, binding to BTRC
    GHR expression is regulated by free fatty acids (FFA)
    ASSOCIATED DISORDERS
    corresponding disease(s) GHIS1 , GHIS2
    Susceptibility to hypertension in female
    Variant & Polymorphism other GHRd3 genotype increasing the risk of hypertension among stroke patients, particularly females
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS