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FLASH GENE
Symbol GH1 contributors: mct - updated : 25-04-2012
HGNC name growth hormone 1
HGNC id 4261
Corresponding disease
IGHD1 pituitary dwarfism 1
IGHD2 pituitary dwarfism 2
Location 17q23.3      Physical location : 61.994.563 - 61.996.198
Synonym name
  • growth hormone 1 (N variant)
  • somatotropin
  • Synonym symbol(s) GHN, GHV, GH-1, IGHD1B, hGH-N
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 1.64 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   HRE
    motif repetitive sequence   other
    text structure
  • 15 SNP in the proximal promoter region and three in the upstream site of the locus control region
  • vitamin D-responsive element in the promoter
  • MAPPING cloned Y linked Y status confirmed
    Map cen - GH1 - CSHL1 - CSH1 - GH2 - CSH2 - qter
    Authors Phillips (83)
    Physical map
    LOC342541 17q24.1 similar to peptidyl-Pro cis trans isomerase ACE 17q23 angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 KCNH6 17q24.2 potassium voltage-gated channel, subfamily H (eag-related), member 6 HAN11 17q24.2 WD-repeat protein LOC51204 17q24.2 clone HQ0477 PRO0477p LOC390806 17 similar to Hypothetical protein FLJ14668 MAP3K3 17q24.2 mitogen-activated protein kinase kinase kinase 3 MGC10986 17q24.2 hypothetical protein MGC10986 LYK5 17q24.2 protein kinase LYK5 GK001 17q24.2 GK001 protein DDX42 17q24.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 FTSJ3 17q23 FtsJ homolog 3 (E. coli) PSMC5 17q24-q25 proteasome (prosome, macropain) 26S subunit, ATPase, 5 SMARCD2 17q23-q24 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 LOC388410 17 LOC388410 CSH2 17q23.3-q24.2 chorionic somatomammotropin hormone 2 GH2 17q23 growth hormone 2 CSH1 17q23.3-q24.2 chorionic somatomammotropin hormone 1 (placental lactogen) CSHL1 17q23.3-q24.2 chorionic somatomammotropin hormone-like 1 GH1 17q24 growth hormone 1 CD79B 17q23 CD79B antigen (immunoglobulin-associated beta) SCN4A 17q23 sodium channel, voltage-gated, type IV, alpha ICAM2 17q23-q25 intercellular adhesion molecule 2 ERN1 16p12 ER to nucleus signalling 1 FLJ30999 17q24.2 hypothetical protein FLJ30999 HT008 17q24.2 uncharacterized hypothalamus protein HT008
    RNA
    TRANSCRIPTS type messenger
    text three alternatively spliced isoform GHN1 (22kDa), GHN2 (20kDa), GH variant (66kDa)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 820 22 217 - 1996 8855247
  • GHN1
  • full length
  • 5 splicing 777 20 202 - 1996 8855247
  • GHN2
  • lacking part of exon 3
  • 4 splicing 702 - 177 - 1996 8855247
    missing exon 3
    3 - 537 - 122 - 1996 8855247
    missing exons 3,4
    2 - 376 - 30 - 1996 8855247
  • missing exons 2,3,4
  • frameshift
  • EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Endocrineneuroendocrinepituitary  highly
    Hearing/Equilibriumear   highly
    Nervousbrain    
    Reproductivefemale systemplacenta  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion released from the anterior pituitary in a pulsatile and circadian manner
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY somatotropin/prolactin family
    CATEGORY signaling hormone
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • growth hormone 1 (N variants), anabolic and lipolytic
  • stimulating both the differentiation and proliferation of myoblasts, amino acid uptake and protein synthesis in muscle and other tissues
  • exerts metabolic effects both directly and through stimulation of IGF1, insulin, and free fatty acids (FFA)
  • increases expression of ZEB2 in the glomerular podocyte and also decreases CDH1 expression in these cells
  • GH1/IGF1 is likely to play an important role in the regulation of tendon and muscle collagen
  • induces the activity of RELA (an important member of the NFKB family of transcription factors) in growth plate chondrocytes
  • potent stimulator of longitudinal bone growth
  • stimulates RELA nuclear translocation and DNA binding in growth plate chondrocytes
  • FGF21 and GH1 are metabolic hormones that play important roles in regulating glucose and lipid metabolism
  • GH1/IGF-1 axis is the key regulator of somatic growth
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text growth
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Ghrelin is the strongest GH1 secretagogue and may be a key regulator of GH1 peak amplitude
  • may promote growth plate chondrocyte function by activating both IGF1 and BMP2 activity
  • cell & other
    REGULATION
    inhibited by GH signaling inhibited by estrigen through SOCS2 médiation
    ASSOCIATED DISORDERS
    corresponding disease(s) IGHD1 , IGHD2
    Susceptibility
  • to hypertension and strocke
  • to IGHD (isolated GH deficiency)
  • to tall stature
  • Variant & Polymorphism other
  • core promoter haplotype(CH7, CH9, CH10, CH11)increasing the risk of hypertension and strocke
  • 57GT polymorphism contributes to IGHD susceptibility
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS