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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GH1 Gene

protein-coding   GIFtS: 62
GCID: GC17M061994

Growth Hormone 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Growth Hormone 11 2 3     GHN2 5
Pituitary Growth Hormone1 2 3     IGHD1B2 5
somatotropin1 2     hGH-N2
GH2 3     Growth Hormone3
GH-N2 3     

External Ids:    HGNC: 42611   Entrez Gene: 26882   Ensembl: ENSG000002593847   OMIM: 1392505   UniProtKB: P012413   

Export aliases for GH1 gene to outside databases

Previous GC identifers: GC17U990034 GC17M064420 GC17M062292 GC17M062424 GC17M062467 GC17M059348 GC17M057362


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GH1 Gene:
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an
important role in growth control. The gene, along with four other related genes, is located at the growth hormone
locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which
is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of
sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones,
leading to further diversity and potential for specialization. This particular family member is expressed in the
pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus.
Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. (provided by RefSeq,
Jul 2008)

GeneCards Summary for GH1 Gene: 
GH1 (growth hormone 1) is a protein-coding gene. Diseases associated with GH1 include growth hormone deficiency, and growth disorders, and among its related super-pathways are Rac1 Pathway and Ras Pathway. GO annotations related to this gene include growth hormone receptor binding and growth factor activity. An important paralog of this gene is GH2.

UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241
Function: Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the
liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts.
It also stimulates amino acid uptake and protein synthesis in muscle and other tissues

Gene Wiki entry for GH1 (Growth hormone 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GH1 gene promoter:
         NRSF form 1   POU3F1   HNF-4alpha2   HNF-4alpha1   E47   Arnt   HFH-1   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24.2   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q22-q24

GH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GH1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M061994:  view genomic region     (about GC identifiers)

Start:
61,994,560 bp from pter      End:
61,996,198 bp from pter
Size:
1,639 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241 (See protein sequence)
Recommended Name: Somatotropin precursor  
Size: 217 amino acids; 24847 Da
Subunit: Monomer, dimer, trimer, tetramer and pentamer, disulfide-linked or non-covalently associated, in
homopolymeric and heteropolymeric combinations. Can also form a complex either with GHBP or with the
alpha2-macroglobulin complex
Subcellular location: Secreted
Miscellaneous: Circulating GH shows a great heterogeneity due to alternative splicing, differential
post-translational modifications of monomeric forms, oligomerization, optional binding to 2 different GH-binding
proteins, and potentially proteolytic processing
6/9 PDB 3D structures from and Proteopedia for GH1 (see all 9):
1A22 (3D)        1AXI (3D)        1BP3 (3D)        1HGU (3D)        1HUW (3D)        1HWG (3D)    
Secondary accessions: A6NEF6 Q14405 Q16631 Q5EB53 Q9HBZ1 Q9UMJ7 Q9UNL5
Alternative splicing: 5 isoforms:  P01241-1   P01241-2   P01241-3   P01241-4   P01241-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GH1: NX_P01241

Explore proteomics data for GH1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01241

  • GH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GH1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000506.2  NP_072053.1  NP_072054.1  NP_072055.1  NP_072056.1  

    ENSEMBL proteins: 
     ENSP00000343791   ENSP00000408486   ENSP00000312673   ENSP00000339278  
    Reactome Protein details: P01241
    Human Recombinant Protein Products for GH1: 
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    OriGene MassSpec for GH1 
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    GenScript Purified and Recombinant Proteins for GH1
    Novus Biologicals GH1 Proteins
    Novus Biologicals GH1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for GH1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA11549663

    GH1 for ontologies           About GeneDecksing



    GH1 Antibody Products: 
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    R&D Systems Antibodies for GH1 (Growth Hormone)
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    Abcam antibodies for GH1
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    ThermoFisher Antibody for GH1
    LSBio Antibodies in human, mouse, rat for GH1 

    Assay Products for GH1: 
    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for GH1 (Growth Hormone)         (see all)
    GenScript Custom Assay Services for GH1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR018116 Somatotropin_CS
     IPR012351 4_helix_cytokine_core
     IPR009079 4_helix_cytokine-like_core
     IPR001400 Somatotropin

    Graphical View of Domain Structure for InterPro Entry P01241

    ProtoNet protein and cluster: P01241

    1 Blocks protein domain: IPB001400 Somatotropin hormone

    UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241
    Similarity: Belongs to the somatotropin/prolactin family


    GH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SOMA_HUMAN, P01241
    Function: Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the
    liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts.
    It also stimulates amino acid uptake and protein synthesis in muscle and other tissues

         Genatlas biochemistry entry for GH1:
    growth hormone 1 (N),anabolic and lipolytic,released from the anterior pituitary in a pulsatile and circadian
    manner,expressed in lymphocytes

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005131growth hormone receptor binding IPI1549776
    GO:0005148prolactin receptor binding IPI7984244
    GO:0005179hormone activity IEA--
    GO:0005515protein binding IPI8943276
    GO:0008083growth factor activity IPI9360546
         
    GH1 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gh):
     adipose tissue  endocrine/exocrine gland  growth/size  homeostasis/metabolism  liver/biliary system 
     nervous system  reproductive system 

    GH1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GH1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GH1 

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    SwitchGear 3'UTR luciferase reporter plasmidGH1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): GH1 (NM_022559)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GH1
    Sirion Biotech Customized lentivirus for stable overexpression of GH1 
                         Customized lentivirus expression plasmids for stable overexpression of GH1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GH1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GH1 About   (see all 27)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    3Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for GH1
        Development Growth hormone signaling via PI3K/AKT and MAPK cascades
    Development Prolactin receptor signaling

    5/56 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GH1 (see all 56)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    2 GeneGo (Thomson Reuters) Pathways for GH1
        Development Prolactin receptor signaling
    Development Growth hormone signaling via PI3K/AKT and MAPK cascades

    2 BioSystems Pathways for GH1
        Adipogenesis
    Endochondral Ossification

    5/7        Reactome Pathways for GH1 (see all 7)
        Cytokine Signaling in Immune system
    Signal Transduction
    Growth hormone receptor signaling
    Prolactin receptor signaling
    Signaling by ERBB4


    4         Kegg Pathways  (Kegg details for GH1):
        Cytokine-cytokine receptor interaction
    Neuroactive ligand-receptor interaction
    PI3K-Akt signaling pathway
    Jak-STAT signaling pathway


    GH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/97 Interacting proteins for GH1 (P012411, 3 ENSP000003126734) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GHRP109121, 3, ENSP000002308824EBI-1026046,EBI-286316 I2D: score=3 STRING: ENSP00000230882
    CSNK2BP678703I2D: score=1 
    ENSG00000206406P678703I2D: score=1 
    ENSG00000224398P678703I2D: score=1 
    ENSG00000224774P678703I2D: score=1 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002092NOT positive regulation of receptor internalization IDA9360546
    GO:0007259JAK-STAT cascade IDA8063815
    GO:0010535positive regulation of activation of JAK2 kinase activity IDA12552091
    GO:0014068positive regulation of phosphatidylinositol 3-kinase cascade IDA7782332
    GO:0015758glucose transport IDA9144201

    GH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GH1 (SOMA)

    UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241
    Pharmaceutical: Available under the names Nutropin or Protropin (Genentech), Norditropin (Novo Nordisk),
    Genotropin (Pharmacia Upjohn), Humatrope (Eli Lilly) and Saizen or Serostim (Serono). Used for the treatment of
    growth hormone deficiency and for Turner's syndrome

    10/132 Novoseek inferred chemical compound relationships for GH1 gene (see all 132)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    octreotide 87.8 459 1424206 (9), 15935982 (8), 12608933 (6), 16003295 (6) (see all 99)
    lanreotide 87 93 10090136 (5), 10468985 (4), 10822218 (4), 8027218 (4) (see all 34)
    pegvisomant 84.1 49 16046586 (4), 11443205 (4), 18498055 (3), 11932303 (2) (see all 23)
    acth 81 352 9876339 (7), 15163333 (7), 16832586 (5), 12379758 (4) (see all 99)
    hexarelin 78.9 156 9067986 (12), 8977750 (8), 9231048 (7), 9186817 (7) (see all 28)
    ghrp 77 146 9053785 (12), 8496311 (11), 8175966 (9), 11322505 (7) (see all 17)
    pyridostigmine 70.2 154 1902484 (8), 2220258 (6), 2225476 (5), 1358762 (5) (see all 32)
    glucose 69.5 643 15070919 (9), 7962288 (8), 12773135 (7), 15080775 (5) (see all 99)
    bromocriptine 68.9 94 1574954 (4), 9509075 (4), 1674920 (4), 1395069 (4) (see all 37)
    cabergoline 67.4 31 17530416 (4), 15638294 (3), 9024247 (2), 19439914 (2) (see all 16)

    Search CenterWatch for drugs/clinical trials and news about GH1 / SOMA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GH1 gene (5 alternative transcripts): 
    NM_000515.3  NM_022559.2  NM_022560.2  NM_022561.2  NM_022562.2  

    Unigene Cluster for GH1:

    Growth hormone 1
    Hs.655229  [show with all ESTs]
    Unigene Representative Sequence: CD516340
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000351388 ENST00000458650 ENST00000323322(uc002jdi.3 uc002jdj.3 uc002jdk.3 uc002jdl.3 uc002jdm.3 uc002jdn.3)
    ENST00000342364 ENST00000579711
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GH1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GH1

    Additional mRNA sequence: 

    AF110644.1 AF185611.1 AY613431.1 AY613432.1 BC062475.1 BC075012.2 BC075013.2 BC090045.1 
    V00519.1 

    24/64 DOTS entries (see all 64):

    DT.91840785  DT.91964566  DT.95122564  DT.95278599  DT.91985433  DT.95273898  DT.91861058  DT.92057802 
    DT.97868481  DT.92012584  DT.92405319  DT.92054920  DT.100715588  DT.91899146  DT.100715496  DT.91728134 
    DT.100853872  DT.95191024  DT.120952114  DT.95214250  DT.95336076  DT.100729857  DT.91971970  DT.95231299 

    24/442 AceView cDNA sequences (see all 442):

    CR599591 CR609208 CR606041 CR618470 CR619044 CR613416 CR598937 CR621919 
    CR621648 CR622748 CR620140 CR598419 CR604979 CR615426 CR600909 CR619105 
    CR621891 CR620014 CR593393 CR601677 CR611962 CR610932 CR623298 CR595351 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GH1 expression in normal human tissues (normalized intensities)      GH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GH1 Expression
    About this image


    GH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Placenta (Extraembryonic Tissues)
             placenta   
     
     Brain (Nervous System)

     -- (Endocrine System)
             pituitary   

    See GH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GH1

    SOURCE GeneReport for Unigene cluster: Hs.655229
        SABiosciences Expression via Pathway-Focused PCR Array including GH1: 
              Obesity in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GH1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GH1 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gh5 growth hormone   --   11 (68.89 cM) 106300271 
    chicken
    (Gallus gallus)
    Aves GH16
    Somatotropin
    55(a)
    1 → many
    27(1616706-1620213)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    49(a)
    1 → many
    6(63428935-63436554)
    zebrafish
    (Danio rerio)
    Actinopterygii gh16
    smtla6
    (see all 3)
    somatolactin alpha
    (see all 3)
    35(a)
    23(a)
    (see all 3)
    1 ↔ many
    possible ortholog
    (see all 3)
    3(22540799-22545974)
    18(46620558-46629935)


    ENSEMBL Gene Tree for GH1 (if available)
    TreeFam Gene Tree for GH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GH1 gene
    GH22  CSH22  CSH12  CSHL12  
    4 SIMAP similar genes for GH1 using alignment to 7 protein entries:     SOMA_HUMAN (see all proteins):
    GH2    CSHL1    CSH1    CSH2

    GH1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/275 SNPs in GH1 are shown (see all 275)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0158064
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0158062 N D mis40--------
    VAR_0158134
    Kowarski syndrome (KWKS)4--see VAR_0158132 D G mis40--------
    VAR_0158154
    Growth hormone deficiency, isolated, 2 (IGHD2)4--see VAR_0158152 R H mis40--------
    VAR_0158104
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0158102 Q L mis40--------
    VAR_0158044
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0158042 T I mis40--------
    VAR_0158024
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0158022 D N mis40--------
    VAR_0158114
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0158112 S C mis40--------
    VAR_0158084
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0158082 E K mis40--------
    VAR_0158074
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0158072 S F mis40--------
    VAR_0158094
    Kowarski syndrome (KWKS)4--see VAR_0158092 R C mis40--------

    HapMap Linkage Disequilibrium report for GH1 (61994560 - 61996198 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for GH1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716099CNV Deletion23290073
    esv2716101CNV Deletion23290073
    nsv833510CNV Loss17160897
    nsv833511CNV Loss17160897
    esv24237CNV Loss19812545
    nsv517272CNV Gain+Loss19592680


    Human Gene Mutation Database (HGMD): GH1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing GH1
    DNA2.0 Custom Variant and Variant Library Synthesis for GH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 139250   
    OMIM disorders: 262400  612781  173100  262650  
    UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241
  • Growth hormone deficiency, isolated, 1A (IGHD1A) [MIM:262400]: An autosomal recessive, severe deficiency
    of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]: An autosomal recessive deficiency of
    growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly
    retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Kowarski syndrome (KWKS) [MIM:262650]: A syndrome clinically characterized by short stature associated
    with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low
    insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100]: An autosomal dominant deficiency of growth
    hormone leading to short stature. Clinical severity is variable. Patients have a positive response and
    immunologic tolerance to growth hormone therapy. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/189 diseases for GH1 (see all 189):    About MalaCards
    growth hormone deficiency    growth disorders    kowarski syndrome    marasmus
    isolated growth hormone deficiency type 2    isolated growth hormone deficiency type 1a    adenohypophysitis    fibrous dysplasia
    hypoadrenalism    pituitary-dependent cushing's disease    acromegaly    idiopathic short stature
    laron syndrome    growth hormone secreting pituitary adenoma    gigantism    sphenoid sinusitis
    pituitary adenoma    short stature    pituitary apoplexy    insulin-like growth factor i deficiency

    5 diseases from the University of Copenhagen DISEASES database for GH1:
    Acromegaly     Mastitis     Hypoglycemia     Adenoma
    protein-deficiency anemia

    GH1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/96 Novoseek inferred disease relationships for GH1 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acromegaly 96 528 10427158 (5), 16625850 (5), 10197081 (5), 11701684 (4) (see all 99)
    ighd ii 89 47 12720086 (3), 17073157 (3), 17726075 (3), 20351314 (2) (see all 17)
    pituitary adenoma 88.6 120 2004472 (4), 1910948 (3), 1424206 (3), 8386895 (2) (see all 79)
    growth hormone deficiency 85.3 54 12435888 (3), 17073157 (3), 17308409 (2), 19770650 (2) (see all 41)
    short stature 84.1 189 2203797 (6), 7565946 (4), 12580940 (3), 11502828 (3) (see all 99)
    pituitary tumors 81.7 56 15765032 (2), 17594522 (2), 17975024 (2), 1646455 (1) (see all 47)
    laron syndrome 81.2 41 8726240 (2), 8977385 (2), 18462969 (2), 8808010 (1) (see all 25)
    tsh deficiency 80.9 22 7852536 (2), 9626142 (1), 9699131 (1), 15472232 (1) (see all 20)
    panhypopituitarism 80.4 18 10698595 (2), 11549674 (1), 12904605 (1), 16968807 (1) (see all 16)
    hypopituitarism 79.7 36 11701703 (2), 9652904 (2), 19549748 (2), 11527085 (1) (see all 27)

    Genatlas disease: GH1
    dwarfism (GH-N deficiency,isolated),autosomal recessive and rare dominant forms

    Genetic Association Database (GAD): GH1
    Human Genome Epidemiology (HuGE) Navigator: GH1 (42 documents)
    Tumor Gene Database (TGDB): GH1

    Export disorders for GH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GH1 gene, integrated from 9 sources (see all 2428):
    (articles sorted by number of sources associating them with GH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion. (PubMed id 11502836)1, 2, 9 Deladoey J.... Mullis P.E. (2001)
    2. Genetic screening of a Dutch population with isolated growth hormone deficiency. (PubMed id 18785993)1, 4, 9 de Graaff L.C....Hokken-Koelega A.C. (2008)
    3. Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls. (PubMed id 20190537)1, 4, 9 de Graaff L.C....Hokken-Koelega A.C. (2010)
    4. Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study. (PubMed id 16214911)1, 4, 9 Canzian F....Kaaks R. (2005)
    5. Polymorphism in the growth hormone gene, weight in infancy, and adult bone mass. (PubMed id 15472182)1, 4, 9 Dennison E.M....Cooper C. (2004)
    6. A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. (PubMed id 15001589)1, 2, 9 Lewis M.D.... Cooper D.N. (2004)
    7. Biologically inactive growth hormone caused by an amino acid substitution. (PubMed id 9276733)1, 2, 9 Takahashi Y.... Chihara K. (1997)
    8. A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene. (PubMed id 8364549)1, 2, 9 Igarashi Y....Koga J. (1993)
    9. A population-based study of IGF axis polymorphisms an d the esophageal inflammation, metaplasia, adenocarcinoma sequence. (PubMed id 20403354)1, 4 McElholm A.R....Murray L.J. (2010)
    10. Body size, IGF and growth hormone polymorphisms, and colorectal adenomas and hyperplastic polyps. (PubMed id 20580999)1, 4 Wernli K.J....Mandelson M.T. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2688 HGNC: 4261 AceView: CSH1andGH2andCSH2 Ensembl:ENSG00000259384 euGenes: HUgn2688
    ECgene: GH1 Kegg: 2688 H-InvDB: GH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GH1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GH1
    Wikipedia http://en.wikipedia.org/wiki/Growth_hormone

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GH1 gene:
    Search GeneIP for patents involving GH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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