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GH1 Gene

protein-coding   GIFtS: 62
GCID: GC17M061994

Growth Hormone 1

  See GH1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 isolated growth hormone deficiency type 1b. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   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 Chromatin IP Primers for GH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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
Selected 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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    GH1 Human Recombinant Protein Products:

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    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.

     
    Search eBioscience for Proteins for GH1 

    GH1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GH1
    R&D Systems Antibodies for GH1 (Growth Hormone)
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    Novus Biologicals GH1 Antibodies
    Abcam antibodies for GH1 (P01241 , P01241)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for GH1
    LSBio Antibodies in human, mouse, rat for GH1

    GH1 Assay Products:

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    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.
    Search eBioscience for ELISAs for GH1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    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


    Find genes that share domains with GH1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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
         
    Find genes that share ontologies with GH1           About GenesLikeMe


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

    Find genes that share phenotypes with GH1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GH1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

    miRNA
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    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GH1
    Predesigned siRNA for gene silencing in human, mouse, rat GH1

    Gene Editing
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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

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


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SOMA_HUMAN, P01241: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus2
    plasma membrane2
    endoplasmic reticulum1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with GH1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GH1 About   (see all 29)  
    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
    3ERK Signaling
    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


    Find genes that share SuperPaths with GH1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    3 Reactome Pathways for GH1
        Synthesis, secretion, and deacylation of Ghrelin
    Growth hormone receptor signaling
    Prolactin receptor signaling


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

        Pathway & Disease-focused RT2 Profiler PCR Array including GH1: 
              Obesity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GH1

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

    Selected Interacting proteins for GH1 (P012411, 3 ENSP000003126734) via UniProtKB, MINT, STRING, and/or I2D (see all 101)
    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): Selected biological process terms (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 signaling IDA7782332
    GO:0015758glucose transport IDA9144201

    Find genes that share ontologies with GH1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected 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)



    Find genes that share compounds with GH1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 5): GH1 (NM_022559)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GH1
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat GH1
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 442):

    CR606994 CR605776 CR614095 CR615810 CR601370 CR622470 CR603528 CR611453 
    CR592981 CR618200 CR601066 CR593469 CR590494 CR605784 CR624074 CR598937 
    CR613696 CR622008 CR619645 CR598783 CR606291 CR615867 CR598505 CR593413 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GH1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Placenta (Extraembryonic Tissues)
    GH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655229
        Pathway & Disease-focused RT2 Profiler PCR Array including GH1: 
              Obesity in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GH1
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    QuantiFast Probe-based Assays in human, mouse, rat GH1
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GH1 gene from Selected 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
    Gallus gallus growth hormone (GH), mRNA.
    55(a)
    1 → many
    27(1616706-1620213)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    50(a)
    1 → many
    6(63428935-63436554)
    zebrafish
    (Danio rerio)
    Actinopterygii gh16
    growth hormone 1
    37(a)
    1 → many
    3(22540799-22545974) ENSDARG00000038185


    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)
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    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

    Find genes that share paralogs with GH1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GH1 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for GH1 (see all 43):    
    About MalaCards
    growth hormone deficiency    isolated growth hormone deficiency type 1b    isolated growth hormone deficiency type 1a    marasmus
    kowarski syndrome    isolated growth hormone deficiency, type ib, gh1-related    isolated growth hormone deficiency type 2    fibrous dysplasia
    isolated growth hormone deficiency    protein-deficiency anemia    adenohypophysitis    leptin deficiency
    laron syndrome    acromegaly    floating-harbor syndrome    laurence-moon syndrome
    hypoadrenalism    gigantism    mccune albright syndrome    pituitary apoplexy

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

    Find genes that share disorders with GH1           About GenesLikeMe

    Selected 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)
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    PubMed articles for GH1 gene, integrated from 10 sources (see all 2440):
    (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. (J. Clin. Endocrinol. Metab. 2001)
    2. Genetic screening of a Dutch population with isolated GH deficiency (IGHD). (PubMed id 18785993)1, 4, 9 de Graaff L.C....Hokken-Koelega A.C. (Clin. Endocrinol. (Oxf) 2009)
    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. (Horm Res Paediatr 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. (amp 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. (J. Clin. Endocrinol. Metab. 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. (J. Clin. Endocrinol. Metab. 2004)
    7. Biologically inactive growth hormone caused by an amino acid substitution. (PubMed id 9276733)1, 2, 9 Takahashi Y.... Chihara K. (J. Clin. Invest. 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. (Hum. Mol. Genet. 1993)
    9. A population-based study of IGF axis polymorphisms and the esophageal inflammation, metaplasia, adenocarcinoma sequence. (PubMed id 20403354)1, 4 McElholm A.R....Murray L.J. (Gastroenterology 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. (amp 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2688 HGNC: 4261 AceView: CSH1andGH2andCSH2 Ensembl:ENSG00000259384 euGenes: HUgn2688
    ECgene: GH1 Kegg: 2688 H-InvDB: GH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=GH1[genesymbol]
    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.)
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    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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