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GH1 Gene

protein-coding   GIFtS: 66

GC17M057362
growth hormone 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
growth hormone 11 2 3     Pituitary growth hormone2 3
GH1 2 3     IGHD1B2 5
GH-N1 2 3     somatotropin2
GHN1 2 5     Growth hormone3
hGH-N1 2     

External Ids:    HGNC: 42611   Entrez Gene: 26882   Ensembl: ENSG000001891627   UniProtKB: P012413   

Export aliases for GH1 gene to outside databases

Previous GC identifers: GC17U990034 GC17M064420 GC17M062292 GC17M062424 GC17M062467 GC17M059348 GC17M061994


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

Entrez Gene summary for GH1:
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)

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)

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GH1 gene promoter:
         STAT5B   SREBP-1b   SREBP-1c   SREBP-1a   NF-kappaB1   STAT5A   RP58   FOXF2   POU3F2 (N-Oct-5b)   POU3F2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for GH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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 gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M057362:  view genomic region     (about GC identifiers)

Start:
57,362,255 bp from pter
End:
57,363,890 bp from pter
Size:
1,636 bases
Orientation:
minus strand

1 alternative location:
Chr17- 61,994,561-61,996,350     
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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
PDB structures from and Proteopedia :
1A22 (3D)    1AXI (3D)    1BP3 (3D)    1HGU (3D)    1HUW (3D)    1HWG (3D)    1HWH (3D)    1KF9 (3D)    
3HHR (3D)    
Secondary accessions: Q14405 Q16631 Q5EB53 Q9HBZ1 Q9UMJ7 Q9UNL5
Alternative splicing: 4 isoforms:  P01241-1   P01241-2   P01241-3   P01241-4   (Additional isoforms seem to exist)

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000386136 ENSP00000407853 ENSP00000339278 ENSP00000343791 ENSP00000408486 ENSP00000312673 
    ENSP00000402287 ENSP00000415587 ENSP00000414142 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich Proteins for GH1
    R&D Systems Recombinant & Natural Proteins for GH1 (Growth Hormone)
    Enzo Life Sciences proteins for GH1
    OriGene Purified Proteins (see all 2): GH1
    OriGene Protein Over-expression Lysate (see all 2): GH1
    GenScript Custom Purified and Recombinant Proteins Services for GH1 
    Novus Biologicals Proteins for GH1
    Novus Biologicals Lysates for GH1
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for GH1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005615 extracellular space IDA11549663
    About this table

    GH1 for ontologies           About GeneDecksing



    Antibodies for GH1: 
    Millipore Mono- and Polyclonal Antibodies for the study of GH1
    Sigma-Aldrich Antibodies for GH1
    R&D Systems Antibodies for GH1 (Growth Hormone)
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for GH1 
    Novus Biologicals Antibodies for GH1
    Epitomics antibodies for GH1

    Assays for GH1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    R&D Systems ELISAs for GH1 (Growth Hormone)
    GenScript Custom Assay Services for GH1 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GH1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB001400 Somatotropin hormone

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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GH1
    Sigma-Aldrich shRNA Panels and shRNA for GH1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 5): GH1
    OriGene shRNA RFP (see all 5): GH1
    OriGene basic RS shRNA (see all 5): GH1
    OriGene siRNA (see all 5): GH1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GH1 
    miRNA:Sigma-Aldrich microRNA Mimics for GH1
    Sigma-Aldrich microRNA target validation systems for GH1 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GH1 
    Search SABiosciences for Assays for microRNAs that regulate GH1

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): GH1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): GH1
    OriGene untagged cDNA clones in CMV expression vector (see all 5): GH1
    OriGene 3'-UTR clone (see all 5): GH1 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 5): GH1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for GH1 

    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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005131 growth hormone receptor binding IPI1549776
    GO:0005148 prolactin receptor binding IPI7984244
    GO:0005179 hormone activity IEA--
    GO:0005515 protein binding IPI9353194
    GO:0008083 growth factor activity IPI9360546
    About this table

    GH1 for ontologies           About GeneDecksing

    Animal Models: 6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gh):

    adipose tissueendocrine/exocrine glandgrowth/sizeliver/biliary systemnervous system
    reproductive system

    GH1 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    GH1 for pathways           About GeneDecksing

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

    5 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  GH1
        Cholecystokinin/Gastrin-mediated Signaling
    Growth Hormone Signaling
    TR/RXR Activation
    PPARα/RXRα Activation
    NF-κB Signaling

    3 Kegg Pathways  (Kegg details for GH1):
        hsa04060 Cytokine-cytokine receptor interaction
    hsa04080 Neuroactive ligand-receptor interaction
    hsa04630 Jak-STAT signaling pathway

        SABiosciences Pathway-Focused PCR Array including GH1: PAHS-017A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GH1
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GH1

    5/23 Interacting proteins for GH1 (ENSP000003126733 P012411) via UniProtKB, MINT, and/or STRING (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GHRP109121STRING: ENSP00000230882 EBI-1026046,EBI-286316
    CACYBPQ9HB711EBI-1026046,EBI-1047302
    LTA4HP099601EBI-1026046,EBI-721089
    PRLRP164711EBI-1026046,EBI-476182
    STRAPQ9Y3F41EBI-1026046,EBI-727414
    About this table

    5/14 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 14):

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

    GH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    GH1 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GH1 available from Tocris Bioscience
    CompoundAction CAS number
    GRF (ovine)Stimulates growth hormone release--
    About this table


    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 chemical compound relationships for GH1 gene (see all 132)
    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)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GH1
    Sigma-Aldrich shRNA Panels and shRNA for GH1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 5): GH1
    OriGene shRNA RFP (see all 5): GH1
    OriGene basic RS shRNA (see all 5): GH1
    OriGene siRNA (see all 5): GH1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GH1 
    miRNA: Sigma-Aldrich microRNA Mimics for GH1
    Sigma-Aldrich microRNA target validation systems for GH1 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GH1 
    Search SABiosciences for Assays for microRNAs that regulate GH1
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): GH1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): GH1
    OriGene untagged cDNA clones in CMV expression vector (see all 5): GH1
    OriGene 3'-UTR Clone (see all 5): GH1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 5): GH1 
    Primers: OriGene genome-wide validated SYBR primer pairs: GH1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for GH1: PPH00577A

    REFSEQ mRNAs for GH1 gene (5 alternative transcripts): 

    NM_000515.3  NM_022559.2  NM_022560.2  NM_022561.2  NM_022562.2  

    Additional cDNA 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):

    CR607493 CR618132 CR597599 CR607891 CR597749 CR622588 CR595921 CR599531 
    CR619097 CR620140 CR590740 CR624109 CR609696 CR596447 NM_022557 CR605118 
    CR613416 CR608232 CR590632 CR592104 NM_022642 CR604889 CR598457 CR598505 

    highest scoring ESTs for GH1:

    AV746364 AV747827 AV748085 AV748778 AV749774 AV750176 BF996851 BG003300 BG003326 BI050252 

    Unigene Cluster for GH1:

    Growth hormone 1
    Hs.655229  [show with all ESTs]
    Unigene Representative Sequence: CD516340


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GH1 (see all 6)

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d
    SP1:                    -     -                                                               
    SP2:                    -     -                 -                                             
    SP3:                    -     -                 -     -     -                                 
    SP4:                                            -     -                                       
    SP5:                                                                                          

    About this scheme

    ECgene alternative splicing isoforms for GH1
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000408987 ENST00000441409(uc002jdl.2 uc002jdn.2) ENST00000342364
    ENST00000351388 ENST00000458650 ENST00000323322 ENST00000427586 ENST00000417929(uc002jdm.2)
    ENST00000452158(uc002jdi.2 uc002jdj.2 uc002jdk.2)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    GH1 expression in normal and diseased human tissues

    1  / 2  / 3

    13 probe-sets matching GH1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    1332_f_at2, 3 U95-A 4 0.75 0.85 1.00 1.00 V00520 0.20 1.00 0.72 1
    211151_x_at2, 3 U133-A 5 1.00 0.72 -- -- AF185611 0.40 0.67 0.55 1
    206885_x_at2, 3 U133-A 5 0.91 0.84 -- -- NM_022559 0.40 0.67 0.55 1
    205840_x_at2, 3 U133-A 5 0.91 0.80 -- -- NM_000515 0.40 0.67 0.55 1
    206886_x_at2, 3 U133-A 5 0.82 0.77 -- -- NM_022560 0.40 0.67 0.55 1
    208068_x_at2, 3 U133-A 5 0.82 0.69 -- -- NM_022562 0.40 0.67 0.55 1
    208069_x_at2, 3 U133-A 5 0.82 0.63 -- -- NM_022561 0.40 0.67 0.55 1
    211151_x_at2 U133Plus2 5 1.00 0.72 -- -- -- -- -- -- --
    206885_x_at2 U133Plus2 5 0.91 0.84 -- -- -- -- -- -- --
    205840_x_at2 U133Plus2 5 0.91 0.80 -- -- -- -- -- -- --
    206886_x_at2 U133Plus2 5 0.82 0.77 -- -- -- -- -- -- --
    208068_x_at2 U133Plus2 5 0.82 0.69 -- -- -- -- -- -- --
    208069_x_at2 U133Plus2 5 0.82 0.63 -- -- -- -- -- -- --
    About this table

    GH1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    GH1 gene expression
    GH1 gene electronic northern expression
    GH1 gene sage expression
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.655229
    Primers: OriGene genome-wide validated SYBR primer pairs: GH1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for GH1: PPH00577A
        SABiosciences Expression via Pathway-Focused PCR Array including GH1: PAHS-017A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for GH1 gene from 1 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    mouse
    (Mus musculus)
    Gh5 11 (68.89 cM) growth hormone   -- X02891 
    About this table        Species with no ortholog for GH1

    ENSEMBL Gene Tree for GH1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for GH1 gene
    GH22  CSH22  CSH12  CSHL12  

    GH1 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/120 NCBI SNPs in GH1 are shown (see all 120)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs6951,2
    C,F,A61996199(-) RGCTCA/C/TAGSAT 4 -- ng5113MN EU WA EA NA 994
    rs53881,2
    C,F61995170(-) GCAACG/ATCTAT 7 /I /V int1 mis1 ref1 ese39Minor allele frequency- A:0.01MN EU NS EA 1593
    rs61711,2
    C,F,A,H61996204(-) AGACCA/GGCTCA 4 -- ng5116Minor allele frequency- G:0.41MN EU WA EA NA 810
    rs61721,2
    C61996174(-) CCCCGA/CACCAC 4 -- ut5111Minor allele frequency- C:0.02MN EU WA EA 729
    rs61731,2
    C,F,A61996140(+) ATTGCA/CGCTAG 4 -- ut5110Minor allele frequency- C:0.25MN EU WA EA 818
    rs61741,2
    C61995262(-) CATCTC/GCCTGC 7 S C int1 ref1 mis1 ese35Minor allele frequency- G:0.01MN NS EA 496
    rs61751,2
    C,F,A61996196(-) TCAAGG/CATCCC 4 -- ut5111Minor allele frequency- C:0.05MN EU WA EA 638
    rs18110811,2
    C,F61996506(-) CCTTCG/TCCGCG 4 -- ng513Minor allele frequency- T:0.16EU WA EA 148
    rs19744351,2
    C,A,H,61994096(-) AGTTGC/TTTGCT 4 -- ng319Minor allele frequency- T:0.39NA WA 136
    rs20013441,2
    C,F,A,61996007(+) GCTTAC/GATGGC 4 -- int19Minor allele frequency- G:0.07NS EA EU WA 550
    About this table

    HapMap Linkage Disequilibrium images for GH1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GH1
         1 CNV: 67243

    QIAGEN SeqTarget long-range PCR primers for resequencing GH1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GH1 for disorders           About GeneDecksing

    OMIM: 139250   disorders: 262400  612781  173100  262650  

    UniProtKB/Swiss-Prot: SOMA_HUMAN, P01241

  • Defects in GH1 are a cause of growth hormone deficiency isolated type 1A (IGHD1A) [MIM:262400]; also known as
  • pituitary dwarfism I. IGHD1A is an autosomal recessive deficiency of GH which causes short stature. IGHD1A patients
    have an absence of GH with severe dwarfism and often develop anti-GH antibodies when given exogenous GH
  • Defects in GH1 are a cause of growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]; also known as
  • dwarfism of Sindh. IGHD1B is an autosomal recessive deficiency of GH which causes short stature. IGHD1B patients have
    low but detectable levels of GH. Dwarfism is less severe than in IGHD1A and patients usually respond well to exogenous
    GH
  • Defects in GH1 are the cause of Kowarski syndrome [MIM:262650]; also known as pituitary dwarfism VI
  • Defects in GH1 are a cause of growth hormone deficiency isolated type 2 (IGHD2) [MIM:173100]. IGHD2 is an
  • autosomal dominant deficiency of GH which causes short stature. Clinical severity is variable. Patients have a
    positive response and immunologic tolerance to growth hormone therapy

    10/96 Novoseek disease relationships for GH1 gene (see all 96)

    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)
    About this table

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

    Human Gene Mutation Database (HGMD): GH1
    Genetic Association Database (GAD): GH1
    Human Genome Epidemiology (HuGE) Navigator: GH1 (34 documents)
    Tumor Gene Database (TGDB): GH1

    Export disorders and mutations for GH1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

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

    10/2350 PubMed articles for GH1 gene, integrated from 7 sources (see all 2350):
    (articles sorted by number of sources associating them with GH1)
    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, 7 Deladoey J.... Mullis P.E. (2001)
    2. 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, 7 Canzian F....Kaaks R. (2005)
    3. Polymorphism in the growth hormone gene, weight in infancy, and adult bone mass. (PubMed id 15472182)1, 4, 7 Dennison E.M....Cooper C. (2004)
    4. A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. (PubMed id 15001589)1, 2, 7 Lewis M.D.... Cooper D.N. (2004)
    5. Biologically inactive growth hormone caused by an amino acid substitution. (PubMed id 9276733)1, 2, 7 Takahashi Y.... Chihara K. (1997)
    6. 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, 7 Igarashi Y....Koga J. (1993)
    7. Phosphoproteomic analysis of the human pituitary. (PubMed id 16807684)1, 2 Beranova-Giorgianni S.... Giorgianni F. (2006)
    8. Association between fetal growth restriction and polymorphisms at sites -1 and +3 of pituitary growth hormone: a case-control study. (PubMed id 15691369)1, 4 Adkins R.M....Boyd T.K. (2005)
    9. Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone. (PubMed id 16284391)1, 4 Mulhall C....Boyd N.F. (2005)
    10. Association of polymorphisms and haplotypes in the human growth hormone 1 (GH1) gene with breast cancer. (PubMed id 16322331)1, 4 Wagner K....Forsti A. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    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:ENSG00000189162 euGenes: HUgn2688
    ECgene: GH1 Kegg: 2688 H-InvDB: GH1

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for GH1 Genetics and Cytogenetics in Oncology and Haematology
    Mammary Transgene Database (MTDB) entry for GH1More genetic and clinical information
    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 XenneX, Inc.)
    About This Section
    Patent Information for GH1 gene:
    Search GeneIP for patents involving GH1

    GeneCards and IP:
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