Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GH1 (growth hormone 1)

Identity

Alias_symbol (synonym)GH-N
GHN
GH
hGH-N
HGNC (Hugo) GH1
LocusID (NCBI) 2688
Atlas_Id 40711
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 61994553 and ends at 61996212 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GH1 (17q23.3) / GUSBP11 (22q11.23)GTF3C1 (16p12.1) / GH1 (17q23.3)LOC100507412 (-) / GH1 (17q23.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Uterus: Leiomyoma


External links

Nomenclature
HGNC (Hugo)GH1   4261
Cards
Entrez_Gene (NCBI)GH1  2688  growth hormone 1
AliasesGH; GH-N; GHB5; GHN; 
IGHD1B; hGH-N
GeneCards (Weizmann)GH1
Ensembl hg19 (Hinxton)ENSG00000259384 [Gene_View]  chr17:61994553-61996212 [Contig_View]  GH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000259384 [Gene_View]  chr17:61994553-61996212 [Contig_View]  GH1 [Vega]
ICGC DataPortalENSG00000259384
TCGA cBioPortalGH1
AceView (NCBI)GH1
Genatlas (Paris)GH1
WikiGenes2688
SOURCE (Princeton)GH1
Genetics Home Reference (NIH)GH1
Genomic and cartography
GoldenPath hg19 (UCSC)GH1  -     chr17:61994553-61996212 -  17q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GH1  -     17q23.3   [Description]    (hg38-Dec_2013)
EnsemblGH1 - 17q23.3 [CytoView hg19]  GH1 - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBIGH1 [Mapview hg19]  GH1 [Mapview hg38]
OMIM139250   173100   262400   262650   612781   
Gene and transcription
Genbank (Entrez)A00469 AF110644 AF185611 AV749353 AV753220
RefSeq transcript (Entrez)NM_000515 NM_022559 NM_022560 NM_022561 NM_022562
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_011676 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)GH1
Cluster EST : UnigeneHs.655229 [ NCBI ]
CGAP (NCI)Hs.655229
Alternative Splicing GalleryENSG00000259384
Gene ExpressionGH1 [ NCBI-GEO ]   GH1 [ EBI - ARRAY_EXPRESS ]   GH1 [ SEEK ]   GH1 [ MEM ]
Gene Expression Viewer (FireBrowse)GH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2688
GTEX Portal (Tissue expression)GH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01241   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01241  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01241
Splice isoforms : SwissVarP01241
PhosPhoSitePlusP01241
Domaine pattern : Prosite (Expaxy)SOMATOTROPIN_1 (PS00266)    SOMATOTROPIN_2 (PS00338)   
Domains : Interpro (EBI)4_helix_cytokine-like_core    4_helix_cytokine_core    Somatotropin    Somatotropin_CS   
Domain families : Pfam (Sanger)Hormone_1 (PF00103)   
Domain families : Pfam (NCBI)pfam00103   
Conserved Domain (NCBI)GH1
DMDM Disease mutations2688
Blocks (Seattle)GH1
PDB (SRS)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR   
PDB (PDBSum)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR   
PDB (IMB)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR   
PDB (RSDB)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR   
Structural Biology KnowledgeBase1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR   
SCOP (Structural Classification of Proteins)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR   
CATH (Classification of proteins structures)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR   
SuperfamilyP01241
Human Protein AtlasENSG00000259384
Peptide AtlasP01241
HPRD00751
IPIIPI00218283   IPI00218284   IPI00942145   IPI00383714   IPI00845467   
Protein Interaction databases
DIP (DOE-UCLA)P01241
IntAct (EBI)P01241
FunCoupENSG00000259384
BioGRIDGH1
STRING (EMBL)GH1
ZODIACGH1
Ontologies - Pathways
QuickGOP01241
Ontology : AmiGOpositive regulation of receptor internalization  growth hormone receptor binding  growth hormone receptor binding  prolactin receptor binding  prolactin receptor binding  hormone activity  protein binding  extracellular region  extracellular space  intracellular  intracellular  JAK-STAT cascade  growth factor activity  positive regulation of activation of JAK2 kinase activity  positive regulation of phosphatidylinositol 3-kinase signaling  glucose transport  response to estradiol  positive regulation of multicellular organism growth  positive regulation of multicellular organism growth  positive regulation of tyrosine phosphorylation of Stat3 protein  positive regulation of tyrosine phosphorylation of Stat5 protein  positive regulation of MAP kinase activity  positive regulation of insulin-like growth factor receptor signaling pathway  positive regulation of JAK-STAT cascade  metal ion binding  positive regulation of peptidyl-tyrosine phosphorylation  growth hormone receptor signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  bone maturation  
Ontology : EGO-EBIpositive regulation of receptor internalization  growth hormone receptor binding  growth hormone receptor binding  prolactin receptor binding  prolactin receptor binding  hormone activity  protein binding  extracellular region  extracellular space  intracellular  intracellular  JAK-STAT cascade  growth factor activity  positive regulation of activation of JAK2 kinase activity  positive regulation of phosphatidylinositol 3-kinase signaling  glucose transport  response to estradiol  positive regulation of multicellular organism growth  positive regulation of multicellular organism growth  positive regulation of tyrosine phosphorylation of Stat3 protein  positive regulation of tyrosine phosphorylation of Stat5 protein  positive regulation of MAP kinase activity  positive regulation of insulin-like growth factor receptor signaling pathway  positive regulation of JAK-STAT cascade  metal ion binding  positive regulation of peptidyl-tyrosine phosphorylation  growth hormone receptor signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  bone maturation  
Pathways : BIOCARTAGrowth Hormone Signaling Pathway [Genes]    Trefoil Factors Initiate Mucosal Healing [Genes]    Ghrelin: Regulation of Food Intake and Energy Homeostasis [Genes]    AKT Signaling Pathway [Genes]    The IGF-1 Receptor and Longevity [Genes]   
Pathways : KEGGCytokine-cytokine receptor interaction    Neuroactive ligand-receptor interaction    PI3K-Akt signaling pathway    Jak-STAT signaling pathway   
NDEx NetworkGH1
Atlas of Cancer Signalling NetworkGH1
Wikipedia pathwaysGH1
Orthology - Evolution
OrthoDB2688
GeneTree (enSembl)ENSG00000259384
Phylogenetic Trees/Animal Genes : TreeFamGH1
HOVERGENP01241
HOGENOMP01241
Homologs : HomoloGeneGH1
Homology/Alignments : Family Browser (UCSC)GH1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GH1
dbVarGH1
ClinVarGH1
1000_GenomesGH1 
Exome Variant ServerGH1
ExAC (Exome Aggregation Consortium)GH1 (select the gene name)
Genetic variants : HAPMAP2688
Genomic Variants (DGV)GH1 [DGVbeta]
DECIPHER (Syndromes)17:61994553-61996212  ENSG00000259384
CONAN: Copy Number AnalysisGH1 
Mutations
ICGC Data PortalGH1 
TCGA Data PortalGH1 
Broad Tumor PortalGH1
OASIS PortalGH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGH1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)SpainMDB
BioMutasearch GH1
DgiDB (Drug Gene Interaction Database)GH1
DoCM (Curated mutations)GH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GH1 (select a term)
intoGenGH1
Cancer3DGH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM139250    173100    262400    262650    612781   
Orphanet19210    19211    19209    7024   
MedgenGH1
Genetic Testing Registry GH1
NextProtP01241 [Medical]
TSGene2688
GENETestsGH1
Huge Navigator GH1 [HugePedia]
snp3D : Map Gene to Disease2688
BioCentury BCIQGH1
ClinGenGH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2688
Chemical/Pharm GKB GenePA171
Clinical trialGH1
Miscellaneous
canSAR (ICR)GH1 (select the gene name)
Probes
Litterature
PubMed395 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGH1
EVEXGH1
GoPubMedGH1
iHOPGH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:38:18 CET 2016

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