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GH1 (growth hormone 1)

Identity

Other namesGH
GH-N
GHN
IGHD1B
hGH-N
HGNC (Hugo) GH1
LocusID (NCBI) 2688
Location 17q23.3
Location_base_pair Starts at 61994553 and ends at 61996212 bp from pter ( according to hg19-Feb_2009)
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

 

External links

Nomenclature
HGNC (Hugo)GH1   4261
Cards
Entrez_Gene (NCBI)GH1  2688  growth hormone 1
GeneCards (Weizmann)GH1
Ensembl (Hinxton)ENSG00000259384 [Gene_View]  chr17:61994553-61996212 [Contig_View]  GH1 [Vega]
ICGC DataPortalENSG00000259384
cBioPortalGH1
AceView (NCBI)GH1
Genatlas (Paris)GH1
WikiGenes2688
SOURCE (Princeton)NM_000515 NM_022559 NM_022560 NM_022561 NM_022562
Genomic and cartography
GoldenPath (UCSC)GH1  -  17q23.3   chr17:61994553-61996212 -  17q23.3   [Description]    (hg19-Feb_2009)
EnsemblGH1 - 17q23.3 [CytoView]
Mapping of homologs : NCBIGH1 [Mapview]
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)AC_000149 NC_000017 NC_018928 NG_011676 NT_010783 NW_001838450 NW_004929407
Consensus coding sequences : CCDS (NCBI)GH1
Cluster EST : UnigeneHs.655229 [ NCBI ]
CGAP (NCI)Hs.655229
Alternative Splicing : Fast-db (Paris)GSHG0013648
Alternative Splicing GalleryENSG00000259384
Gene ExpressionGH1 [ NCBI-GEO ]     GH1 [ SEEK ]   GH1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01241 (Uniprot)
NextProtP01241  [Medical]
With graphics : InterProP01241
Splice isoforms : SwissVarP01241 (Swissvar)
Domaine pattern : Prosite (Expaxy)SOMATOTROPIN_1 (PS00266)    SOMATOTROPIN_2 (PS00338)   
Domains : Interpro (EBI)4_helix_cytokine-like_core [organisation]   4_helix_cytokine_core [organisation]   Somatotropin [organisation]   Somatotropin_CS [organisation]  
Related proteins : CluSTrP01241
Domain families : Pfam (Sanger)Hormone_1 (PF00103)   
Domain families : Pfam (NCBI)pfam00103   
DMDM Disease mutations2688
Blocks (Seattle)P01241
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   
Human Protein AtlasENSG00000259384 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP01241
HPRD00751
IPIIPI00218283   IPI00218284   IPI00942145   IPI00383714   IPI00845467   
Protein Interaction databases
DIP (DOE-UCLA)P01241
IntAct (EBI)P01241
FunCoupENSG00000259384
BioGRIDGH1
InParanoidP01241
Interologous Interaction database P01241
IntegromeDBGH1
STRING (EMBL)GH1
Ontologies - Pathways
Ontology : AmiGOpositive regulation of receptor internalization  growth hormone receptor binding  growth hormone receptor binding  prolactin receptor binding  hormone activity  protein binding  extracellular region  extracellular space  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  hormone activity  protein binding  extracellular region  extracellular space  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   
Protein Interaction DatabaseGH1
Wikipedia pathwaysGH1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GH1
snp3D : Map Gene to Disease2688
SNP (GeneSNP Utah)GH1
SNP : HGBaseGH1
Genetic variants : HAPMAPGH1
Exome VariantGH1
1000_GenomesGH1 
ICGC programENSG00000259384 
Somatic Mutations in Cancer : COSMICGH1 
CONAN: Copy Number AnalysisGH1 
Mutations and Diseases : HGMDGH1
Genomic VariantsGH1  GH1 [DGVbeta]
dbVarGH1
ClinVarGH1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM139250    173100    262400    262650    612781   
MedgenGH1
GENETestsGH1
Disease Genetic AssociationGH1
Huge Navigator GH1 [HugePedia]  GH1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneGH1
Homology/Alignments : Family Browser (UCSC)GH1
Phylogenetic Trees/Animal Genes : TreeFamGH1
Chemical/Protein Interactions : CTD2688
Chemical/Pharm GKB GenePA171
Clinical trialGH1
Cancer Resource (Charite)ENSG00000259384
Other databases
Probes
Litterature
PubMed368 Pubmed reference(s) in Entrez
CoreMineGH1
iHOPGH1
OncoSearchGH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:32:45 CEST 2014

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