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GH1 (growth hormone 1)

Identity

Alias (NCBI)GH
GH-N
GHB5
GHN
IGHD1A
IGHD1B
IGHD2
hGH-N
HGNC (Hugo) GH1
HGNC Alias symbGH-N
GHN
GH
hGH-N
HGNC Alias namepituitary growth hormone
 somatotropin
LocusID (NCBI) 2688
Atlas_Id 40711
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 63917203 and ends at 63918839 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



External links

 

Nomenclature
HGNC (Hugo)GH1   4261
Cards
Entrez_Gene (NCBI)GH1    growth hormone 1
AliasesGH; GH-N; GHB5; GHN; 
IGHD1A; IGHD1B; IGHD2; hGH-N
GeneCards (Weizmann)GH1
Ensembl hg19 (Hinxton)ENSG00000259384 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000259384 [Gene_View]  ENSG00000259384 [Sequence]  chr17:63917203-63918839 [Contig_View]  GH1 [Vega]
ICGC DataPortalENSG00000259384
TCGA cBioPortalGH1
AceView (NCBI)GH1
Genatlas (Paris)GH1
SOURCE (Princeton)GH1
Genetics Home Reference (NIH)GH1
Genomic and cartography
GoldenPath hg38 (UCSC)GH1  -     chr17:63917203-63918839 -  17q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GH1  -     17q23.3   [Description]    (hg19-Feb_2009)
GoldenPathGH1 - 17q23.3 [CytoView hg19]  GH1 - 17q23.3 [CytoView hg38]
ImmunoBaseENSG00000259384
Genome Data Viewer NCBIGH1 [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)GH1
Gene ExpressionGH1 [ NCBI-GEO ]   GH1 [ EBI - ARRAY_EXPRESS ]   GH1 [ SEEK ]   GH1 [ MEM ]
Gene Expression Viewer (FireBrowse)GH1 [ Firebrowse - Broad ]
GenevisibleExpression of GH1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2688
GTEX Portal (Tissue expression)GH1
Human Protein AtlasENSG00000259384-GH1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP01241
Domaine pattern : Prosite (Expaxy)SOMATOTROPIN_1 (PS00266)    SOMATOTROPIN_2 (PS00338)   
Domains : Interpro (EBI)4_helix_cytokine-like_core    Somatotropin/Prolactin    Somatotropin_CS   
Domain families : Pfam (Sanger)Hormone_1 (PF00103)   
Domain families : Pfam (NCBI)pfam00103   
Conserved Domain (NCBI)GH1
PDB (RSDB)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR    6QIO   
PDB Europe1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR    6QIO   
PDB (PDBSum)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR    6QIO   
PDB (IMB)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR    6QIO   
Structural Biology KnowledgeBase1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR    6QIO   
SCOP (Structural Classification of Proteins)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR    6QIO   
CATH (Classification of proteins structures)1A22    1AXI    1BP3    1HGU    1HUW    1HWG    1HWH    1KF9    3HHR    6QIO   
SuperfamilyP01241
AlphaFold pdb e-kbP01241   
Human Protein Atlas [tissue]ENSG00000259384-GH1 [tissue]
HPRD00751
Protein Interaction databases
DIP (DOE-UCLA)P01241
IntAct (EBI)P01241
BioGRIDGH1
STRING (EMBL)GH1
ZODIACGH1
Ontologies - Pathways
QuickGOP01241
Ontology : AmiGOpositive regulation of receptor internalization  growth hormone receptor binding  growth hormone receptor binding  growth hormone receptor binding  prolactin receptor binding  prolactin receptor binding  hormone activity  protein binding  extracellular region  extracellular space  extracellular space  growth factor activity  growth factor activity  positive regulation of activation of Janus kinase activity  positive regulation of glucose transmembrane transport  positive regulation of phosphatidylinositol 3-kinase signaling  response to nutrient levels  endosome lumen  response to estradiol  positive regulation of multicellular organism growth  positive regulation of multicellular organism growth  positive regulation of tyrosine phosphorylation of STAT protein  positive regulation of tyrosine phosphorylation of STAT protein  positive regulation of MAP kinase activity  positive regulation of insulin-like growth factor receptor signaling pathway  positive regulation of growth  positive regulation of receptor signaling pathway via JAK-STAT  positive regulation of receptor signaling pathway via JAK-STAT  metal ion binding  animal organ development  positive regulation of peptidyl-tyrosine phosphorylation  growth hormone receptor signaling pathway  growth hormone receptor signaling pathway  growth hormone receptor signaling pathway via JAK-STAT  collagen-containing extracellular matrix  growth hormone receptor complex  bone maturation  
Ontology : EGO-EBIpositive regulation of receptor internalization  growth hormone receptor binding  growth hormone receptor binding  growth hormone receptor binding  prolactin receptor binding  prolactin receptor binding  hormone activity  protein binding  extracellular region  extracellular space  extracellular space  growth factor activity  growth factor activity  positive regulation of activation of Janus kinase activity  positive regulation of glucose transmembrane transport  positive regulation of phosphatidylinositol 3-kinase signaling  response to nutrient levels  endosome lumen  response to estradiol  positive regulation of multicellular organism growth  positive regulation of multicellular organism growth  positive regulation of tyrosine phosphorylation of STAT protein  positive regulation of tyrosine phosphorylation of STAT protein  positive regulation of MAP kinase activity  positive regulation of insulin-like growth factor receptor signaling pathway  positive regulation of growth  positive regulation of receptor signaling pathway via JAK-STAT  positive regulation of receptor signaling pathway via JAK-STAT  metal ion binding  animal organ development  positive regulation of peptidyl-tyrosine phosphorylation  growth hormone receptor signaling pathway  growth hormone receptor signaling pathway  growth hormone receptor signaling pathway via JAK-STAT  collagen-containing extracellular matrix  growth hormone receptor complex  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
Homologs : HomoloGeneGH1
Homology/Alignments : Family Browser (UCSC)GH1
Gene fusions - Rearrangements
Fusion : QuiverGH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GH1
dbVarGH1
ClinVarGH1
MonarchGH1
1000_GenomesGH1 
Exome Variant ServerGH1
GNOMAD BrowserENSG00000259384
Varsome BrowserGH1
ACMGGH1 variants
VarityP01241
Genomic Variants (DGV)GH1 [DGVbeta]
DECIPHERGH1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DGH1
Mutations and Diseases : HGMDGH1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGH1
DgiDB (Drug Gene Interaction Database)GH1
DoCM (Curated mutations)GH1
CIViC (Clinical Interpretations of Variants in Cancer)GH1
Cancer3DGH1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM139250    173100    262400    262650    612781   
Orphanet19210    19211    19209    7024   
DisGeNETGH1
MedgenGH1
Genetic Testing Registry GH1
NextProtP01241 [Medical]
GENETestsGH1
Target ValidationGH1
Huge Navigator GH1 [HugePedia]
ClinGenGH1
Clinical trials, drugs, therapy
MyCancerGenomeGH1
Protein Interactions : CTDGH1
Pharm GKB GenePA171
PharosP01241
Clinical trialGH1
Miscellaneous
canSAR (ICR)GH1
HarmonizomeGH1
DataMed IndexGH1
Probes
Litterature
PubMed442 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGH1
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 : Mon Oct 4 15:10:42 CEST 2021

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