Atlas of Genetics and Cytogenetics in Oncology and Haematology


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H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase)

Identity

Alias_namesGDH
glucose dehyrogenase
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
Other aliasCORTRD1
G6PDH
HGNC (Hugo) H6PD
LocusID (NCBI) 9563
Atlas_Id 40786
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 9239844 and ends at 9271335 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)
H6PD (1p36.22) / CRISP3 (6p12.3)H6PD (1p36.22) / EPHB2 (1p36.12)H6PD (1p36.22) / H6PD (1p36.22)
H6PD (1p36.22) / METTL16 (17p13.3)H6PD (1p36.22) / PEX14 (1p36.22)H6PD (1p36.22) / TWIST1 (7p21.1)
SPSB1 (1p36.22) / H6PD (1p36.22)H6PD 1p36.22 / CRISP3 6p12.3SPSB1 1p36.22 / H6PD 1p36.22

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)H6PD   4795
Cards
Entrez_Gene (NCBI)H6PD  9563  hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
AliasesCORTRD1; G6PDH; GDH
GeneCards (Weizmann)H6PD
Ensembl hg19 (Hinxton)ENSG00000049239 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000049239 [Gene_View]  chr1:9239844-9271335 [Contig_View]  H6PD [Vega]
ICGC DataPortalENSG00000049239
TCGA cBioPortalH6PD
AceView (NCBI)H6PD
Genatlas (Paris)H6PD
WikiGenes9563
SOURCE (Princeton)H6PD
Genetics Home Reference (NIH)H6PD
Genomic and cartography
GoldenPath hg38 (UCSC)H6PD  -     chr1:9239844-9271335 +  1p36.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)H6PD  -     1p36.22   [Description]    (hg19-Feb_2009)
EnsemblH6PD - 1p36.22 [CytoView hg19]  H6PD - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBIH6PD [Mapview hg19]  H6PD [Mapview hg38]
OMIM138090   604931   
Gene and transcription
Genbank (Entrez)AJ012590 AK024548 AK026460 AK091191 AL833024
RefSeq transcript (Entrez)NM_001282587 NM_004285
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)H6PD
Cluster EST : UnigeneHs.463511 [ NCBI ]
CGAP (NCI)Hs.463511
Alternative Splicing GalleryENSG00000049239
Gene ExpressionH6PD [ NCBI-GEO ]   H6PD [ EBI - ARRAY_EXPRESS ]   H6PD [ SEEK ]   H6PD [ MEM ]
Gene Expression Viewer (FireBrowse)H6PD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9563
GTEX Portal (Tissue expression)H6PD
Human Protein AtlasENSG00000049239-H6PD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95479   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95479  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95479
Splice isoforms : SwissVarO95479
Catalytic activity : Enzyme1.1.1.47 [ Enzyme-Expasy ]   1.1.1.471.1.1.47 [ IntEnz-EBI ]   1.1.1.47 [ BRENDA ]   1.1.1.47 [ KEGG ]   
PhosPhoSitePlusO95479
Domaine pattern : Prosite (Expaxy)G6P_DEHYDROGENASE (PS00069)   
Domains : Interpro (EBI)6-phosphogluconolactonase_DevB    G6P_DH    G6P_DH_AS    G6P_DH_C    G6P_DH_NAD-bd    Glc/Gal-6P_isomerase    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)G6PD_C (PF02781)    G6PD_N (PF00479)    Glucosamine_iso (PF01182)   
Domain families : Pfam (NCBI)pfam02781    pfam00479    pfam01182   
Conserved Domain (NCBI)H6PD
DMDM Disease mutations9563
Blocks (Seattle)H6PD
SuperfamilyO95479
Human Protein Atlas [tissue]ENSG00000049239-H6PD [tissue]
Peptide AtlasO95479
HPRD00681
IPIIPI00607861   
Protein Interaction databases
DIP (DOE-UCLA)O95479
IntAct (EBI)O95479
FunCoupENSG00000049239
BioGRIDH6PD
STRING (EMBL)H6PD
ZODIACH6PD
Ontologies - Pathways
QuickGOO95479
Ontology : AmiGOglucose-6-phosphate dehydrogenase activity  endoplasmic reticulum lumen  glucose metabolic process  pentose-phosphate shunt  6-phosphogluconolactonase activity  glucose 1-dehydrogenase [NAD(P)] activity  NADP binding  oxidation-reduction process  
Ontology : EGO-EBIglucose-6-phosphate dehydrogenase activity  endoplasmic reticulum lumen  glucose metabolic process  pentose-phosphate shunt  6-phosphogluconolactonase activity  glucose 1-dehydrogenase [NAD(P)] activity  NADP binding  oxidation-reduction process  
Pathways : KEGGPentose phosphate pathway   
NDEx NetworkH6PD
Atlas of Cancer Signalling NetworkH6PD
Wikipedia pathwaysH6PD
Orthology - Evolution
OrthoDB9563
GeneTree (enSembl)ENSG00000049239
Phylogenetic Trees/Animal Genes : TreeFamH6PD
HOVERGENO95479
HOGENOMO95479
Homologs : HomoloGeneH6PD
Homology/Alignments : Family Browser (UCSC)H6PD
Gene fusions - Rearrangements
Fusion : MitelmanH6PD/CRISP3 [1p36.22/6p12.3]  
Fusion : MitelmanSPSB1/H6PD [1p36.22/1p36.22]  [t(1;1)(p36;p36)]  
Fusion: TCGAH6PD 1p36.22 CRISP3 6p12.3 PRAD
Fusion: TCGASPSB1 1p36.22 H6PD 1p36.22 THCA
Fusion: Tumor Portal H6PD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerH6PD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)H6PD
dbVarH6PD
ClinVarH6PD
1000_GenomesH6PD 
Exome Variant ServerH6PD
ExAC (Exome Aggregation Consortium)ENSG00000049239
GNOMAD BrowserENSG00000049239
Genetic variants : HAPMAP9563
Genomic Variants (DGV)H6PD [DGVbeta]
DECIPHERH6PD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisH6PD 
Mutations
ICGC Data PortalH6PD 
TCGA Data PortalH6PD 
Broad Tumor PortalH6PD
OASIS PortalH6PD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICH6PD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDH6PD
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch H6PD
DgiDB (Drug Gene Interaction Database)H6PD
DoCM (Curated mutations)H6PD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)H6PD (select a term)
intoGenH6PD
Cancer3DH6PD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138090    604931   
Orphanet17778   
MedgenH6PD
Genetic Testing Registry H6PD
NextProtO95479 [Medical]
TSGene9563
GENETestsH6PD
Target ValidationH6PD
Huge Navigator H6PD [HugePedia]
snp3D : Map Gene to Disease9563
BioCentury BCIQH6PD
ClinGenH6PD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9563
Chemical/Pharm GKB GenePA29170
Clinical trialH6PD
Miscellaneous
canSAR (ICR)H6PD (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineH6PD
EVEXH6PD
GoPubMedH6PD
iHOPH6PD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:52:19 CET 2017

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