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ATP5H (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d)

Identity

Alias_namesATP synthase, H+ transporting, mitochondrial F0 complex, subunit d
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d
Alias_symbol (synonym)ATPQ
ATP5JD
Other alias
HGNC (Hugo) ATP5H
LocusID (NCBI) 10476
Atlas_Id 60628
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 73034955 and ends at 73043074 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)ATP5H   845
Cards
Entrez_Gene (NCBI)ATP5H  10476  ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d
AliasesATPQ
GeneCards (Weizmann)ATP5H
Ensembl hg19 (Hinxton)ENSG00000167863 [Gene_View]  chr17:73034955-73043074 [Contig_View]  ATP5H [Vega]
Ensembl hg38 (Hinxton)ENSG00000167863 [Gene_View]  chr17:73034955-73043074 [Contig_View]  ATP5H [Vega]
ICGC DataPortalENSG00000167863
TCGA cBioPortalATP5H
AceView (NCBI)ATP5H
Genatlas (Paris)ATP5H
WikiGenes10476
SOURCE (Princeton)ATP5H
Genetics Home Reference (NIH)ATP5H
Genomic and cartography
GoldenPath hg19 (UCSC)ATP5H  -     chr17:73034955-73043074 -  17q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP5H  -     17q25.1   [Description]    (hg38-Dec_2013)
EnsemblATP5H - 17q25.1 [CytoView hg19]  ATP5H - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBIATP5H [Mapview hg19]  ATP5H [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA608885 AF061735 AF070650 AF086159 AF087135
RefSeq transcript (Entrez)NM_001003785 NM_006356
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)ATP5H
Cluster EST : UnigeneHs.514465 [ NCBI ]
CGAP (NCI)Hs.514465
Alternative Splicing GalleryENSG00000167863
Gene ExpressionATP5H [ NCBI-GEO ]   ATP5H [ EBI - ARRAY_EXPRESS ]   ATP5H [ SEEK ]   ATP5H [ MEM ]
Gene Expression Viewer (FireBrowse)ATP5H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10476
GTEX Portal (Tissue expression)ATP5H
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75947   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75947  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75947
Splice isoforms : SwissVarO75947
PhosPhoSitePlusO75947
Domains : Interpro (EBI)ATPase_F0-cplx_dsu_mt   
Domain families : Pfam (Sanger)Mt_ATP-synt_D (PF05873)   
Domain families : Pfam (NCBI)pfam05873   
Conserved Domain (NCBI)ATP5H
DMDM Disease mutations10476
Blocks (Seattle)ATP5H
SuperfamilyO75947
Human Protein AtlasENSG00000167863
Peptide AtlasO75947
HPRD16519
IPIIPI00220487   IPI00456049   IPI00792135   IPI01012080   
Protein Interaction databases
DIP (DOE-UCLA)O75947
IntAct (EBI)O75947
FunCoupENSG00000167863
BioGRIDATP5H
STRING (EMBL)ATP5H
ZODIACATP5H
Ontologies - Pathways
QuickGOO75947
Ontology : AmiGOmitochondrial proton-transporting ATP synthase complex, coupling factor F(o)  nucleoplasm  cytoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial proton-transporting ATP synthase complex  hydrogen ion transmembrane transporter activity  ATPase activity  transmembrane transporter activity  respiratory electron transport chain  mitochondrial ATP synthesis coupled proton transport  mitochondrial ATP synthesis coupled proton transport  cellular metabolic process  small molecule metabolic process  extracellular exosome  
Ontology : EGO-EBImitochondrial proton-transporting ATP synthase complex, coupling factor F(o)  nucleoplasm  cytoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial proton-transporting ATP synthase complex  hydrogen ion transmembrane transporter activity  ATPase activity  transmembrane transporter activity  respiratory electron transport chain  mitochondrial ATP synthesis coupled proton transport  mitochondrial ATP synthesis coupled proton transport  cellular metabolic process  small molecule metabolic process  extracellular exosome  
Pathways : KEGGOxidative phosphorylation    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkATP5H
Atlas of Cancer Signalling NetworkATP5H
Wikipedia pathwaysATP5H
Orthology - Evolution
OrthoDB10476
GeneTree (enSembl)ENSG00000167863
Phylogenetic Trees/Animal Genes : TreeFamATP5H
HOVERGENO75947
HOGENOMO75947
Homologs : HomoloGeneATP5H
Homology/Alignments : Family Browser (UCSC)ATP5H
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP5H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP5H
dbVarATP5H
ClinVarATP5H
1000_GenomesATP5H 
Exome Variant ServerATP5H
ExAC (Exome Aggregation Consortium)ATP5H (select the gene name)
Genetic variants : HAPMAP10476
Genomic Variants (DGV)ATP5H [DGVbeta]
DECIPHER (Syndromes)17:73034955-73043074  ENSG00000167863
CONAN: Copy Number AnalysisATP5H 
Mutations
ICGC Data PortalATP5H 
TCGA Data PortalATP5H 
Broad Tumor PortalATP5H
OASIS PortalATP5H [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP5H  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP5H
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ATP5H
DgiDB (Drug Gene Interaction Database)ATP5H
DoCM (Curated mutations)ATP5H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP5H (select a term)
intoGenATP5H
Cancer3DATP5H(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenATP5H
Genetic Testing Registry ATP5H
NextProtO75947 [Medical]
TSGene10476
GENETestsATP5H
Huge Navigator ATP5H [HugePedia]
snp3D : Map Gene to Disease10476
BioCentury BCIQATP5H
ClinGenATP5H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10476
Chemical/Pharm GKB GenePA25135
Clinical trialATP5H
Miscellaneous
canSAR (ICR)ATP5H (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP5H
EVEXATP5H
GoPubMedATP5H
iHOPATP5H
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:55:23 CET 2017

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