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ATP5D (ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit)

Identity

Other alias-
HGNC (Hugo) ATP5D
LocusID (NCBI) 513
Atlas_Id 60623
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 1241749 and ends at 1244824 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP5D (19p13.3) / RPSA (3p22.1)

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)ATP5D   837
Cards
Entrez_Gene (NCBI)ATP5D  513  ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit
Aliases
GeneCards (Weizmann)ATP5D
Ensembl hg19 (Hinxton)ENSG00000099624 [Gene_View]  chr19:1241749-1244824 [Contig_View]  ATP5D [Vega]
Ensembl hg38 (Hinxton)ENSG00000099624 [Gene_View]  chr19:1241749-1244824 [Contig_View]  ATP5D [Vega]
ICGC DataPortalENSG00000099624
TCGA cBioPortalATP5D
AceView (NCBI)ATP5D
Genatlas (Paris)ATP5D
WikiGenes513
SOURCE (Princeton)ATP5D
Genetics Home Reference (NIH)ATP5D
Genomic and cartography
GoldenPath hg19 (UCSC)ATP5D  -     chr19:1241749-1244824 +  19p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP5D  -     19p13.3   [Description]    (hg38-Dec_2013)
EnsemblATP5D - 19p13.3 [CytoView hg19]  ATP5D - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIATP5D [Mapview hg19]  ATP5D [Mapview hg38]
OMIM603150   
Gene and transcription
Genbank (Entrez)AK094357 BC002389 BC004426 BC018079 BC018817
RefSeq transcript (Entrez)NM_001001975 NM_001687
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929412
Consensus coding sequences : CCDS (NCBI)ATP5D
Cluster EST : UnigeneHs.418668 [ NCBI ]
CGAP (NCI)Hs.418668
Alternative Splicing GalleryENSG00000099624
Gene ExpressionATP5D [ NCBI-GEO ]   ATP5D [ EBI - ARRAY_EXPRESS ]   ATP5D [ SEEK ]   ATP5D [ MEM ]
Gene Expression Viewer (FireBrowse)ATP5D [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)513
GTEX Portal (Tissue expression)ATP5D
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30049   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP30049  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP30049
Splice isoforms : SwissVarP30049
PhosPhoSitePlusP30049
Domains : Interpro (EBI)ATPase_F1-cplx_dsu/esu    ATPase_F1-cplx_dsu/esu_N    ATPase_F1_dsu/esu_C   
Domain families : Pfam (Sanger)ATP-synt_DE_N (PF02823)   
Domain families : Pfam (NCBI)pfam02823   
Domain structure : Prodom (Prabi Lyon)ATPase_F1-cplx_dsu/esu (PD000944)   
Conserved Domain (NCBI)ATP5D
DMDM Disease mutations513
Blocks (Seattle)ATP5D
SuperfamilyP30049
Human Protein AtlasENSG00000099624
Peptide AtlasP30049
HPRD04397
IPIIPI00024920   
Protein Interaction databases
DIP (DOE-UCLA)P30049
IntAct (EBI)P30049
FunCoupENSG00000099624
BioGRIDATP5D
STRING (EMBL)ATP5D
ZODIACATP5D
Ontologies - Pathways
QuickGOP30049
Ontology : AmiGOmitochondrial proton-transporting ATP synthase complex, catalytic core F(1)  mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)  transporter activity  ATP binding  mitochondrion  mitochondrial inner membrane  mitochondrial proton-transporting ATP synthase complex  mitochondrial proton-transporting ATP synthase complex  mitochondrial matrix  oxidative phosphorylation  ATP biosynthetic process  ATP synthesis coupled proton transport  ATPase activity  transmembrane transporter activity  respiratory electron transport chain  mitochondrial ATP synthesis coupled proton transport  mitochondrial ATP synthesis coupled proton transport  mitochondrial ATP synthesis coupled proton transport  ADP binding  cellular metabolic process  small molecule metabolic process  response to copper ion  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATPase activity, rotational mechanism  
Ontology : EGO-EBImitochondrial proton-transporting ATP synthase complex, catalytic core F(1)  mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)  transporter activity  ATP binding  mitochondrion  mitochondrial inner membrane  mitochondrial proton-transporting ATP synthase complex  mitochondrial proton-transporting ATP synthase complex  mitochondrial matrix  oxidative phosphorylation  ATP biosynthetic process  ATP synthesis coupled proton transport  ATPase activity  transmembrane transporter activity  respiratory electron transport chain  mitochondrial ATP synthesis coupled proton transport  mitochondrial ATP synthesis coupled proton transport  mitochondrial ATP synthesis coupled proton transport  ADP binding  cellular metabolic process  small molecule metabolic process  response to copper ion  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATPase activity, rotational mechanism  
Pathways : KEGGOxidative phosphorylation    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkATP5D
Atlas of Cancer Signalling NetworkATP5D
Wikipedia pathwaysATP5D
Orthology - Evolution
OrthoDB513
GeneTree (enSembl)ENSG00000099624
Phylogenetic Trees/Animal Genes : TreeFamATP5D
HOVERGENP30049
HOGENOMP30049
Homologs : HomoloGeneATP5D
Homology/Alignments : Family Browser (UCSC)ATP5D
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP5D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP5D
dbVarATP5D
ClinVarATP5D
1000_GenomesATP5D 
Exome Variant ServerATP5D
ExAC (Exome Aggregation Consortium)ATP5D (select the gene name)
Genetic variants : HAPMAP513
Genomic Variants (DGV)ATP5D [DGVbeta]
DECIPHER (Syndromes)19:1241749-1244824  ENSG00000099624
CONAN: Copy Number AnalysisATP5D 
Mutations
ICGC Data PortalATP5D 
TCGA Data PortalATP5D 
Broad Tumor PortalATP5D
OASIS PortalATP5D [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP5D  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP5D
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 ATP5D
DgiDB (Drug Gene Interaction Database)ATP5D
DoCM (Curated mutations)ATP5D (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP5D (select a term)
intoGenATP5D
Cancer3DATP5D(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603150   
Orphanet
MedgenATP5D
Genetic Testing Registry ATP5D
NextProtP30049 [Medical]
TSGene513
GENETestsATP5D
Huge Navigator ATP5D [HugePedia]
snp3D : Map Gene to Disease513
BioCentury BCIQATP5D
ClinGenATP5D
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD513
Chemical/Pharm GKB GenePA25127
Clinical trialATP5D
Miscellaneous
canSAR (ICR)ATP5D (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP5D
EVEXATP5D
GoPubMedATP5D
iHOPATP5D
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 : Tue Mar 14 11:55:22 CET 2017

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