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ATP7A (ATPase, Cu++ transporting, alpha polypeptide)

Identity

Other namesDSMAX
MK
MNK
SMAX3
HGNC (Hugo) ATP7A
LocusID (NCBI) 538
Location Xq21.1
Location_base_pair Starts at 77166153 and ends at 77305892 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)ATP7A   869
Cards
Entrez_Gene (NCBI)ATP7A  538  ATPase, Cu++ transporting, alpha polypeptide
GeneCards (Weizmann)ATP7A
Ensembl (Hinxton)ENSG00000165240 [Gene_View]  chrX:77166153-77305892 [Contig_View]  ATP7A [Vega]
ICGC DataPortalENSG00000165240
cBioPortalATP7A
AceView (NCBI)ATP7A
Genatlas (Paris)ATP7A
WikiGenes538
SOURCE (Princeton)NM_000052 NM_001282224
Genomic and cartography
GoldenPath (UCSC)ATP7A  -  Xq21.1   chrX:77166153-77305892 +  Xq21.1   [Description]    (hg19-Feb_2009)
EnsemblATP7A - Xq21.1 [CytoView]
Mapping of homologs : NCBIATP7A [Mapview]
OMIM300011   300489   304150   309400   
Gene and transcription
Genbank (Entrez)AB117973 AB208828 AK096667 AK299449 BC156437
RefSeq transcript (Entrez)NM_000052 NM_001282224
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_013224 NT_011651 NW_001842376 NW_004929444
Consensus coding sequences : CCDS (NCBI)ATP7A
Cluster EST : UnigeneHs.733232 [ NCBI ]
CGAP (NCI)Hs.733232
Alternative Splicing : Fast-db (Paris)GSHG0031635
Alternative Splicing GalleryENSG00000165240
Gene ExpressionATP7A [ NCBI-GEO ]     ATP7A [ SEEK ]   ATP7A [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ04656 (Uniprot)
NextProtQ04656  [Medical]
With graphics : InterProQ04656
Splice isoforms : SwissVarQ04656 (Swissvar)
Catalytic activity : Enzyme3.6.3.54 [ Enzyme-Expasy ]   3.6.3.543.6.3.54 [ IntEnz-EBI ]   3.6.3.54 [ BRENDA ]   3.6.3.54 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)    HMA_1 (PS01047)    HMA_2 (PS50846)   
Domains : Interpro (EBI)ATPase_P-typ_cyto_domN [organisation]   ATPase_P-typ_P_site [organisation]   ATPase_P-typ_transduc_dom_A [organisation]   Cation_transp_P-typ_ATPase_IB [organisation]   Cation_transp_P_typ_ATPase [organisation]   HAD-like_dom [organisation]   Heavy-metal-associated_CS [organisation]   HeavyMe-assoc_HMA [organisation]   HMA_Cu_ion-bd [organisation]  
Related proteins : CluSTrQ04656
Domain families : Pfam (Sanger)E1-E2_ATPase (PF00122)    HMA (PF00403)    Hydrolase (PF00702)   
Domain families : Pfam (NCBI)pfam00122    pfam00403    pfam00702   
DMDM Disease mutations538
Blocks (Seattle)Q04656
PDB (SRS)1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK   
PDB (PDBSum)1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK   
PDB (IMB)1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK   
PDB (RSDB)1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK   
Human Protein AtlasENSG00000165240 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ04656
HPRD02054
IPIIPI00028610   IPI00215614   IPI00215615   IPI00215616   IPI00215617   IPI00215619   IPI01018319   IPI01012907   IPI01015918   
Protein Interaction databases
DIP (DOE-UCLA)Q04656
IntAct (EBI)Q04656
FunCoupENSG00000165240
BioGRIDATP7A
InParanoidQ04656
Interologous Interaction database Q04656
IntegromeDBATP7A
STRING (EMBL)ATP7A
Ontologies - Pathways
Ontology : AmiGOblood vessel development  in utero embryonic development  release of cytochrome c from mitochondria  blood vessel remodeling  regulation of oxidative phosphorylation  copper-exporting ATPase activity  copper ion transmembrane transporter activity  copper ion binding  protein binding  ATP binding  late endosome  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  cytosol  plasma membrane  plasma membrane  tryptophan metabolic process  tyrosine metabolic process  catecholamine metabolic process  copper ion transport  cellular copper ion homeostasis  mitochondrion organization  lactation  locomotory behavior  response to iron(III) ion  response to zinc ion  detoxification of copper ion  regulation of gene expression  copper ion import  membrane  integral component of membrane  basolateral plasma membrane  superoxide dismutase copper chaperone activity  peptidyl-lysine modification  removal of superoxide radicals  cerebellar Purkinje cell differentiation  pyramidal neuron development  central nervous system neuron development  trans-Golgi network transport vesicle  secretory granule  extracellular matrix organization  collagen fibril organization  hair follicle morphogenesis  brush border membrane  copper-dependent protein binding  ion transmembrane transport  T-helper cell differentiation  epinephrine metabolic process  norepinephrine metabolic process  dopamine metabolic process  norepinephrine biosynthetic process  serotonin metabolic process  neuron projection  neuronal cell body  positive regulation of catalytic activity  pigmentation  negative regulation of neuron apoptotic process  skin development  ATP metabolic process  elastic fiber assembly  lung alveolus development  perinuclear region of cytoplasm  negative regulation of metalloenzyme activity  positive regulation of metalloenzyme activity  neuron projection morphogenesis  dendrite morphogenesis  cartilage development  positive regulation of oxidoreductase activity  elastin biosynthetic process  transmembrane transport  copper ion export  
Ontology : EGO-EBIblood vessel development  in utero embryonic development  release of cytochrome c from mitochondria  blood vessel remodeling  regulation of oxidative phosphorylation  copper-exporting ATPase activity  copper ion transmembrane transporter activity  copper ion binding  protein binding  ATP binding  late endosome  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  cytosol  plasma membrane  plasma membrane  tryptophan metabolic process  tyrosine metabolic process  catecholamine metabolic process  copper ion transport  cellular copper ion homeostasis  mitochondrion organization  lactation  locomotory behavior  response to iron(III) ion  response to zinc ion  detoxification of copper ion  regulation of gene expression  copper ion import  membrane  integral component of membrane  basolateral plasma membrane  superoxide dismutase copper chaperone activity  peptidyl-lysine modification  removal of superoxide radicals  cerebellar Purkinje cell differentiation  pyramidal neuron development  central nervous system neuron development  trans-Golgi network transport vesicle  secretory granule  extracellular matrix organization  collagen fibril organization  hair follicle morphogenesis  brush border membrane  copper-dependent protein binding  ion transmembrane transport  T-helper cell differentiation  epinephrine metabolic process  norepinephrine metabolic process  dopamine metabolic process  norepinephrine biosynthetic process  serotonin metabolic process  neuron projection  neuronal cell body  positive regulation of catalytic activity  pigmentation  negative regulation of neuron apoptotic process  skin development  ATP metabolic process  elastic fiber assembly  lung alveolus development  perinuclear region of cytoplasm  negative regulation of metalloenzyme activity  positive regulation of metalloenzyme activity  neuron projection morphogenesis  dendrite morphogenesis  cartilage development  positive regulation of oxidoreductase activity  elastin biosynthetic process  transmembrane transport  copper ion export  
Pathways : KEGGMineral absorption   
Protein Interaction DatabaseATP7A
Wikipedia pathwaysATP7A
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ATP7A
snp3D : Map Gene to Disease538
SNP (GeneSNP Utah)ATP7A
SNP : HGBaseATP7A
Genetic variants : HAPMAPATP7A
Exome VariantATP7A
1000_GenomesATP7A 
ICGC programENSG00000165240 
Somatic Mutations in Cancer : COSMICATP7A 
CONAN: Copy Number AnalysisATP7A 
Mutations and Diseases : HGMDATP7A
Genomic VariantsATP7A  ATP7A [DGVbeta]
dbVarATP7A
ClinVarATP7A
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300011    300489    304150    309400   
MedgenATP7A
GENETestsATP7A
Disease Genetic AssociationATP7A
Huge Navigator ATP7A [HugePedia]  ATP7A [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneATP7A
Homology/Alignments : Family Browser (UCSC)ATP7A
Phylogenetic Trees/Animal Genes : TreeFamATP7A
Chemical/Protein Interactions : CTD538
Chemical/Pharm GKB GenePA72
Clinical trialATP7A
Cancer Resource (Charite)ENSG00000165240
Other databases
Probes
Litterature
PubMed129 Pubmed reference(s) in Entrez
CoreMineATP7A
iHOPATP7A
OncoSearchATP7A
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 14:24:50 CEST 2014

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