Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ATP7A (ATPase copper transporting alpha)

Identity

Alias_namesMNK
Menkes syndrome
ATPase, Cu? transporting, alpha polypeptide
Other aliasDSMAX
MK
SMAX3
HGNC (Hugo) ATP7A
LocusID (NCBI) 538
Atlas_Id 49743
Location Xq21.1  [Link to chromosome band Xq21]
Location_base_pair Starts at 77910656 and ends at 78050395 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)
ATP7A (Xq21.1) / ATP7A (Xq21.1)ATP7A (Xq21.1) / PGAM1 (10q24.1)BNC2 (9p22.3) / ATP7A (Xq21.1)

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)ATP7A   869
Cards
Entrez_Gene (NCBI)ATP7A  538  ATPase copper transporting alpha
AliasesDSMAX; MK; MNK; SMAX3
GeneCards (Weizmann)ATP7A
Ensembl hg19 (Hinxton)ENSG00000165240 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165240 [Gene_View]  chrX:77910656-78050395 [Contig_View]  ATP7A [Vega]
ICGC DataPortalENSG00000165240
TCGA cBioPortalATP7A
AceView (NCBI)ATP7A
Genatlas (Paris)ATP7A
WikiGenes538
SOURCE (Princeton)ATP7A
Genetics Home Reference (NIH)ATP7A
Genomic and cartography
GoldenPath hg38 (UCSC)ATP7A  -     chrX:77910656-78050395 +  Xq21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP7A  -     Xq21.1   [Description]    (hg19-Feb_2009)
EnsemblATP7A - Xq21.1 [CytoView hg19]  ATP7A - Xq21.1 [CytoView hg38]
Mapping of homologs : NCBIATP7A [Mapview hg19]  ATP7A [Mapview hg38]
OMIM300011   300489   304150   309400   
Gene and transcription
Genbank (Entrez)AB117973 AB208828 AK096667 AK299449 BC156437
RefSeq transcript (Entrez)NM_000052 NM_001282224
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP7A
Cluster EST : UnigeneHs.733232 [ NCBI ]
CGAP (NCI)Hs.733232
Alternative Splicing GalleryENSG00000165240
Gene ExpressionATP7A [ NCBI-GEO ]   ATP7A [ EBI - ARRAY_EXPRESS ]   ATP7A [ SEEK ]   ATP7A [ MEM ]
Gene Expression Viewer (FireBrowse)ATP7A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)538
GTEX Portal (Tissue expression)ATP7A
Human Protein AtlasENSG00000165240-ATP7A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ04656   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ04656  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ04656
Splice isoforms : SwissVarQ04656
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 ]   
PhosPhoSitePlusQ04656
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)    HMA_1 (PS01047)    HMA_2 (PS50846)   
Domains : Interpro (EBI)ATPase_P-typ_cyto_domN    ATPase_P-typ_P_site    ATPase_P-typ_transduc_dom_A    HAD-like_dom    Heavy-metal-associated_CS    HMA_Cu_ion-bd    HMA_dom    P-typ_ATPase_IB    P_typ_ATPase   
Domain families : Pfam (Sanger)E1-E2_ATPase (PF00122)    HMA (PF00403)   
Domain families : Pfam (NCBI)pfam00122    pfam00403   
Conserved Domain (NCBI)ATP7A
DMDM Disease mutations538
Blocks (Seattle)ATP7A
PDB (SRS)1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK    5T7L   
PDB (PDBSum)1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK    5T7L   
PDB (IMB)1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK    5T7L   
PDB (RSDB)1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK    5T7L   
Structural Biology KnowledgeBase1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK    5T7L   
SCOP (Structural Classification of Proteins)1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK    5T7L   
CATH (Classification of proteins structures)1AW0    1KVI    1KVJ    1Q8L    1S6O    1S6U    1Y3J    1Y3K    1YJR    1YJT    1YJU    1YJV    2AW0    2G9O    2GA7    2K1R    2KIJ    2KMV    2KMX    3CJK    5T7L   
SuperfamilyQ04656
Human Protein Atlas [tissue]ENSG00000165240-ATP7A [tissue]
Peptide AtlasQ04656
HPRD02054
IPIIPI00028610   IPI00215614   IPI00215615   IPI00215616   IPI00215617   IPI00215619   IPI01018319   IPI01012907   IPI01015918   
Protein Interaction databases
DIP (DOE-UCLA)Q04656
IntAct (EBI)Q04656
FunCoupENSG00000165240
BioGRIDATP7A
STRING (EMBL)ATP7A
ZODIACATP7A
Ontologies - Pathways
QuickGOQ04656
Ontology : AmiGOblood vessel development  in utero embryonic development  liver development  blood vessel remodeling  regulation of oxidative phosphorylation  copper-exporting ATPase activity  copper ion transmembrane transporter activity  copper ion binding  protein binding  ATP binding  nucleus  late endosome  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  cytosol  plasma membrane  plasma membrane  microvillus  tryptophan metabolic process  catecholamine metabolic process  copper ion transport  cellular copper ion homeostasis  mitochondrion organization  lactation  locomotory behavior  response to iron(III) ion  response to manganese ion  response to zinc ion  detoxification of copper ion  regulation of gene expression  positive regulation of lamellipodium assembly  copper ion import  plasma membrane copper ion transport  membrane  integral component of membrane  basolateral plasma membrane  apical plasma membrane  superoxide dismutase copper chaperone activity  peptidyl-lysine modification  removal of superoxide radicals  antimicrobial humoral response  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  phagocytic vesicle membrane  hair follicle morphogenesis  cell leading edge  brush border membrane  copper-dependent protein binding  ion transmembrane transport  negative regulation of iron ion transmembrane transport  cellular response to platelet-derived growth factor stimulus  T-helper cell differentiation  epinephrine metabolic process  norepinephrine metabolic process  dopamine metabolic process  serotonin metabolic process  neuron projection  neuronal cell body  positive regulation of catalytic activity  negative regulation of catalytic activity  perikaryon  pigmentation  skin development  membrane raft  positive regulation of cell size  elastic fiber assembly  lung alveolus development  Rac GTPase binding  perinuclear region of cytoplasm  neuron projection morphogenesis  positive regulation of epithelial cell proliferation  chaperone binding  cartilage development  positive regulation of oxidoreductase activity  elastin biosynthetic process  copper ion export  cellular response to amino acid stimulus  cellular response to antibiotic  cellular response to cadmium ion  cellular response to cobalt ion  cellular response to copper ion  cellular response to iron ion  cellular response to lead ion  cellular response to hypoxia  ATP hydrolysis coupled cation transmembrane transport  positive regulation of response to wounding  cuprous ion binding  positive regulation of vascular associated smooth muscle cell migration  regulation of cytochrome-c oxidase activity  
Ontology : EGO-EBIblood vessel development  in utero embryonic development  liver development  blood vessel remodeling  regulation of oxidative phosphorylation  copper-exporting ATPase activity  copper ion transmembrane transporter activity  copper ion binding  protein binding  ATP binding  nucleus  late endosome  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  cytosol  plasma membrane  plasma membrane  microvillus  tryptophan metabolic process  catecholamine metabolic process  copper ion transport  cellular copper ion homeostasis  mitochondrion organization  lactation  locomotory behavior  response to iron(III) ion  response to manganese ion  response to zinc ion  detoxification of copper ion  regulation of gene expression  positive regulation of lamellipodium assembly  copper ion import  plasma membrane copper ion transport  membrane  integral component of membrane  basolateral plasma membrane  apical plasma membrane  superoxide dismutase copper chaperone activity  peptidyl-lysine modification  removal of superoxide radicals  antimicrobial humoral response  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  phagocytic vesicle membrane  hair follicle morphogenesis  cell leading edge  brush border membrane  copper-dependent protein binding  ion transmembrane transport  negative regulation of iron ion transmembrane transport  cellular response to platelet-derived growth factor stimulus  T-helper cell differentiation  epinephrine metabolic process  norepinephrine metabolic process  dopamine metabolic process  serotonin metabolic process  neuron projection  neuronal cell body  positive regulation of catalytic activity  negative regulation of catalytic activity  perikaryon  pigmentation  skin development  membrane raft  positive regulation of cell size  elastic fiber assembly  lung alveolus development  Rac GTPase binding  perinuclear region of cytoplasm  neuron projection morphogenesis  positive regulation of epithelial cell proliferation  chaperone binding  cartilage development  positive regulation of oxidoreductase activity  elastin biosynthetic process  copper ion export  cellular response to amino acid stimulus  cellular response to antibiotic  cellular response to cadmium ion  cellular response to cobalt ion  cellular response to copper ion  cellular response to iron ion  cellular response to lead ion  cellular response to hypoxia  ATP hydrolysis coupled cation transmembrane transport  positive regulation of response to wounding  cuprous ion binding  positive regulation of vascular associated smooth muscle cell migration  regulation of cytochrome-c oxidase activity  
Pathways : KEGGMineral absorption   
NDEx NetworkATP7A
Atlas of Cancer Signalling NetworkATP7A
Wikipedia pathwaysATP7A
Orthology - Evolution
OrthoDB538
GeneTree (enSembl)ENSG00000165240
Phylogenetic Trees/Animal Genes : TreeFamATP7A
HOVERGENQ04656
HOGENOMQ04656
Homologs : HomoloGeneATP7A
Homology/Alignments : Family Browser (UCSC)ATP7A
Gene fusions - Rearrangements
Tumor Fusion PortalATP7A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP7A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP7A
dbVarATP7A
ClinVarATP7A
1000_GenomesATP7A 
Exome Variant ServerATP7A
ExAC (Exome Aggregation Consortium)ENSG00000165240
GNOMAD BrowserENSG00000165240
Genetic variants : HAPMAP538
Genomic Variants (DGV)ATP7A [DGVbeta]
DECIPHERATP7A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP7A 
Mutations
ICGC Data PortalATP7A 
TCGA Data PortalATP7A 
Broad Tumor PortalATP7A
OASIS PortalATP7A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP7A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP7A
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 ATP7A
DgiDB (Drug Gene Interaction Database)ATP7A
DoCM (Curated mutations)ATP7A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP7A (select a term)
intoGenATP7A
Cancer3DATP7A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300011    300489    304150    309400   
Orphanet278    16919    7035   
DisGeNETATP7A
MedgenATP7A
Genetic Testing Registry ATP7A
NextProtQ04656 [Medical]
TSGene538
GENETestsATP7A
Target ValidationATP7A
Huge Navigator ATP7A [HugePedia]
snp3D : Map Gene to Disease538
BioCentury BCIQATP7A
ClinGenATP7A (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD538
Chemical/Pharm GKB GenePA72
Clinical trialATP7A
Miscellaneous
canSAR (ICR)ATP7A (select the gene name)
Probes
Litterature
PubMed146 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP7A
EVEXATP7A
GoPubMedATP7A
iHOPATP7A
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 : Tue Nov 21 14:04:17 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.