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ATP7B (ATPase, Cu++ transporting, beta polypeptide)

Identity

Other namesPWD
WC1
WD
WND
HGNC (Hugo) ATP7B
LocusID (NCBI) 540
Atlas_Id 45871
Location 13q14.3
Location_base_pair Starts at 52506806 and ends at 52585630 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)ATP7B   870
Cards
Entrez_Gene (NCBI)ATP7B  540  ATPase, Cu++ transporting, beta polypeptide
GeneCards (Weizmann)ATP7B
Ensembl hg19 (Hinxton)ENSG00000123191 [Gene_View]  chr13:52506806-52585630 [Contig_View]  ATP7B [Vega]
Ensembl hg38 (Hinxton)ENSG00000123191 [Gene_View]  chr13:52506806-52585630 [Contig_View]  ATP7B [Vega]
ICGC DataPortalENSG00000123191
TCGA cBioPortalATP7B
AceView (NCBI)ATP7B
Genatlas (Paris)ATP7B
WikiGenes540
SOURCE (Princeton)ATP7B
Genomic and cartography
GoldenPath hg19 (UCSC)ATP7B  -     chr13:52506806-52585630 -  13q14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP7B  -     13q14.3   [Description]    (hg38-Dec_2013)
EnsemblATP7B - 13q14.3 [CytoView hg19]  ATP7B - 13q14.3 [CytoView hg38]
Mapping of homologs : NCBIATP7B [Mapview hg19]  ATP7B [Mapview hg38]
OMIM277900   606882   
Gene and transcription
Genbank (Entrez)AA047378 AB209461 AK302074 AK302490 BC117200
RefSeq transcript (Entrez)NM_000053 NM_001005918 NM_001243182
RefSeq genomic (Entrez)NC_000013 NC_018924 NG_008806 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)ATP7B
Cluster EST : UnigeneHs.492280 [ NCBI ]
CGAP (NCI)Hs.492280
Alternative Splicing : Fast-db (Paris)GSHG0008504
Alternative Splicing GalleryENSG00000123191
Gene ExpressionATP7B [ NCBI-GEO ]     ATP7B [ SEEK ]   ATP7B [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35670 (Uniprot)
NextProtP35670  [Medical]
With graphics : InterProP35670
Splice isoforms : SwissVarP35670 (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    ATPase_P-typ_P_site    ATPase_P-typ_transduc_dom_A    HAD-like_dom    Heavy-metal-associated_CS    HeavyMe-assoc_HMA    HMA_Cu_ion-bd    P-typ_ATPase_IB    P_typ_ATPase   
Related proteins : CluSTrP35670
Domain families : Pfam (Sanger)E1-E2_ATPase (PF00122)    HMA (PF00403)    Hydrolase (PF00702)   
Domain families : Pfam (NCBI)pfam00122    pfam00403    pfam00702   
DMDM Disease mutations540
Blocks (Seattle)P35670
PDB (SRS)2ARF    2EW9    2KOY    2LQB    2ROP   
PDB (PDBSum)2ARF    2EW9    2KOY    2LQB    2ROP   
PDB (IMB)2ARF    2EW9    2KOY    2LQB    2ROP   
PDB (RSDB)2ARF    2EW9    2KOY    2LQB    2ROP   
Human Protein AtlasENSG00000123191
Peptide AtlasP35670
HPRD06050
IPIIPI00020058   IPI00216296   IPI00515019   IPI00658175   IPI00930349   IPI00910758   IPI00910679   IPI00922733   IPI00873072   IPI00940825   IPI00930109   IPI00930059   IPI00930201   IPI00930522   IPI00930480   IPI00930646   
Protein Interaction databases
DIP (DOE-UCLA)P35670
IntAct (EBI)P35670
FunCoupENSG00000123191
BioGRIDATP7B
IntegromeDBATP7B
STRING (EMBL)ATP7B
Ontologies - Pathways
QuickGOP35670
Ontology : AmiGOGolgi membrane  copper-exporting ATPase activity  copper-exporting ATPase activity  copper ion binding  protein binding  ATP binding  mitochondrion  late endosome  trans-Golgi network  integral component of plasma membrane  copper ion transport  cellular copper ion homeostasis  cellular zinc ion homeostasis  lactation  metabolic process  copper ion import  intracellular copper ion transport  membrane  cytoplasmic membrane-bounded vesicle  basolateral plasma membrane  ion transmembrane transport  response to copper ion  perinuclear region of cytoplasm  sequestering of calcium ion  transmembrane transport  copper ion export  
Ontology : EGO-EBIGolgi membrane  copper-exporting ATPase activity  copper-exporting ATPase activity  copper ion binding  protein binding  ATP binding  mitochondrion  late endosome  trans-Golgi network  integral component of plasma membrane  copper ion transport  cellular copper ion homeostasis  cellular zinc ion homeostasis  lactation  metabolic process  copper ion import  intracellular copper ion transport  membrane  cytoplasmic membrane-bounded vesicle  basolateral plasma membrane  ion transmembrane transport  response to copper ion  perinuclear region of cytoplasm  sequestering of calcium ion  transmembrane transport  copper ion export  
Protein Interaction DatabaseATP7B
DoCM (Curated mutations)ATP7B
Wikipedia pathwaysATP7B
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerATP7B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP7B
dbVarATP7B
ClinVarATP7B
1000_GenomesATP7B 
Exome Variant ServerATP7B
SNP (GeneSNP Utah)ATP7B
SNP : HGBaseATP7B
Genetic variants : HAPMAPATP7B
Genomic Variants (DGV)ATP7B [DGVbeta]
Mutations
ICGC Data PortalATP7B 
TCGA Data PortalATP7B 
Tumor PortalATP7B
Somatic Mutations in Cancer : COSMICATP7B 
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)13:52506806-52585630
CONAN: Copy Number AnalysisATP7B 
Mutations and Diseases : HGMDATP7B
OMIM277900    606882   
MedgenATP7B
NextProtP35670 [Medical]
GENETestsATP7B
Disease Genetic AssociationATP7B
Huge Navigator ATP7B [HugePedia]  ATP7B [HugeCancerGEM]
snp3D : Map Gene to Disease540
DGIdb (Drug Gene Interaction db)ATP7B
General knowledge
Homologs : HomoloGeneATP7B
Homology/Alignments : Family Browser (UCSC)ATP7B
Phylogenetic Trees/Animal Genes : TreeFamATP7B
Chemical/Protein Interactions : CTD540
Chemical/Pharm GKB GenePA73
Clinical trialATP7B
Cancer Resource (Charite)ENSG00000123191
Other databases
Probes
Litterature
PubMed244 Pubmed reference(s) in Entrez
CoreMineATP7B
GoPubMedATP7B
iHOPATP7B
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 18:51:10 CEST 2015

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