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

Identity

Other namesPWD
WC1
WD
WND
HGNC (Hugo) ATP7B
LocusID (NCBI) 540
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 (Hinxton)ENSG00000123191 [Gene_View]  chr13:52506806-52585630 [Contig_View]  ATP7B [Vega]
AceView (NCBI)ATP7B
Genatlas (Paris)ATP7B
WikiGenes540
SOURCE (Princeton)NM_000053 NM_001005918 NM_001243182
Genomic and cartography
GoldenPath (UCSC)ATP7B  -  13q14.3   chr13:52506806-52585630 -  13q14.3   [Description]    (hg19-Feb_2009)
EnsemblATP7B - 13q14.3 [CytoView]
Mapping of homologs : NCBIATP7B [Mapview]
OMIM277900   606882   
Gene and transcription
Genbank (Entrez)AA047378 AB209461 AK302074 AK302490 BC117200
RefSeq transcript (Entrez)NM_000053 NM_001005918 NM_001243182
RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NG_008806 NT_024524 NW_001838074 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 ]
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    Cation_transp_P-typ_ATPase_IB    Cation_transp_P_typ_ATPase    HAD-like_dom    Heavy-metal-associated_CS    HeavyMe-assoc_HMA    HMA_Cu_ion-bd   
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
InParanoidP35670
Interologous Interaction database P35670
IntegromeDBATP7B
STRING (EMBL)ATP7B
Ontologies - Pathways
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 to plasma membrane  copper ion transport  cellular copper ion homeostasis  cellular zinc ion homeostasis  lactation  copper ion import  intracellular copper ion transport  cytoplasmic membrane-bounded vesicle  basolateral plasma membrane  ion transmembrane transport  response to copper ion  perinuclear region of cytoplasm  sequestering of calcium ion  transmembrane transport  
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 to plasma membrane  copper ion transport  cellular copper ion homeostasis  cellular zinc ion homeostasis  lactation  copper ion import  intracellular copper ion transport  cytoplasmic membrane-bounded vesicle  basolateral plasma membrane  ion transmembrane transport  response to copper ion  perinuclear region of cytoplasm  sequestering of calcium ion  transmembrane transport  
REACTOMEATP7B
Protein Interaction DatabaseATP7B
Wikipedia pathwaysATP7B
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ATP7B
SNP (GeneSNP Utah)ATP7B
SNP : HGBaseATP7B
Genetic variants : HAPMAPATP7B
1000_GenomesATP7B 
ICGC programENSG00000123191 
Somatic Mutations in Cancer : COSMICATP7B 
CONAN: Copy Number AnalysisATP7B 
Mutations and Diseases : HGMDATP7B
OMIM277900    606882   
GENETestsATP7B
Disease Genetic AssociationATP7B
Huge Navigator ATP7B [HugePedia]  ATP7B [HugeCancerGEM]
Genomic VariantsATP7B  ATP7B [DGVbeta]
Exome VariantATP7B
dbVarATP7B
ClinVarATP7B
snp3D : Map Gene to Disease540
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
PubMed228 Pubmed reference(s) in Entrez
CoreMineATP7B
iHOPATP7B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 16:48:49 CEST 2014

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