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Atp7b
Gene Detail
 Symbol
Name
ID
Atp7b
ATPase, Cu++ transporting, beta polypeptide
MGI:103297
Synonyms Atp7a, Wilson protein, WND
Feature Type protein coding gene
Genetic Map
Chromosome 8
10.78 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr8:21992785-22060305 bp, - strand
From VEGA annotation of GRCm38

  67521 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20063  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: copper-transporting ATPase
Gene Tree: Atp7b

Human
homologs
Human Homolog ATP7B, ATPase, Cu++ transporting, beta polypeptide
NCBI Gene ID 540
neXtProt AC  NX_P35670
Human Synonyms  PWD, WC1, WD, WND
Human Chr (Location)  13q14.3; chr13:51905617-52012109 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ATP7B
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Spontaneous(2) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice.
 
Human Diseases Modeled Using Mouse Atp7b (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Atp7b interacts with 285 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (50 annotations)
Process ATP catabolic process, cation transport, ...
Component basolateral plasma membrane, cell, ...
Function ATP binding, cation-transporting ATPase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (227)    Tissues (104)    Images (61)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 227
cDNA source data(8)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000020833 (Evidence)
Ensembl Gene ModelENSMUSG00000006567 (Evidence)
Entrez Gene11979 (Evidence)
UniGene460838
DFCITC1586865, TC1625076
DoTSDT.103577325, DT.91343814
NIA Mouse Gene IndexU029630
EC3.6.3.54
Consensus CDS ProjectCCDS22168.1
International Mouse Knockout Project StatusAtp7b
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020833 VEGA Gene Model | MGI Sequence Detail 67521 C57BL/6J ±  kb
transcript OTTMUST00000049251 VEGA | MGI Sequence Detail 6505 Not Applicable 
polypeptide OTTMUSP00000022787 VEGA | MGI Sequence Detail 1462 Not Applicable 

For the selected sequences
All sequences(29) RefSeq(7) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(25 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001757 Cation-transporting P-type ATPase
InterPro IPR027256 Cation-transporting P-type ATPase, subfamily IB
InterPro IPR023214 HAD-like domain
InterPro IPR017969 Heavy-metal-associated, conserved site
InterPro IPR006122 Heavy metal-associated domain, copper ion-binding
InterPro IPR006121 Heavy metal-associated domain, HMA
InterPro IPR008250 P-type ATPase, A domain
InterPro IPR023299 P-type ATPase, cytoplasmic domain N
InterPro IPR018303 P-type ATPase, phosphorylation site
Protein Ontology PR:000004494 copper-transporting ATPase 2
References (Earliest) J:64103 Rauch H, tx - toxic milk. Mouse News Lett. 1977;56:48
(Latest) J:187894 Gray LW, et al., Urinary copper elevation in a mouse model of Wilson's disease is a regulated process to specifically decrease the hepatic copper load. PLoS One. 2012;7(6):e38327
All references(69)
Disease annotation references (5)
Other
accession IDs
MGD-MRK-15308, MGD-MRK-24180

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory