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 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; chr13:52506805-52585630 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ATP7B

Alleles and phenotypes

All alleles(4) : Targeted(2) Spontaneous(2)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (49 annotations)

Process	ATP catabolic process, cation transport, ...
Component	basolateral plasma membrane, cytoplasmic membrane-bounded vesicle, ...
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 Type	Results
RNA in situ	227

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000020833 (Evidence)
Ensembl Gene Model	ENSMUSG00000006567 (Evidence)
Entrez Gene	11979 (Evidence)
UniGene	460838
DFCI	TC1586865, TC1625076
DoTS	DT.103577325, DT.91343814
NIA Mouse Gene Index	U029630
EC	3.6.3.4
Consensus CDS Project	CCDS22168.1
International Mouse Knockout Project Status	Atp7b

Sequences

Length	Strain/Species
genomic	OTTMUSG00000020833	VEGA Gene Model | MGI Sequence Detail	67521	C57BL/6J
transcript	OTTMUST00000049251	VEGA | MGI Sequence Detail	6505	Not Applicable
polypeptide	OTTMUSP00000022787	VEGA | MGI Sequence Detail	1462	Not Applicable

All sequences(24) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(4 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-15308, MGD-MRK-24180