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Atp7a
Gene Detail
Symbol

Name
ID
Atp7a
ATPase, Cu++ transporting, alpha polypeptide
MGI:99400
Synonyms
br, Menkes protein, MNK
Feature Type
protein coding gene
Genetic Map
Chromosome X
47.36 cM
Detailed Genetic Map ± 1 cM


Mapping data(45)
Sequence Map
ChrX:106027276-106124926 bp, + strand
From VEGA annotation of GRCm38

  97651 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:35  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: copper-transporting ATPase
Gene Tree: Atp7a

Human
homologs
Human Homolog ATP7A, ATPase, Cu++ transporting, alpha polypeptide
NCBI Gene ID 538
neXtProt AC  NX_Q04656
Human Synonyms  DSMAX, MK, MNK, SMAX3
Human Chr (Location)  Xq21.1; chrX:77910656-78050395 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human ATP7A
Mutations,
alleles, and
phenotypes
All mutations/alleles(109) : Chemically and radiation induced(2) Chemically induced (ENU)(4) Chemically induced (other)(3) Gene trapped(63) Radiation induced(6) Spontaneous(24) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this gene affect copper metabolism and, depending on the allele, result in abnormal pigmentation, vibrissae, hair, and skeleton. Behavior may be abnormal and defects of collagen and elastin fibers are reported. Some alleles are hemizygous lethal.
 
Human Diseases Modeled Using Mouse Atp7a (1)    Alleles Annotated to Human Diseases(4)    Phenotype Images(12)
Interactions
Atp7a interacts with 170 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (133 annotations)
Process ATP catabolic process, ATP metabolic process, ...
Component basolateral plasma membrane, brush border membrane, ...
Function ATP binding, cation-transporting ATPase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (80)    Tissues (18)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 4
Northern blot 76
cDNA source data(87)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(119) Genomic(6) cDNA(94) Primer pair(3) Other(16)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000018274 (Evidence)
Ensembl Gene ModelENSMUSG00000033792 (Evidence)
Entrez Gene11977 (Evidence)
UniGene254297
DFCITC1583733, TC1603998, TC1620218, TC1620316, TC1620611, TC1627783
DoTSDT.101715018, DT.40157141, DT.485091, DT.486214, DT.94300305
EC3.6.3.54
Consensus CDS ProjectCCDS41097.1, CCDS53169.1
International Mouse Knockout Project StatusAtp7a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018274 VEGA Gene Model | MGI Sequence Detail 97651 C57BL/6J ±  kb
transcript OTTMUST00000044157 VEGA | MGI Sequence Detail 4866 Not Applicable 
polypeptide OTTMUSP00000019849 VEGA | MGI Sequence Detail 1492 Not Applicable 

For the selected sequences
All sequences(54) RefSeq(4) UniProt(9)
Polymorphisms
All PCR and RFLP(5) : PCR(1) RFLP(4) SNPs within 2kb(322 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:000004493 copper-transporting ATPase 1
References
(Earliest) J:24766 Sarvella PA, Spontaneous and radiation induced mutations. Mouse News Lett. 1951;5:50
(Latest) J:208942 Sudhahar V, et al., Copper transporter ATP7A protects against endothelial dysfunction in type 1 diabetic mice by regulating extracellular superoxide dismutase. Diabetes. 2013 Nov;62(11):3839-50
All references(253)
Disease annotation references (5)
Other
accession IDs
MGD-MRK-12339, MGD-MRK-1578, MGD-MRK-16161

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory