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Atp7a Gene Detail
 Symbol
Name
ID
Atp7a
ATPase, Cu++ transporting, alpha polypeptide
MGI:99400


Nomenclature History
Synonyms br, Menkes protein, MNK
Genetic Map
Chromosome X
44.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 47)

Sequence Map
ChrX:103222615-103320265 bp, + strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Atp7a ± 2 cM)
Protein SuperFamily: copper-transporting ATPase
TreeFam: TF300460
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000018274 VEGA Gene Model | MGI Sequence Detail 97651 C57BL/6J ± Kb
transcript NM_001109757 RefSeq | MGI Sequence Detail 8146 -
polypeptide Q64430 UniProt | EBI | MGI Sequence Detail 1491 Not Applicable
For the selected sequences
All sequences(37)
Alleles
and
phenotypes
All alleles(84) : Gene trapped(46) Spontaneous(23) Chemically induced(9) Radiation induced(8)
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.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (3)   Phenotype Images (7)  
Polymorphisms All PCR and RFLP(5) : PCR(1) RFLP(4) SNPs within 2kb(301 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(116)
Process ATP biosynthetic process, ATP metabolic process...
Component cell soma, cytoplasmic vesicle...
Function ATP binding, ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism...
This is a GO Consortium Reference Genome Project gene.
External Resources: MouseFunc
Expression Literature Summary: (7 records)
Data Summary: Assays (8)    Results (76)    Tissues (15)
Theiler Stages: 23,25,26,28
  Assay Type Assays   Results
      Northern blot 8   76
cDNA source data(88)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(119) Genomic(6) cDNA(95) Primer pair(2) Other(16)
Microarray probesets(2)
Other database
links
EC 3.6.3.4
Ensembl Gene Model ENSMUSG00000033792
DoTS DT.101715018, DT.40157141, DT.485091, DT.486214, DT.94300305
UniGene 254297
DFCI TC1583733, TC1603998, TC1620218, TC1620316, TC1620611, TC1627783
Entrez Gene 11977
VEGA Gene Model OTTMUSG00000018274
International Mouse Knockout Project Status Atp7a
Protein
domains
InterPro ID Description
IPR001757 ATPase, P-type, K/Mg/Cd/Cu/Zn/Na/Ca/Na/H-transporter
IPR001877 ATPase 1, copper-transporting
IPR005834 Haloacid dehalogenase-like hydrolase
IPR006121 Heavy metal transport/detoxification protein
IPR006122 Copper ion-binding
IPR006403 ATPase, P type, cation/copper-transporter
IPR006416 ATPase, P-type, heavy metal translocating
IPR008250 ATPase, P-type, ATPase-associated domain
IPR017969 Heavy-metal-associated, conserved site
IPR018303 ATPase, P-type phosphorylation site
Graphical View of Protein Domain Structure
References
(Earliest) J:24766 Sarvella PA, "Spontaneous and radiation induced mutations" Mouse News Lett 1951;5():50
(Latest) J:153556 Colasante G et al., "Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity." Dev Biol 2009 Oct 1;334(1):59-71
All references(197)
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
Citing These Resources
Funding Information
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last database update
11/20/2009
MGI_4.31
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