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Atp7a Gene Detail
Summary
  • Symbol
    Atp7a
  • Name
    ATPase, Cu++ transporting, alpha polypeptide
  • Synonyms
    br, Menkes protein, MNK
  • Feature Type
    protein coding gene
  • IDs
    MGI:99400
    NCBI Gene: 11977
  • Gene Overview
    MyGene.info: ATP7A
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:106027276-106124926 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 47.36 cM
  • Mapping Data
    45 experiments
Strain
Comparison
more
  • SNPs within 2kb
    315 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99400
protein coding gene ChrX:106027224-106128160 (.)
129S1/SvImJ MGP_129S1SvImJ_G0036002
protein coding gene ChrX:102813683-102913450 (+)
A/J MGP_AJ_G0035981
protein coding gene ChrX:102579794-102681535 (+)
AKR/J MGP_AKRJ_G0035900
protein coding gene ChrX:105870047-105970420 (+)
BALB/cJ MGP_BALBcJ_G0035971
protein coding gene ChrX:101422064-101521060 (+)
C3H/HeJ MGP_C3HHeJ_G0035678
protein coding gene ChrX:103247540-103344980 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036498
protein coding gene ChrX:105744062-105847103 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033326
protein coding gene ChrX:100052423-100151967 (+)
CAST/EiJ MGP_CASTEiJ_G0034965
protein coding gene ChrX:87394846-87495504 (+)
CBA/J MGP_CBAJ_G0035653
protein coding gene ChrX:109066089-109171548 (+)
DBA/2J MGP_DBA2J_G0035807
protein coding gene ChrX:101871686-101969787 (+)
FVB/NJ MGP_FVBNJ_G0035748
protein coding gene ChrX:101185181-101288503 (+)
LP/J MGP_LPJ_G0035900
protein coding gene ChrX:103765090-103877813 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035780
protein coding gene ChrX:113750864-113858114 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036524
protein coding gene ChrX:102445824-102545241 (+)
PWK/PhJ MGP_PWKPhJ_G0034661
protein coding gene ChrX:84923338-85023798 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034490
protein coding gene ChrX:88128760-88231353 (+)
WSB/EiJ MGP_WSBEiJ_G0035103
protein coding gene ChrX:101148243-101250096 (+)



Homology
more
  • Human Ortholog
    ATP7A, ATPase copper transporting alpha
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ATP7A, ATPase copper transporting alpha
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DSMAX, MK, MNK, SMAX3
  • Links
    NCBI Gene ID: 538
    neXtProt AC: NX_Q04656
    UniProt: Q04656

  • Chr Location
    Xq21.1; chrX:77910656-78050395 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Atp7a mouse models; 1 with human ATP7A associations

Human Disease Mouse Models
      
IDs
View 6 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    132 phenotypes from 40 alleles in 26 genetic backgrounds
    7 phenotypes from multigenic genotypes
    13 images
    165 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033792 Ensembl Gene Model | MGI Sequence Detail 97651 C57BL/6J ±  kb
    transcript ENSMUST00000055941 Ensembl | MGI Sequence Detail 4866 Not Applicable  
    polypeptide ENSMUSP00000058840 Ensembl | MGI Sequence Detail 1492 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • EC
    • InterPro Domains
      IPR036412 HAD-like superfamily
      IPR017969 Heavy-metal-associated, conserved site
      IPR006122 Heavy metal-associated domain, copper ion-binding
      IPR006121 Heavy metal-associated domain, HMA
      IPR036163 Heavy metal-associated domain superfamily
      IPR001757 P-type ATPase
      IPR008250 P-type ATPase, A domain superfamily
      IPR023299 P-type ATPase, cytoplasmic domain N
      IPR018303 P-type ATPase, phosphorylation site
      IPR027256 P-type ATPase, subfamily IB
      IPR023298 P-type ATPase, transmembrane domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 120
      Genomic 6
      cDNA 95
      Primer pair 3
      Other 16

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12339, MGD-MRK-1578, MGD-MRK-16161
    References
    more
    • Summaries
      All 259
      Developmental Gene Expression 13
      Diseases 5
      Gene Ontology 70
      Phenotypes 165
    • Earliest
      J:249 FALCONER DS, [Total sex-linkage in the house mouse.]. Z Indukt Abstamm Vererbungsl. 1953;85(2):210-9
    • Latest
      J:256261 Lenartowicz M, et al., Copper therapy reduces intravascular hemolysis and derepresses ferroportin in mice with mosaic mutation (Atp7a(mo-ms)): An implication for copper-mediated regulation of the Slc40a1 gene expression. Biochim Biophys Acta. 2017 Jun;1863(6):1410-1421

    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
    12/11/2018
    MGI 6.13
    The Jackson Laboratory