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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
Location & Maps
more
  • Sequence Map
    ChrX:106027276-106124926 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      97651 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 47.36 cM
  • Mapping Data
    45 experiments
Homology
more
  • Human Ortholog
    ATP7A, ATPase copper transporting alpha
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ATP7A, ATPase copper transporting alpha
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DSMAX, MK, MNK, SMAX3
  • Links
    NCBI Gene ID: 538
    neXtProt AC: NX_Q04656

  • Chr Location
    Xq21.1; chrX:77910656-78050395 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Atp7a mouse models; 3 with human ATP7A associations

Human Disease Mouse Models
       Menkes Disease   OMIM: 309400 View 6 models
       Occipital Horn Syndrome; OHS   OMIM: 304150
Spinal Muscular Atrophy, Distal, X-Linked 3; SMAX3   OMIM: 300489
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    8 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
    162 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and 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
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    315 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 119
    Genomic 6
    cDNA 94
    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 251
    Developmental Gene Expression 12
    Diseases 8
    Gene Ontology 69
    Phenotypes 162
  • Earliest
    J:24766 Sarvella PA, Spontaneous and radiation induced mutations. Mouse News Lett. 1951;5:50
  • Latest
    J:228809 Hodgkinson VL, et al., Autonomous requirements of the Menkes disease protein in the nervous system. Am J Physiol Cell Physiol. 2015 Nov 15;309(10):C660-8

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
09/13/2016
MGI 6.05
The Jackson Laboratory