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Atp7a Gene Detail
Summary
  • Symbol
    Atp7a
  • Name
    ATPase, copper transporting, alpha polypeptide
  • Synonyms
    br, Menkes protein, MNK
  • Feature Type
    protein coding gene
  • IDs
    MGI:99400
    NCBI Gene: 11977
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:105070882-105168532 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 47.36 cM
  • Mapping Data
    45 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2144 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99400
 protein coding gene ChrX:105070830-105171766 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP7A, ATPase copper transporting alpha
  • Synonyms
    DSMAX, HMNX, MK, MNK, SMAX3
  • Links
    NCBI Gene ID: 538
    neXtProt AC: NX_Q04656
    UniProt: Q04656

  • Chr Location
    Xq21.1; chrX:77910690-78050395 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with Atp7a mouse models; 4 with human ATP7A associations

Human Disease Mouse Models
      
IDs
 View 10 models
IDs
 View 2 models
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    10 with disease annotations
  • References
    15 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    156 phenotypes from 42 alleles in 30 genetic backgrounds
    7 phenotypes from multigenic genotypes
    13 images
    181 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.
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
less
  • All GO Annotations
    179
  • GO References
    72
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    822
  • Tissues
    21
  • cDNA Data
    88
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Molecular
    Reagents
    less
    • All nucleic 121
      Genomic 6
      cDNA 95
      Primer pair 4
      Other 16

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12339, MGD-MRK-1578, MGD-MRK-16161
    References
    more
    • Summaries
      All 280
      Developmental Gene Expression 14
      Diseases 15
      Gene Ontology 72
      Phenotypes 181
    • Earliest
      J:249 FALCONER DS, [Total sex-linkage in the house mouse.]. Z Indukt Abstamm Vererbungsl. 1953;85(2):210-9
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory