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ATP7A ATPase copper transporting alpha [ Homo sapiens (human) ]

Gene ID: 538, updated on 26-May-2016
Official Symbol
ATP7Aprovided by HGNC
Official Full Name
ATPase copper transporting alphaprovided by HGNC
Primary source
HGNC:HGNC:869
See related
Ensembl:ENSG00000165240 HPRD:02054; MIM:300011; Vega:OTTHUMG00000021885
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MK; MNK; DSMAX; SMAX3
Summary
This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
Orthologs
Location:
Xq21.1
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (77910656..78050395)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (77166194..77305892)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene magnesium transporter 1 Neighboring gene cytochrome c oxidase subunit 7B Neighboring gene chromosome 4 open reading frame 46 pseudogene Neighboring gene phosphoglycerate mutase family member 4 Neighboring gene phosphoglycerate kinase 1 Neighboring gene TATA-box binding protein associated factor 9b

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Detoxification of Reactive Oxygen Species, organism-specific biosystem (from REACTOME)
    Detoxification of Reactive Oxygen Species, organism-specific biosystemReactive oxygen species such as superoxide (O2.-), peroxides (ROOR), singlet oxygen, peroxynitrite (ONOO-), and hydroxyl radical (OH.) are generated by cellular processes such as respiration (reviewe...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Ion transport by P-type ATPases, organism-specific biosystem (from REACTOME)
    Ion transport by P-type ATPases, organism-specific biosystemThe P-type ATPases (E1-E2 ATPases) are a large group of evolutionarily related ion pumps that are found in bacteria, archaea and eukaryotes. They are referred to as P-type ATPases because they catal...
  • Mineral absorption, organism-specific biosystem (from KEGG)
    Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
  • Mineral absorption, conserved biosystem (from KEGG)
    Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ17790, FLJ39348

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding TAS
Traceable Author Statement
more info
PubMed 
copper ion binding IDA
Inferred from Direct Assay
more info
PubMed 
copper ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
copper-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
copper-exporting ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
copper-exporting ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
superoxide dismutase copper chaperone activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
T-helper cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
cartilage development ISS
Inferred from Sequence or Structural Similarity
more info
 
catecholamine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular copper ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
central nervous system neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebellar Purkinje cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
collagen fibril organization ISS
Inferred from Sequence or Structural Similarity
more info
 
copper ion export IBA
Inferred from Biological aspect of Ancestor
more info
 
copper ion export ISS
Inferred from Sequence or Structural Similarity
more info
 
copper ion import ISS
Inferred from Sequence or Structural Similarity
more info
 
copper ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
detoxification of copper ion ISS
Inferred from Sequence or Structural Similarity
more info
 
dopamine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
elastic fiber assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
elastin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
epinephrine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization ISS
Inferred from Sequence or Structural Similarity
more info
 
hair follicle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
lactation IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
lung alveolus development ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion organization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
norepinephrine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-lysine modification ISS
Inferred from Sequence or Structural Similarity
more info
 
pigmentation ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane copper ion transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
pyramidal neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of oxidative phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
removal of superoxide radicals ISS
Inferred from Sequence or Structural Similarity
more info
 
response to iron(III) ion IEA
Inferred from Electronic Annotation
more info
 
response to zinc ion IEA
Inferred from Electronic Annotation
more info
 
serotonin metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
skin development ISS
Inferred from Sequence or Structural Similarity
more info
 
tryptophan metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
secretory granule IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network transport vesicle IMP
Inferred from Mutant Phenotype
more info
PubMed 
Preferred Names
copper-transporting ATPase 1
Names
ATPase, Cu++ transporting, alpha polypeptide
Cu++-transporting P-type ATPase
Menkes disease-associated protein
copper pump 1
NP_000043.4
NP_001269153.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013224.2 RefSeqGene

    Range
    4960..144699
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000052.6NP_000043.4  copper-transporting ATPase 1 isoform 1

    See identical proteins and their annotated locations for NP_000043.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB117973, AK299449, AL356235, AL645821, BU753163, DB164588, L06476
    Consensus CDS
    CCDS35339.1
    UniProtKB/Swiss-Prot
    Q04656
    UniProtKB/TrEMBL
    B4DRW0, Q762B6
    Related
    ENSP00000345728, OTTHUMP00000023593, ENST00000341514, OTTHUMT00000057306
    Conserved Domains (4) summary
    COG2217
    Location:5661389
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:380443
    HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
    pfam00122
    Location:7861033
    E1-E2_ATPase; E1-E2 ATPase
    cl21460
    Location:11981341
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. NM_001282224.1NP_001269153.1  copper-transporting ATPase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. This variant is supported by data in PMIDs 7490081 and 10970802.
    Source sequence(s)
    AB117973, AK299449, AL356235, AL645821, BU753163, DB164588, L06476
    Consensus CDS
    CCDS75997.1
    UniProtKB/Swiss-Prot
    Q04656
    UniProtKB/TrEMBL
    B4DRW0, Q762B6
    Related
    ENSP00000343026, ENST00000343533
    Conserved Domains (4) summary
    COG2217
    Location:5661311
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:380443
    HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
    pfam00122
    Location:709955
    E1-E2_ATPase; E1-E2 ATPase
    cl21460
    Location:11201263
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RNA

  1. NR_104109.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple consecutive internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1. This variant is supported by data in PMID 9693104.
    Source sequence(s)
    AB117973, AK299449, AL356235, AL645821, BU753163, DB164588

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    77910656..78050395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    77058841..77198586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)