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

Gene ID: 538, updated on 15-Sep-2018

Summary

Official Symbol
ATP7Aprovided by HGNC
Official Full Name
ATPase copper transporting alphaprovided by HGNC
Primary source
HGNC:HGNC:869
See related
Ensembl:ENSG00000165240 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]
Expression
Ubiquitous expression in skin (RPKM 5.4), thyroid (RPKM 2.9) and 25 other tissues See more
Orthologs

Genomic context

See ATP7A in Genome Data Viewer
Location:
Xq21.1
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 RNA, 7SL, cytoplasmic 460, pseudogene 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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
    Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
  • 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...
  • Copper homeostasis, organism-specific biosystem (from WikiPathways)
    Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...
  • 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...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • 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 influx/efflux at host-pathogen interface, organism-specific biosystem (from REACTOME)
    Ion influx/efflux at host-pathogen interface, organism-specific biosystemEssential metal ions act as co-factors that enable enzymes to catalyse a wider range of chemical transformations than would be achievable using solely organic catalysts. The precise metal requirement...
  • 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 ...
  • Platinum drug resistance, organism-specific biosystem (from KEGG)
    Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
  • Platinum drug resistance, conserved biosystem (from KEGG)
    Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17790, FLJ39348

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding TAS
Traceable Author Statement
more info
PubMed 
Rac GTPase binding IEA
Inferred from Electronic Annotation
more info
 
chaperone binding IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
copper-exporting ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
copper-transporting ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cuprous ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
ATP hydrolysis coupled cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular copper ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to amino acid stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
cellular response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to cobalt ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to copper ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cellular response to iron ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to lead ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to platelet-derived growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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
 
lactation IEA
Inferred from Electronic Annotation
more info
 
liver development 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
 
negative regulation of iron ion transmembrane transport IEA
Inferred from Electronic Annotation
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 cell size IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of lamellipodium assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of response to wounding IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vascular associated smooth muscle cell migration IEA
Inferred from Electronic Annotation
more info
 
pyramidal neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cytochrome-c oxidase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
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 manganese 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 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
cell leading edge IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
microvillus IEA
Inferred from Electronic Annotation
more info
 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network transport vesicle IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    ENSP00000345728.6, OTTHUMP00000023593, ENST00000341514.10, 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
    ENSP00000343026.5, ENST00000343533.9
    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:711955
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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