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Aliases for ATP7A Gene

Aliases for ATP7A Gene

  • ATPase Copper Transporting Alpha 2 3
  • ATPase, Cu++ Transporting, Alpha Polypeptide 2 3 5
  • Copper Pump 1 2 3 4
  • Menkes Disease-Associated Protein 3 4
  • MNK 3 4
  • Cu++-Transporting P-Type ATPase 3
  • Copper-Transporting ATPase 1 2
  • Menkes Syndrome 2
  • EC 3.6.3.54 4
  • EC 3.6.3.4 63
  • EC 3.6.3 63
  • DSMAX 3
  • SMAX3 3
  • MC1 4
  • MK 3

External Ids for ATP7A Gene

Previous HGNC Symbols for ATP7A Gene

  • MNK

Previous GeneCards Identifiers for ATP7A Gene

  • GC0XP072711
  • GC0XP074127
  • GC0XP075207
  • GC0XP075922
  • GC0XP076972
  • GC0XP077053
  • GC0XP077166
  • GC0XP070753

Summaries for ATP7A Gene

Entrez Gene Summary for ATP7A Gene

  • 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]

GeneCards Summary for ATP7A Gene

ATP7A (ATPase Copper Transporting Alpha) is a Protein Coding gene. Diseases associated with ATP7A include occipital horn syndrome and spinal muscular atrophy, distal, x-linked 3. Among its related pathways are Mineral absorption and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP7B.

UniProtKB/Swiss-Prot for ATP7A Gene

  • May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.

Gene Wiki entry for ATP7A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP7A Gene

Genomics for ATP7A Gene

Regulatory Elements for ATP7A Gene

Enhancers for ATP7A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP7A on UCSC Golden Path with GeneCards custom track

Promoters for ATP7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP7A on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP7A Gene

Chromosome:
X
Start:
77,910,656 bp from pter
End:
78,050,395 bp from pter
Size:
139,740 bases
Orientation:
Plus strand

Genomic View for ATP7A Gene

Genes around ATP7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP7A Gene

Proteins for ATP7A Gene

  • Protein details for ATP7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04656-ATP7A_HUMAN
    Recommended name:
    Copper-transporting ATPase 1
    Protein Accession:
    Q04656
    Secondary Accessions:
    • B1AT72
    • O00227
    • O00745
    • Q9BYY8

    Protein attributes for ATP7A Gene

    Size:
    1500 amino acids
    Molecular mass:
    163374 Da
    Quaternary structure:
    • Monomer. Interacts with PDZD11.

    Three dimensional structures from OCA and Proteopedia for ATP7A Gene

    Alternative splice isoforms for ATP7A Gene

neXtProt entry for ATP7A Gene

Proteomics data for ATP7A Gene at MOPED

Post-translational modifications for ATP7A Gene

  • Glycosylation at Asn 686 and Asn 975
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP7A Gene

Antibody Products

Domains & Families for ATP7A Gene

Gene Families for ATP7A Gene

Suggested Antigen Peptide Sequences for ATP7A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04656

UniProtKB/Swiss-Prot:

ATP7A_HUMAN :
  • The C-terminal di-leucine, 1487-Leu-Leu-1488, is an endocytic targeting signal which functions in retrieving recycling from the plasma membrane to the TGN. Mutation of the di-leucine signal results in the accumulation of the protein in the plasma membrane.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
Domain:
  • The C-terminal di-leucine, 1487-Leu-Leu-1488, is an endocytic targeting signal which functions in retrieving recycling from the plasma membrane to the TGN. Mutation of the di-leucine signal results in the accumulation of the protein in the plasma membrane.
  • Contains 6 HMA domains.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
genes like me logo Genes that share domains with ATP7A: view

Function for ATP7A Gene

Molecular function for ATP7A Gene

GENATLAS Biochemistry:
copper binding P-type ATPase 7A,several alternatively spliced isoforms,expressed in the trans-Golgi network of all tissues except liver for the full length protein and in the endoplasmic reticulum for the spliced form,rapidly relocalized to the plasma membrane using a C teminal di-leucine endocytic signal in case of elevated copper levels,involved in subcellular transport and copper efflux,incorporating the copper in cuproenzyme like cytochrome oxidase,dopamine B-hydroxylase,lysyl oxydase
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Cu(+)(Side 1) = ADP + phosphate + Cu(+)(Side 2).
UniProtKB/Swiss-Prot Function:
May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.

Enzyme Numbers (IUBMB) for ATP7A Gene

genes like me logo Genes that share phenotypes with ATP7A: view

Human Phenotype Ontology for ATP7A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP7A Gene

Localization for ATP7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP7A Gene

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Cycles constitutively between the trans-Golgi network (TGN) and the plasma membrane (PubMed:9147644). Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels. {ECO:0000269 PubMed:9147644}.
Isoform 3: Cytoplasm, cytosol.
Isoform 5: Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP7A Gene COMPARTMENTS Subcellular localization image for ATP7A gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
plasma membrane 5
cytosol 4
extracellular 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ATP7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005770 late endosome IDA 8943055
GO:0005829 cytosol IEA --
GO:0016323 basolateral plasma membrane IDA 16397091
GO:0043025 neuronal cell body ISS --
genes like me logo Genes that share ontologies with ATP7A: view

Pathways & Interactions for ATP7A Gene

genes like me logo Genes that share pathways with ATP7A: view

Gene Ontology (GO) - Biological Process for ATP7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species TAS --
GO:0001701 in utero embryonic development IEA --
GO:0001974 blood vessel remodeling ISS --
GO:0002082 regulation of oxidative phosphorylation ISS --
GO:0006584 catecholamine metabolic process ISS --
genes like me logo Genes that share ontologies with ATP7A: view

No data available for SIGNOR curated interactions for ATP7A Gene

Drugs & Compounds for ATP7A Gene

(17) Drugs for ATP7A Gene - From: DrugBank, PharmGKB, ClinicalTrials, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Transporter, substrate Inhibits DNA synthesis,chemotherapy drug, Platinum 2569
Carboplatin Approved Pharma Transporter, substrate Antitumor agent that forms platinum-DNA adducts., Platinum 1910
Oxaliplatin Approved, Investigational Pharma Transporter, substrate Antitumor agent, Platinum 1338
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1859
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, Immunomodulatory agents, TNF-alpha synthesis inhibitor 1043

(11) Additional Compounds for ATP7A Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ATP7A: view

Transcripts for ATP7A Gene

mRNA/cDNA for ATP7A Gene

Unigene Clusters for ATP7A Gene

ATPase, Cu++ transporting, alpha polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP7A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: -
SP3:

ExUns: 24
SP1:
SP2:
SP3:

Relevant External Links for ATP7A Gene

GeneLoc Exon Structure for
ATP7A
ECgene alternative splicing isoforms for
ATP7A

Expression for ATP7A Gene

mRNA expression in normal human tissues for ATP7A Gene

Protein differential expression in normal tissues from HIPED for ATP7A Gene

This gene is overexpressed in Breast (41.3) and Heart (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP7A Gene



SOURCE GeneReport for Unigene cluster for ATP7A Gene Hs.496414

mRNA Expression by UniProt/SwissProt for ATP7A Gene

Q04656-ATP7A_HUMAN
Tissue specificity: Found in most tissues except liver. Isoform 3 is widely expressed including in liver cell lines. Isoform 1 is expressed in fibroblasts, choriocarcinoma, colon carcinoma and neuroblastoma cell lines. Isoform 2 is expressed in fibroblasts, colon carcinoma and neuroblastoma cell lines.
genes like me logo Genes that share expression patterns with ATP7A: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for ATP7A Gene

Orthologs for ATP7A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP7A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP7A 35
  • 92.31 (n)
  • 92.6 (a)
ATP7A 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP7A 35
  • 92.26 (n)
  • 92.53 (a)
ATP7A 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp7a 35
  • 88.37 (n)
  • 89.87 (a)
Atp7a 16
Atp7a 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP7A 35
  • 99.53 (n)
  • 99.46 (a)
ATP7A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp7a 35
  • 87.57 (n)
  • 89.27 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP7A 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP7A 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP7A 35
  • 73.32 (n)
  • 73.81 (a)
ATP7A 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP7A 36
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii atp7a 35
  • 64.24 (n)
  • 66.78 (a)
atp7a 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1886 37
  • 47 (a)
ATP7 35
  • 52.8 (n)
  • 50.93 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011754 35
  • 53.22 (n)
  • 53.64 (a)
worm
(Caenorhabditis elegans)
Secernentea cua-1 35
  • 52.29 (n)
  • 48.47 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07447g 35
  • 48.15 (n)
  • 38.52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCA1 36
  • 23 (a)
OneToMany
CCC2 35
  • 47.81 (n)
  • 37.75 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HMA5 35
  • 51.65 (n)
  • 44.72 (a)
rice
(Oryza sativa)
Liliopsida Os04g0556000 35
  • 49.17 (n)
  • 42.04 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2923 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08341 35
  • 46.42 (n)
  • 38.78 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ccc2 35
  • 49.7 (n)
  • 42.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for ATP7A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATP7A Gene

ENSEMBL:
Gene Tree for ATP7A (if available)
TreeFam:
Gene Tree for ATP7A (if available)

Paralogs for ATP7A Gene

Paralogs for ATP7A Gene

(1) SIMAP similar genes for ATP7A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ATP7A: view

Variants for ATP7A Gene

Sequence variations from dbSNP and Humsavar for ATP7A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_000699 Menkes disease (MNKD)
VAR_000700 Menkes disease (MNKD)
VAR_000701 Menkes disease (MNKD)
VAR_000702 Menkes disease (MNKD)
VAR_009999 Occipital horn syndrome (OHS)

Structural Variations from Database of Genomic Variants (DGV) for ATP7A Gene

Variant ID Type Subtype PubMed ID
dgv2453e1 CNV Complex 17122850

Variation tolerance for ATP7A Gene

Residual Variation Intolerance Score: 81.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.27; 90.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP7A Gene

HapMap Linkage Disequilibrium report
ATP7A
Human Gene Mutation Database (HGMD)
ATP7A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP7A Gene

Disorders for ATP7A Gene

MalaCards: The human disease database

(15) MalaCards diseases for ATP7A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
occipital horn syndrome
  • stomatocytosis i
spinal muscular atrophy, distal, x-linked 3
  • x-linked distal spinal muscular atrophy type 3
menkes disease
  • copper transport disease
atp7a-related copper transport disorders
muscular atrophy
  • amyotrophia nos
- elite association - COSMIC cancer census association via MalaCards
Search ATP7A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATP7A_HUMAN
  • Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM:300489]: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269 PubMed:20170900}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Menkes disease (MNKD) [MIM:309400]: An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. {ECO:0000269 PubMed:10079817, ECO:0000269 PubMed:10319589, ECO:0000269 PubMed:10401004, ECO:0000269 PubMed:11241493, ECO:0000269 PubMed:11350187, ECO:0000269 PubMed:15981243, ECO:0000269 PubMed:22992316, ECO:0000269 PubMed:7977350, ECO:0000269 PubMed:8981948}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Occipital horn syndrome (OHS) [MIM:304150]: An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga. {ECO:0000269 PubMed:11431706, ECO:0000269 PubMed:17108763, ECO:0000269 PubMed:9246006}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP7A

Genetic Association Database (GAD)
ATP7A
Human Genome Epidemiology (HuGE) Navigator
ATP7A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP7A
genes like me logo Genes that share disorders with ATP7A: view

No data available for Genatlas for ATP7A Gene

Publications for ATP7A Gene

  1. Mutation spectrum of ATP7A, the gene defective in Menkes disease. (PMID: 10079817) Tuemer Z. … Horn N. (Adv. Exp. Med. Biol. 1999) 2 3 4 67
  2. Copper transport systems are involved in multidrug resistance and drug transport. (PMID: 19075668) Furukawa T. … Akiyama S. (Curr. Med. Chem. 2008) 23 25 26
  3. Missense mutations in the copper transporter gene ATP7A cause X- linked distal hereditary motor neuropathy. (PMID: 20170900) Kennerson M.L. … Garbern J.Y. (Am. J. Hum. Genet. 2010) 3 23
  4. The binding mode of ATP revealed by the solution structure of the N-domain of human ATP7A. (PMID: 19917612) Banci L. … Rosato A. (J. Biol. Chem. 2010) 3 23
  5. [From gene to disease: copper-transporting P ATPases alteration]. (PMID: 19046832) Garcia Hejl C. … Ceppa F. (Pathol. Biol. 2009) 3 23

Products for ATP7A Gene

Sources for ATP7A Gene

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