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Aliases for ATP7A Gene

Aliases for ATP7A Gene

  • ATPase, Cu++ Transporting, Alpha Polypeptide 2 3
  • Copper Pump 1 2 3 4
  • MNK 3 4 6
  • Menkes Disease-Associated Protein 3 4
  • Copper-Transporting ATPase 1 2 3
  • SMAX3 3 6
  • MK 3 6
  • Cu++-Transporting P-Type ATPase 3
  • Menkes Syndrome 2
  • EC 3.6.3.54 4
  • EC 3.6.3.4 63
  • EC 3.6.3 63
  • DSMAX 3
  • OHS 6
  • MC1 4

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, Cu++ Transporting, Alpha Polypeptide) is a Protein Coding gene. Diseases associated with ATP7A include menkes disease and occipital horn syndrome. Among its related pathways are Cellular Senescence and Ion channel transport. GO annotations related to this gene include copper ion binding and copper-dependent protein binding. 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

Genomic Location for ATP7A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn686 and Asn975
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP7A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ATP7A Gene

Gene Families for ATP7A Gene

HGNC:
  • PATP :ATPases / P-type
IUPHAR :

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 :
  • Q04656
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

Gene Ontology (GO) - Molecular Function for ATP7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0004008 copper-exporting ATPase activity ISS --
GO:0005375 copper ion transmembrane transporter activity ISS --
GO:0005507 copper ion binding IDA 15670166
GO:0005515 protein binding IPI 16051599
genes like me logo Genes that share ontologies with ATP7A: view
genes like me logo Genes that share phenotypes with ATP7A: view

Animal Model Products

CRISPR Products

miRNA for ATP7A Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP7A

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting 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. Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels.
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
plasma membrane 5
cytosol 4
golgi apparatus 3
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:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005802 trans-Golgi network IDA 12812980
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with ATP7A: view

Pathways for ATP7A Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0001568 blood vessel development ISS --
GO:0001701 in utero embryonic development IEA --
GO:0001836 release of cytochrome c from mitochondria IEA --
GO:0001974 blood vessel remodeling ISS --
genes like me logo Genes that share ontologies with ATP7A: view

Compounds for ATP7A Gene

(6) HMDB Compounds for ATP7A Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Copper
  • Cu
7440-50-8
Ondansetron
  • Ondansetron
99614-02-5
Phosphate
  • NFB Orthophosphate
14265-44-2

(3) Drugbank Compounds for ATP7A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Carboplatin
  • CBDCA
41575-94-4 transporter substrate
Cisplatin
  • CDDP
15663-27-1 transporter substrate
Oxaliplatin
  • Diaminocyclohexane Oxalatoplatinum
61825-94-3 transporter substrate

(17) Novoseek inferred chemical compound relationships for ATP7A Gene

Compound -log(P) Hits PubMed IDs
copper 87.7 270
copper histidine 86.2 1
copper(i) 69.8 11
acyl phosphate 66.3 1
oxaliplatin 52.3 6

(2) PharmGKB related drug/compound annotations for ATP7A Gene

Drug/compound Annotation
docetaxel CA
thalidomide CA
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP7A

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATP7A

Flow Cytometry Products

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with ATP7A: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia ATP7A 35
  • 99.53 (n)
  • 99.46 (a)
ATP7A 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ATP7A 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP7A 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp7a 35
  • 87.57 (n)
  • 89.27 (a)
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
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011754 35
  • 53.22 (n)
  • 53.64 (a)
fruit fly
(Drosophila melanogaster)
Insecta ATP7 35
  • 52.8 (n)
  • 50.93 (a)
CG1886 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea cua-1 35
  • 52.29 (n)
  • 48.47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCC2 35
  • 47.81 (n)
  • 37.75 (a)
PCA1 36
  • 23 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07447g 35
  • 48.15 (n)
  • 38.52 (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)
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 intestinalis)
Ascidiacea Cin.2923 35
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

Selected 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 MAF
rs743913 -- 78,010,342(-) GTGAA(C/T)AGAAC intron-variant
rs1062471 -- 78,048,481(+) ATGGA(C/G)TTCTT utr-variant-3-prime, nc-transcript-variant
rs1062472 -- 78,048,530(+) ACACA(C/T)GCAAA utr-variant-3-prime, nc-transcript-variant
rs1062473 -- 78,049,100(+) TTTTT(G/T)GCAAT utr-variant-3-prime, nc-transcript-variant
rs1062474 -- 78,049,139(+) GCTGT(A/C)TTTAC utr-variant-3-prime, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
dgv2453e1 CNV Complex 17122850

Relevant External Links for ATP7A Gene

HapMap Linkage Disequilibrium report
ATP7A
Human Gene Mutation Database (HGMD)
ATP7A
Locus Specific Mutation Databases (LSDB)
ATP7A

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

Disorders for ATP7A Gene

(3) OMIM Diseases for ATP7A Gene (300011)

UniProtKB/Swiss-Prot

ATP7A_HUMAN
  • 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.
  • 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.

(3) University of Copenhagen DISEASES for ATP7A Gene

(17) Novoseek inferred disease relationships for ATP7A Gene

Disease -log(P) Hits PubMed IDs
menkes disease 98.5 123
occipital horn syndrome 96 21
wilson disease 87 26
inclusion body myopathy 51.6 2
neurodegenerative diseases 46.4 10

Relevant External Links for ATP7A

GeneTests
ATP7A
GeneReviews
ATP7A
Genetic Association Database (GAD)
ATP7A
Human Genome Epidemiology (HuGE) Navigator
ATP7A
genes like me logo Genes that share disorders with ATP7A: view

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 23
  2. Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA. (PMID: 9693104) Reddy M.C. … Harris E.D. (Biochem. J. 1998) 3 4 23
  3. The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di- leucine endocytic signal. (PMID: 10484781) Petris M.J. … Mercer J.F.B. (Hum. Mol. Genet. 1999) 3 4 23
  4. Evidence for a Menkes-like protein with a nuclear targeting sequence. (PMID: 10970802) Reddy M.C. … Harris E.D. (Biochem. J. 2000) 3 4 23
  5. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. (PMID: 11241493) Gu Y.-H. … Lee C.-C. (Am. J. Med. Genet. 2001) 3 4 23

Products for ATP7A Gene

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