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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP7A Gene

protein-coding   GIFtS: 71
GCID: GC0XP077166

ATPase, Cu++ Transporting, Alpha Polypeptide

(Previous name: Menkes syndrome)
(Previous symbol: MNK)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, Cu++ Transporting, Alpha Polypeptide1 2     SMAX32 5
MNK1 2 3 5     Menkes Syndrome1
Copper Pump 11 2 3     DSMAX2
Copper-Transporting ATPase 11 2     Cu++-Transporting P-Type ATPase2
Menkes Disease-Associated Protein2 3     MC13
EC 3.6.3.43 8     OHS5
MK2 5     EC 3.6.38

External Ids:    HGNC: 8691   Entrez Gene: 5382   Ensembl: ENSG000001652407   OMIM: 3000115   UniProtKB: Q046563   

Export aliases for ATP7A gene to outside databases

Previous GC identifers: GC0XP072711 GC0XP074127 GC0XP075207 GC0XP075922 GC0XP076972 GC0XP077053 GC0XP070753


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Ion channel transport and SLC-mediated transmembrane transport. GO annotations related to this gene include copper-dependent protein binding and copper ion binding. An important paralog of this gene is ATP7B.

UniProtKB/Swiss-Prot: ATP7A_HUMAN, Q04656
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

Gene Wiki entry for ATP7A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP7A gene promoter:
         N-Myc   RP58   POU2F1   POU2F1a   TGIF   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP7A promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP7A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP7A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21.1   Ensembl cytogenetic band:  Xq21.1   HGNC cytogenetic band: Xq21.1

ATP7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP7A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP077166:  view genomic region     (about GC identifiers)

Start:
77,166,194 bp from pter      End:
77,305,892 bp from pter
Size:
139,699 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATP7A_HUMAN, Q04656 (See protein sequence)
Recommended Name: Copper-transporting ATPase 1  
Size: 1500 amino acids; 163374 Da
Subunit: Monomer. Interacts with PDZD11
Subcellular location: 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
Subcellular location: Isoform 3: Cytoplasm, cytosol (Probable)
Subcellular location: Isoform 5: Endoplasmic reticulum
6/20 PDB 3D structures from and Proteopedia for ATP7A (see all 20):
1AW0 (3D)        1KVI (3D)        1KVJ (3D)        1Q8L (3D)        1S6O (3D)        1S6U (3D)    
Secondary accessions: B1AT72 O00227 O00745 Q9BYY8
Alternative splicing: 6 isoforms:  Q04656-1   Q04656-2   Q04656-3   Q04656-4   Q04656-5   Q04656-6   (Lacks all transmembrane regions and 5 heavy-metal-associated (HMA) domains, but has a putative nuclear localization signal attached at the N-terminus)

Explore the universe of human proteins at neXtProt for ATP7A: NX_Q04656

Explore proteomics data for ATP7A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q04656

  • 4/36 DME Specific Peptides for ATP7A (Q04656) (see all 36)
     IIRFAFQ  VAMVGDG  GILIKGG  GDNSKTA 

    ATP7A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP7A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000043.4  NP_001269153.1  

    ENSEMBL proteins: 
     ENSP00000345728   ENSP00000343026   ENSP00000343678  
    Reactome Protein details: Q04656
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    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005770late endosome IDA8943055
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IDA9467005
    GO:0005802trans-Golgi network IDA12812980
    GO:0005829cytosol IEA--

    ATP7A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: ATP7A 
    Cu2+-ATPase

    5/9 InterPro protein domains (see all 9):
     IPR006121 HeavyMe-assoc_HMA
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR017969 Heavy-metal-associated_CS
     IPR023214 HAD-like_dom

    Graphical View of Domain Structure for InterPro Entry Q04656

    ProtoNet protein and cluster: Q04656

    4 Blocks protein domains:
    IPB001757 ATPase
    IPB001877 Copper-transporting ATPase 1 signature
    IPB006121 Heavy metal transport/detoxification protein
    IPB008250 E1-E2 ATPase-associated region


    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
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily
    Similarity: Contains 6 HMA domains


    ATP7A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATP7A_HUMAN, Q04656
    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
    Catalytic activity: ATP + H(2)O + Cu(2+)(In) = ADP + phosphate + Cu(2+)(Out)

         Genatlas biochemistry entry for ATP7A:
    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

         Enzyme Numbers (IUBMB): EC 3.6.3.41 2 EC 3.6.32

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004008copper-exporting ATPase activity ISS--
    GO:0005375copper ion transmembrane transporter activity ISS--
    GO:0005507copper ion binding IDA15670166
    GO:0005515protein binding IPI16051599
         
    ATP7A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ATP7A:
     Large cells  Synthetic lethal with imatinib 

         15/20 MGI mutant phenotypes (inferred from 40 alleles(MGI details for Atp7a) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     growth/size  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     liver/biliary system  mortality/aging  muscle  nervous system  normal 

    ATP7A for phenotypes           About GeneDecksing

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP7A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    3Platinum Pathway, Pharmacokinetics/Pharmacodynamics
    Platinum Pathway, Pharmacokinetics/Pharmacodynamics
    4Mineral absorption
    Mineral absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for ATP7A
        Transmembrane transport of small molecules
    Ion channel transport
    Ion transport by P-type ATPases

    1 PharmGKB Pathway for ATP7A
        Platinum Pathway, Pharmacokinetics/Pharmacodynamics

    1         Kegg Pathway  (Kegg details for ATP7A):
        Mineral absorption


    ATP7A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP7A

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for ATP7A (Q046562, 3 ENSP000003457284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDZD11Q5EBL82, 3, ENSP000002396664MINT-65999 MINT-1889644 MINT-1889694 MINT-1889721 MINT-66001 MINT-66000 I2D: score=2 STRING: ENSP00000239666
    GLRXP357543, ENSP000002378584I2D: score=1 STRING: ENSP00000237858
    ATOX1O002443, ENSP000003168544I2D: score=3 STRING: ENSP00000316854
    CPP004503, ENSP000002646134I2D: score=1 STRING: ENSP00000264613
    DYNC1H1Q142043I2D: score=1 
    About this table

    Gene Ontology (GO): 5/51 biological process terms (GO ID links to tree view) (see all 51):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development ISS--
    GO:0001701in utero embryonic development IEA--
    GO:0001836release of cytochrome c from mitochondria IEA--
    GO:0001974blood vessel remodeling ISS--
    GO:0002082regulation of oxidative phosphorylation ISS--

    ATP7A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATP7A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ATP7A

    6 HMDB Compounds for ATP7A    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CopperCu (see all 2)7440-50-8--
    OndansetronOndansetron (see all 4)99614-02-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 DrugBank Compounds for ATP7A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CisplatinCDDP (see all 7)15663-27-1transportersubstrate18998134 19075668
    CarboplatinCBDCA (see all 2)41575-94-4transportersubstrate15213293
    OxaliplatinDiaminocyclohexane Oxalatoplatinum (see all 4)61825-94-3transportersubstrate--

    10/17 Novoseek inferred chemical compound relationships for ATP7A gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    copper 87.7 567 14640979 (9), 18356322 (7), 11092760 (7), 17483305 (6) (see all 99)
    copper histidine 86.2 1 11936860 (1)
    copper(i) 69.8 11 16172131 (3), 17545667 (3), 16083905 (2), 15670166 (2) (see all 5)
    acyl phosphate 66.3 1 9257713 (1)
    oxaliplatin 52.3 10 16773204 (2), 15269138 (1), 18030470 (1), 17609664 (1) (see all 5)
    platinum 50.8 25 15269138 (6), 16775422 (1), 17318448 (1), 18030470 (1) (see all 8)
    cisplatin 45.6 36 19075668 (3), 17695505 (3), 18545997 (2), 14676106 (1) (see all 15)
    carboplatin 36.3 2 14676106 (1), 15269138 (1)
    monensin 30.3 2 19075668 (1), 14668139 (1)
    atp 18.4 4 19917612 (2)

    2 PharmGKB related drug/compound annotations for ATP7A gene    About this table
    Drug/compound PharmGKB Annotation
    docetaxelCA  
    thalidomideCA  

    Search CenterWatch for drugs/clinical trials and news about ATP7A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    REFSEQ mRNAs for ATP7A gene (2 alternative transcripts): 
    NM_000052.6  NM_001282224.1  

    Unigene Clusters for ATP7A:

    ATPase, Cu++ transporting, alpha polypeptide
    Hs.496414  [show with all ESTs], Hs.733232  [show with all ESTs]
    Unigene Representative Sequences: NM_000052, AK096667
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341514(uc004ecx.4) ENST00000343533(uc004ecw.2) ENST00000350425(uc004ecv.2)

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    Additional mRNA sequence: AK096667.1 

    4 DOTS entries:

    DT.113626  DT.40131095  DT.95363112  DT.91909488 

    24/69 AceView cDNA sequences (see all 69):

    AU077161 CR605420 BP364137 T27717 BF116191 AU100216 AI819441 AA232726 
    BE892250 CB105184 BF512393 AB117973 BF437097 AI379028 BX503903 BX112297 
    BG943539 W57930 BU431640 BU618703 CO250189 NM_000052 AK096667 BX505347 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ATP7A    About this scheme

    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:      


    ECgene alternative splicing isoforms for ATP7A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP7A expression in normal human tissues (normalized intensities)      ATP7A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATTGATCA
    ATP7A Expression
    About this image


    ATP7A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/28 selected tissues (see all 28) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             neutrophils   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   

    See ATP7A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP7A

    SOURCE GeneReport for Unigene clusters: Hs.496414 Hs.733232

    UniProtKB/Swiss-Prot: ATP7A_HUMAN, Q04656
    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

        SABiosciences Expression via Pathway-Focused PCR Array including ATP7A: 
              Drug Transporters in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP7A gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp7a1 , 5 ATPase, Cu++ transporting, alpha polypeptide1, 5 88.35(n)1
    89.81(a)1
      X (47.36 cM)5
    119771  NM_001109757.11  NP_001103227.11 
     1060272765 
    chicken
    (Gallus gallus)
    Aves ATP7A6
    Uncharacterized protein
    73(a)
    1 ↔ 1
    4(12865315-12889632)
    lizard
    (Anolis carolinensis)
    Reptilia ATP7A6
    Uncharacterized protein
    71(a)
    1 ↔ 1
    GL343420.1(695860-760375)
    zebrafish
    (Danio rerio)
    Actinopterygii atp7a1 ATPase, Cu++ transporting, alpha polypeptide 63.83(n)
    66.55(a)
      564924  NM_001042720.1  NP_001036185.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18863 copper-exporting ATPase 47(a)   10F2   --
    worm
    (Caenorhabditis elegans)
    Secernentea cua-11 Protein CUA-1 52.29(n)
    48.05(a)
      176770  NM_067377.2  NP_499778.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CCC21 Ccc2p 47.95(n)
    37.62(a)
      851862   NP_010556.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HMA51 Cu2+-exporting ATPase 51.54(n)
    44.61(a)
      842650  NM_105023.1  NP_176533.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01966001 hypothetical protein 50.91(n)
    46.51(a)
      4328616  NM_001052728.1  NP_001046193.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP7A gene
    ATP7B2  
    1 SIMAP similar gene for ATP7A using alignment to 2 protein entries:     ATP7A_HUMAN (see all proteins):
    ATP7B

    ATP7A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1545 SNPs in ATP7A are shown (see all 1545)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0100084
    Menkes disease (MNKD)4--see VAR_0100082 A V mis40--------
    VAR_0007004
    Menkes disease (MNKD)4--see VAR_0007002 G R mis40--------
    VAR_0100024
    Menkes disease (MNKD)4--see VAR_0100022 G E mis40--------
    VAR_0232654
    Menkes disease (MNKD)4--see VAR_0232652 G R mis40--------
    VAR_0232724
    Menkes disease (MNKD)4--see VAR_0232722 G R mis40--------
    VAR_0638834
    Occipital horn syndrome (OHS)4--see VAR_0638832 N S mis40--------
    VAR_0007024
    Menkes disease (MNKD)4--see VAR_0007022 G D mis40--------
    VAR_0007014
    Menkes disease (MNKD)4--see VAR_0007012 L P mis40--------
    VAR_0232694
    Menkes disease (MNKD)4--see VAR_0232692 D G mis40--------
    VAR_0099994
    Occipital horn syndrome (OHS)4--see VAR_0099992 S L mis40--------

    HapMap Linkage Disequilibrium report for ATP7A (77166194 - 77305892 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ATP7A:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv2453e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): ATP7A

    Locus Specific Mutation Databases (LSDB): ATP7A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300011   
    OMIM disorders: 309400  304150  300489  
    UniProtKB/Swiss-Prot: ATP7A_HUMAN, Q04656
  • 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. 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. 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/38 diseases for ATP7A (see all 38):    About MalaCards
    menkes disease    occipital horn syndrome    atp7a-related distal motor neuropathy    atp7a-related copper transport disorders
    bladder diverticulum    spinal muscular atrophy, distal, x-linked 3    wilson disease    hair disease
    sialuria    cutis laxa    spinal muscular atrophy    hailey-hailey disease
    distal hereditary motor neuropathy    cerebellar degeneration    muscular atrophy    connective tissue disease
    autosomal recessive disease    sensorineural hearing loss    myopathy    cataract

    3 diseases from the University of Copenhagen DISEASES database for ATP7A:
    Wilson disease     Menkes disease     Autosomal recessive disease

    ATP7A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/17 Novoseek inferred disease relationships for ATP7A gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    menkes disease 98.5 154 14635105 (3), 11431706 (3), 11043517 (3), 12221109 (2) (see all 99)
    occipital horn syndrome 96 25 11936860 (2), 8923001 (2), 12594858 (2), 11431706 (2) (see all 15)
    wilson disease 87 31 15634671 (3), 8921375 (1), 9359859 (1), 12181646 (1) (see all 24)
    inclusion body myopathy 51.6 2 15987957 (1), 16550921 (1)
    neurodegenerative diseases 46.4 10 17003121 (1), 18316734 (1), 18256395 (1), 15634671 (1) (see all 10)
    neurodegeneration 39 2 16549268 (1), 16137991 (1)
    connective tissue diseases 35.2 1 8923001 (1)
    ovarian carcinoma 26 6 14676106 (3), 15269138 (2)
    ovarian cancer 9.3 2 19296535 (1), 19470734 (1)
    developmental delay 4.31 1 16098018 (1)

    GeneTests: ATP7A
    GeneReviews: ATP7A
    Genetic Association Database (GAD): ATP7A
    Human Genome Epidemiology (HuGE) Navigator: ATP7A (1 document)

    Export disorders for ATP7A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP7A gene, integrated from 9 sources (see all 254):
    (articles sorted by number of sources associating them with ATP7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation spectrum of ATP7A, the gene defective in Menkes disease. (PubMed id 10079817)1, 2, 3, 9 Tuemer Z.... Horn N. (1999)
    2. 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. (PubMed id 10484781)1, 2, 9 Petris M.J. and Mercer J.F.B. (1999)
    3. Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network. (PubMed id 9147644)1, 2, 9 Dierick H.A.... Glover T.W. (1997)
    4. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. (PubMed id 11431706)1, 2, 9 Dagenais S.L.... Glover T.W. (2001)
    5. Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA. (PubMed id 9693104)1, 2, 9 Reddy M.C. and Harris E.D. (1998)
    6. Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. (PubMed id 15981243)1, 2, 9 Moeller L.B.... Horn N. (2005)
    7. Molecular structure of the Menkes disease gene (ATP7A). (PubMed id 7490081)1, 2, 9 Dierick H.A.... Mercer J.F.B. (1995)
    8. Missense mutations in the copper transporter gene ATP 7A cause X-linked distal hereditary motor neuropathy. (PubMed id 20170900)1, 2, 9 Kennerson M.L....Garbern J.Y. (2010)
    9. Functional copper transport explains neurologic sparing in occipital horn syndrome. (PubMed id 17108763)1, 2, 9 Tang J....Kaler S.G. (2006)
    10. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. (PubMed id 11241493)1, 2, 9 Gu Y.-H.... Lee C.-C. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 538 HGNC: 869 AceView: ATP7A Ensembl:ENSG00000165240 euGenes: HUgn538
    ECgene: ATP7A Kegg: 538 H-InvDB: ATP7A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP7A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP7A
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt079.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP7A gene:
    Search GeneIP for patents involving ATP7A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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