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FLASH GENE
Symbol ATP7A contributors: mct - updated : 07-04-2010
HGNC name ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)
HGNC id 869
Corresponding disease
DSMAX distal, spinal muscular atrophy, recessive
MNK Menkes syndrome
OHS occipital horn syndrome, cutis laxa
Location Xq21.1      Physical location : 77.166.193 - 77.305.891
Synonym name
  • Copper pump 1
  • Copper-transporting ATPase 1
  • Menkes disease-associated protein
  • Cu++-transporting P-type ATPase
    • Synonym symbol(s) ATPP1, MK, MC1, SMAX3, FLJ17790
    EC.number 3.6.3.4, 3.6.3.10
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text PGAM1P embedded in large (60kb) intron 1, see symbol
    STRUCTURE 139.70 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC389874 X cellular nucleic acid binding protein-like LOC392497 X similar to 40S ribosomal protein S6 (Phosphoprotein NP33) LOC286493 Xq13.2 similar to Interferon-inducible, double stranded RNA dependent inhibitor, protein-kinase LOC392498 X similar to 40S ribosomal protein S7 (S8) SLC16A2 Xq13.2 solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter) PABPCP3 Xq13 poly(A) binding protein, cytoplasmic, pseudogene 3 RNF12 Xq13-q21 ring finger protein 12 KIAA2022 Xq13.2 KIAA2022 protein ABCB7 Xq13 ATP-binding cassette, sub-family B (MDR/TAP), member 7 MGC23937 Xq13.2 hypothetical protein MGC23937 similar to CG4798 LOC389875 X similar to telomeric repeat binding factor 1 isoform 2; Telomeric repeat binding factor 1; telomeric repeat binding protein 1 ZDHHC15 Xq13.1 zinc finger, DHHC domain containing 15 BRAF2 Xq13.2 similar to v-raf murine sarcoma viral oncogene homolog B1 pseudogene LOC286495 Xq13.2 similar to Tetratricopeptide repeat protein 3 (TPR repeat protein D) HCA3 Xq13.2 hepatocellular carcinoma-associated protein HCA3 MGC874 Xq13.2 hypothetical protein MGC874 LDHBP Xq13.2-q13.3 lactate dehydrogenase B pseudogene KIAA1587 Xq13.2 hepatocellular carcinoma-associated protein HCA1 LOC392499 X similar to hypothetical protein FLJ13611 ATRX Xq13.3 alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) DKFZp564K142 Xq13.3 implantation-associated protein COX7B Xq13.1 cytochrome c oxidase subunit VIIb ATP7A Xq13.3 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) PGK1 Xq13.3 phosphoglycerate kinase 1 TAF9L Xq13.1-q21.1 TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa CYSLTR1 Xq13-q21 cysteinyl leukotriene receptor 1 ZCCHC5 Xq13.3 zinc finger, CCHC domain containing 5 GPR23 Xq13-q21.1 G protein-coupled receptor 23 P2RY10 Xq21.1 purinergic receptor P2Y, G-protein coupled, 10 FKSG79 Xq13.3 putative purinergic receptor LOC347363 Xq13.3 similar to Chromosome-associated kinesin KIF4A (Chromokinesin) ITM2A Xq13.3-q21.2 integral membrane protein 2A TBX22 Xq21.1 T-box 22 MGC26999 Xq21.1 hypothetical protein MGC26999 LOC347364 Xq21.1 similar to WW domain binding protein 11; Npw38-binding protein NpwBP; SH3 domain-binding protein SNP70 LOC286425 Xq21.1 similar to hexokinase 2; hexokinase-2, muscle FLJ38568 Xq21.1 hypothetical protein FLJ38568 LOC286426 Xq21.1 similar to Voltage-dependent anion-selective channel protein 1 (VDAC-1) (hVDAC1) (Outer mitochondrial membrane protein porin 1) (Plasmalemmal porin) (Porin 31HL) (Porin 31HM) NSBP1 Xq13.3 nucleosomal binding protein 1 SH3BGRL Xq13.3 SH3 domain binding glutamic acid-rich protein like
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 8488 163.3 1500 - 2010 20333435
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    Reproductivefemale systemplacenta    Homo sapiens
     male systemtestis    Homo sapiens
    Respiratorylung     Homo sapiens
    Urinarykidney     Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text essential for notochord development
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six repeats of the heavy metal-associated sequence GMTCXXC in the N terminus
  • eight transmembrane spanning segments, with a Golgi localization signal in the third transmembrane domain, missing in the alternatively spliced form
  • a di-leucine motif at the C terminus (essential for the basal perinuclear localization of ATP7A)
    • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to rattus Atp7a (89.27 pc)
    homolog to murine Atp7a (89.54 pc)
    homolog to drosophila ATP7A (51.07 pc)
    Homologene
    FAMILY
  • cation transport ATPase (P-type) family
  • type IB subfamily
    • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    text
  • the trans-Golgi network of all tissues except liver for the full length protein and in the endoplasmic reticulum for the spliced form
  • localization between the trans-Golgi network and the plasma membrane that may be regulated by the accumulation of the adducts with ATOX1 )
    • basic FUNCTION
  • copper binding P-type ATPase 7A, involved in subcellular transport and copper efflux
  • rapidly relocalized to the plasma membrane using a C teminal di-leucine endocytic signal in case of elevated copper levels
  • incorporating the copper in cuproenzyme like cytochrome oxidase, dopamine B-hydroxylase, lysyl oxydase
  • play a central role in distribution of copper in the central nervous system
  • may be having an important role of transporter in motor-neuron maintenance and function
  • play a previously unrecognized role in the pathogenesis of atherosclerosis
  • transport Cu across cellular membranes for biosynthetic and protective functions, enabling Cu to fulfill its role as a catalytic and structural cofactor for many essential enzymes, and to prevent a toxic build-up of Cu inside cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text
  • Cu2+ transport
  • notochord development
    • PATHWAY
    metabolism metal
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Cu2+
    • protein
  • tyrosinase, copper dependent enzyme (activation of tyrosinase)
  • interaction between ATOX1 and a metal-binding domain in ATP7A
  • interacting with CLU (chaperone-like role for clusterin in facilitating the degradation of ATP7A, ATP7B)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MNK , OHS , DSMAX
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS