Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | ATP7A | contributors: mct - updated : 01-10-2017 |
HGNC name | ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) |
HGNC id | 869 |
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Corresponding disease |
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Location | Xq21.1 Physical location : 77.166.193 - 77.305.891 | ||||||
Synonym name | |||||||
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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) |
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10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
cell lineage |
cell lines |
fluid/secretion |
at STAGE |
physiological period | embryo |
Text | essential for notochord development ![]() |
PROTEIN |
PHYSICAL PROPERTIES |
STRUCTURE |
motifs/domains
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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 | |
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CATEGORY | enzyme , transport carrier |
SUBCELLULAR LOCALIZATION
| plasma membrane |
| intracellular |
intracellular,cytoplasm,organelle,membrane | |
intracellular,cytoplasm,organelle,endoplasmic reticulum | |
intracellular,cytoplasm,organelle,Golgi | |
intracellular,cytoplasm,organelle,endosome | |
intracellular,cytoplasm,cytosolic | |
text | |
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basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | development |
text | |
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PATHWAY |
metabolism | metal |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule | metal binding, |
protein | |
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cell & other |
REGULATION |
Other | mechanism of ATP7A regulation in which copper stabilizes the protein, possibly complementing HIF2A-mediated transcriptional induction during iron deficiency ![]() |
ASSOCIATED DISORDERS |
corresponding disease(s) | MNK , OHS , DSMAX |
Other morbid association(s) |
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Susceptibility |
Variant & Polymorphism | |
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Candidate gene | |||||||||||||
Marker | |||||||||||||
Therapy target | |||||||||||||
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ANIMAL & CELL MODELS |