full name
ATPase copper transporting alpha

synonyms
DSMAX, MK, MNK, SMAX3, ATP7A, ENSG00000165240

HGNC
HGNC:869

Entrez Gene
Gene:538

ENSEMBL
ENSG00000165240
ENSG00000269395

location
chr: X
start: 77166194
stop: 77305892
strand: +

OMIM
OMIM:300011: ATP7A (X-linked recessive inheritance)
OMIM:309400: Menkes disease
OMIM:304150: Occipital horn syndrome
OMIM:300489: Spinal muscular atrophy, distal, X-linked 3

transcripts
NM_000052.5

pathways
Antimicrobial peptides [NCBI:1457777] [REACTOME:R-HSA-6803157] [PUBMED:12615953] [PUBMED:24287494]
Cellular responses to stress [NCBI:1270414] [REACTOME:R-HSA-2262752] [PUBMED:15709958]
Detoxification of Reactive Oxygen Species [NCBI:1270420] [REACTOME:R-HSA-3299685] [PUBMED:23469953] [PUBMED:23268465] [PUBMED:20064600] [PUBMED:22286106] [PUBMED:21473702] [PUBMED:22196163] [PUBMED:21375475] [PUBMED:19061483] [PUBMED:21453242]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Ion channel transport [NCBI:1269950] [REACTOME:R-HSA-983712] [PUBMED:15071553]
Ion influx/efflux at host-pathogen interface [NCBI:1457779] [REACTOME:R-HSA-6803544] [PUBMED:25211180] [PUBMED:26055725]
Ion transport by P-type ATPases [NCBI:1269951] [REACTOME:R-HSA-936837] [PUBMED:15071553]
Mineral absorption [NCBI:212237] [KEGG:hsa04978] [PUBMED:20120011] [PUBMED:12520535] [PUBMED:15618484] [PUBMED:17194590] [PUBMED:21054167] [PUBMED:19448074] [PUBMED:18779302] [PUBMED:18598134] [PUBMED:18277073] [PUBMED:18301276] [PUBMED:19400752] [PUBMED:16431934] [PUBMED:19729436] [PUBMED:18636652] [PUBMED:17943492] [PUBMED:16565477] [PUBMED:18779306]
Platinum drug resistance [NCBI:1404797] [KEGG:hsa01524] [PUBMED:24074238] [PUBMED:26867799] [PUBMED:14609433] [PUBMED:26184483] [PUBMED:24874729] [PUBMED:15607932] [PUBMED:25546083] [PUBMED:25058905] [PUBMED:19190080] [PUBMED:14576837] [PUBMED:20811617] [PUBMED:21892204] [PUBMED:20647037] [PUBMED:17336087] [PUBMED:26886018] [PUBMED:23442359] [PUBMED:17625587]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]