HUMAN:ATP7A

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	ATP7A (synonyms: MC1, MNK)
Protein Name(s)	Copper-transporting ATPase 1 Copper pump 1 Menkes disease-associated protein
External Links
UniProt	Q04656
EMBL	L06133 X82336 X82337 X82338 X82339 X82340 X82341 X82342 X82343 X82344 X82345 X82346 X82347 X82348 X82349 X82350 X82351 X82352 X82353 X82354 X82355 X82356 AL645821 CH471104 U27381 U27361 U27362 U27363 U27365 U27366 U27367 U27368 U27369 U27370 U27371 U27372 U27373 U27374 U27375 U27376 U27377 U27378 U27379 U27380 X69208 L06476 Z94801 Z94753 AY011418
CCDS	CCDS35339.1 CCDS75997.1
PIR	S36149
RefSeq	NP_000043.4 NP_001269153.1
UniGene	Hs.496414 Hs.733232
PDB	1AW0 1KVI 1KVJ 1Q8L 1S6O 1S6U 1Y3J 1Y3K 1YJR 1YJT 1YJU 1YJV 2AW0 2G9O 2GA7 2K1R 2KIJ 2KMV 2KMX 3CJK 5T7L
PDBsum	1AW0 1KVI 1KVJ 1Q8L 1S6O 1S6U 1Y3J 1Y3K 1YJR 1YJT 1YJU 1YJV 2AW0 2G9O 2GA7 2K1R 2KIJ 2KMV 2KMX 3CJK 5T7L
DisProt	DP00282
ProteinModelPortal	Q04656
SMR	Q04656
BioGrid	107020
IntAct	Q04656
MINT	MINT-106053
STRING	9606.ENSP00000345728
DrugBank	DB00958 DB00515 DB00526
TCDB	3.A.3.5.6
iPTMnet	Q04656
PhosphoSitePlus	Q04656
DMDM	223590241
MaxQB	Q04656
PaxDb	Q04656
PeptideAtlas	Q04656
PRIDE	Q04656
DNASU	538
Ensembl	ENST00000341514 ENST00000343533 ENST00000350425
GeneID	538
KEGG	hsa:538
UCSC	uc004ecx.6
CTD	538
DisGeNET	538
GeneCards	ATP7A
GeneReviews	ATP7A
HGNC	HGNC:869
HPA	HPA012887 HPA048107
MalaCards	ATP7A
MIM	300011 300489 304150 309400
neXtProt	NX_Q04656
Orphanet	565 198 139557
PharmGKB	PA72
eggNOG	KOG0207 COG2217
HOGENOM	HOG000250397
HOVERGEN	HBG050616
InParanoid	Q04656
KO	K17686
OrthoDB	EOG091G022E
PhylomeDB	Q04656
TreeFam	TF300460
BRENDA	3.6.3.4
Reactome	[www.reactome.org/content/detail/R-HSA-3299685 R-HSA-3299685] [www.reactome.org/content/detail/R-HSA-6803544 R-HSA-6803544] [www.reactome.org/content/detail/R-HSA-936837 R-HSA-936837]
SABIO-RK	Q04656
ChiTaRS	ATP7A
EvolutionaryTrace	Q04656
GeneWiki	ATP7A
GenomeRNAi	538
PRO	PR:Q04656
Proteomes	UP000005640
Bgee	ENSG00000165240
CleanEx	HS_ATP7A
Genevisible	Q04656
GO	GO:0016324 GO:0016323 GO:0031526 GO:0031252 GO:0005829 GO:0005783 GO:0005794 GO:0016021 GO:0005770 GO:0016020 GO:0045121 GO:0005902 GO:0043005 GO:0043025 GO:0005634 GO:0043204 GO:0048471 GO:0030670 GO:0005886 GO:0030141 GO:0005802 GO:0030140 GO:0005524 GO:0005507 GO:0005375 GO:0032767 GO:0004008 GO:0016532 GO:0019730 GO:0001568 GO:0001974 GO:0051216 GO:0006584 GO:0006878 GO:0071230 GO:0071236 GO:0071276 GO:0071279 GO:0071280 GO:0071456 GO:0071281 GO:0071284 GO:0036120 GO:0021954 GO:0021702 GO:0030199 GO:0060003 GO:0015677 GO:0006825 GO:0010273 GO:0042417 GO:0048251 GO:0051542 GO:0042414 GO:0030198 GO:0031069 GO:0001701 GO:0034220 GO:0007595 GO:0001889 GO:0007626 GO:0048286 GO:0007005 GO:0043086 GO:0034760 GO:0048812 GO:0042415 GO:0018205 GO:0043473 GO:0015679 GO:0043085 GO:0045793 GO:0050679 GO:0010592 GO:0051353 GO:1903036 GO:1904754 GO:0021860 GO:1904959 GO:0010468 GO:0002082 GO:0019430 GO:0010041 GO:0010042 GO:0010043 GO:0042428 GO:0043588 GO:0042093 GO:0006568
CDD	cd00371
Gene3D	1.20.1110.10 3.40.1110.10 3.40.50.1000
InterPro	IPR023299 IPR018303 IPR023298 IPR008250 IPR023214 IPR017969 IPR006122 IPR006121 IPR027256 IPR001757
Pfam	PF00122 PF00403
SUPFAM	SSF55008 SSF56784 SSF81660
TIGRFAMs	TIGR01525 TIGR01494 TIGR00003
PROSITE	PS00154 PS01047 PS50846

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
enables	GO:1903136	cuprous ion binding	PMID:15035611^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:1903136	cuprous ion binding	PMID:14572476^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:19946888^[3]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0030140	trans-Golgi network transport vesicle	PMID:9817923^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0060003	copper ion export	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
	GO:0006825	copper ion transport	PMID:28389643^[5]	ECO:0000315			P	Supplies copper ions to proteins that require the usage of copper ions. Copper ions are supplied through the Trans-Golgi network. Malfunction causes abnormal RNA splicing.	complete CACAO 12759
involved_in	GO:0051542	elastin biosynthetic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0051353	positive regulation of oxidoreductase activity	PMID:11092760^[6]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0051216	cartilage development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0048812	neuron projection morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0043086	negative regulation of catalytic activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:10567439^[7]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:16397091^[8]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:8943055^[9]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0048286	lung alveolus development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0048251	elastic fiber assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0043588	skin development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0043473	pigmentation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0043085	positive regulation of catalytic activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
part_of	GO:0043025	neuronal cell body	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	C	Seeded From UniProt	complete
part_of	GO:0043005	neuron projection	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	C	Seeded From UniProt	complete
involved_in	GO:0042428	serotonin metabolic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0042417	dopamine metabolic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0042415	norepinephrine metabolic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0042414	epinephrine metabolic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0042093	T-helper cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
enables	GO:0032767	copper-dependent protein binding	PMID:10497213^[10]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:O00244	F	Seeded From UniProt	complete
involved_in	GO:0031069	hair follicle morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0030199	collagen fibril organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0030198	extracellular matrix organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0021954	central nervous system neuron development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0021860	pyramidal neuron development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0021702	cerebellar Purkinje cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0019430	removal of superoxide radicals	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0018205	peptidyl-lysine modification	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
enables	GO:0016532	superoxide dismutase copper chaperone activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	F	Seeded From UniProt	complete
part_of	GO:0016323	basolateral plasma membrane	PMID:16397091^[8]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0015677	copper ion import	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0010273	detoxification of copper ion	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0007626	locomotory behavior	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0007005	mitochondrion organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0006878	cellular copper ion homeostasis	PMID:16397091^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0006825	copper ion transport	PMID:11092760^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0006584	catecholamine metabolic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0006568	tryptophan metabolic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:12812980^[11]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005802	trans-Golgi network	PMID:12812980^[11]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005802	trans-Golgi network	PMID:8943055^[9]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	PMID:9467005^[12]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005770	late endosome	PMID:8943055^[9]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0005507	copper ion binding	PMID:15670166^[13]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0005375	copper ion transmembrane transporter activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	F	Seeded From UniProt	complete
enables	GO:0004008	copper-exporting ATPase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	F	Seeded From UniProt	complete
involved_in	GO:0002082	regulation of oxidative phosphorylation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0001974	blood vessel remodeling	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0001568	blood vessel development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q64430	P	Seeded From UniProt	complete
involved_in	GO:0060003	copper ion export	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:99400 PANTHER:PTN000642970 RGD:2179	P	Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001185001 RGD:2179 RGD:2180 UniProtKB:P35670 UniProtKB:Q04656	C	Seeded From UniProt	complete
enables	GO:0043682	copper-transporting ATPase activity	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:103297 PANTHER:PTN000642961 UniProtKB:P35670	F	Seeded From UniProt	complete
involved_in	GO:0006878	cellular copper ion homeostasis	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0030343 MGI:MGI:99400 PANTHER:PTN000642970 UniProtKB:Q04656	P	Seeded From UniProt	complete
part_of	GO:0005802	trans-Golgi network	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:103297 MGI:MGI:99400 PANTHER:PTN001185001 RGD:2179 RGD:2180 UniProtKB:P35670 UniProtKB:Q04656	C	Seeded From UniProt	complete
enables	GO:0004008	copper-exporting ATPase activity	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:99400 PANTHER:PTN000642970	F	Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0099132	ATP hydrolysis coupled cation transmembrane transport	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0019829	P	Seeded From UniProt	complete
involved_in	GO:0099132	ATP hydrolysis coupled cation transmembrane transport	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0043682	P	Seeded From UniProt	complete
involved_in	GO:1904959	regulation of cytochrome-c oxidase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:1904754	positive regulation of vascular associated smooth muscle cell migration	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:1903036	positive regulation of response to wounding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0071456	cellular response to hypoxia	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0071284	cellular response to lead ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0071281	cellular response to iron ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0071280	cellular response to copper ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0071279	cellular response to cobalt ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0071276	cellular response to cadmium ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0071236	cellular response to antibiotic	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0071230	cellular response to amino acid stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0060003	copper ion export	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
enables	GO:0051087	chaperone binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	F	Seeded From UniProt	complete
involved_in	GO:0050679	positive regulation of epithelial cell proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
enables	GO:0048365	Rac GTPase binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	F	Seeded From UniProt	complete
involved_in	GO:0046688	response to copper ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0045793	positive regulation of cell size	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
part_of	GO:0045121	membrane raft	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0043204	perikaryon	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
involved_in	GO:0036120	cellular response to platelet-derived growth factor stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0034760	negative regulation of iron ion transmembrane transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
part_of	GO:0031526	brush border membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0031252	cell leading edge	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0030141	secretory granule	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0016323	basolateral plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
involved_in	GO:0010592	positive regulation of lamellipodium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0010468	regulation of gene expression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0010288	response to lead ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0010043	response to zinc ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0010042	response to manganese ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0010041	response to iron(III) ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0007595	lactation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
part_of	GO:0005902	microvillus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0005802	trans-Golgi network	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0005770	late endosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	C	Seeded From UniProt	complete
involved_in	GO:0001889	liver development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
involved_in	GO:0001701	in utero embryonic development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70705 ensembl:ENSRNOP00000073176	P	Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR023299	F	Seeded From UniProt	complete
enables	GO:0005507	copper ion binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006122	F	Seeded From UniProt	complete
involved_in	GO:0006812	cation transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR027256	P	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001757 InterPro:IPR027256	C	Seeded From UniProt	complete
enables	GO:0019829	cation-transporting ATPase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR027256	F	Seeded From UniProt	complete
involved_in	GO:0030001	metal ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006121 InterPro:IPR017969 InterPro:IPR036163	P	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006121 InterPro:IPR017969 InterPro:IPR036163	F	Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	PMID:9467005^[12]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0005524	ATP binding	PMID:9817923^[4]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0034220	ion transmembrane transport	Reactome:R-HSA-936837	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0030670	phagocytic vesicle membrane	Reactome:R-HSA-6803545	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0019730	antimicrobial humoral response	Reactome:R-HSA-6803157	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-936802	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F	Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F	Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0256 UniProtKB-SubCell:SL-0095	C	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C	Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0333 UniProtKB-SubCell:SL-0132	C	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C	Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0406	P	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F	Seeded From UniProt	complete
involved_in	GO:0006825	copper ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0187	P	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0091	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Banci, L et al. (2004) Solution structure and backbone dynamics of the Cu(I) and apo forms of the second metal-binding domain of the Menkes protein ATP7A. Biochemistry 43 3396-403 PubMed GONUTS page
↑ Jones, CE et al. (2003) Structure and metal binding studies of the second copper binding domain of the Menkes ATPase. J. Struct. Biol. 143 209-18 PubMed GONUTS page
↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
↑ ^4.0 ^4.1 Petris, MJ et al. (1998) A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum. Mol. Genet. 7 2063-71 PubMed GONUTS page
↑ Skjørringe, T et al. (2017) Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. Sci Rep 7 757 PubMed GONUTS page
↑ ^6.0 ^6.1 Petris, MJ et al. (2000) The Menkes copper transporter is required for the activation of tyrosinase. Hum. Mol. Genet. 9 2845-51 PubMed GONUTS page
↑ Ackland, ML et al. (1999) Expression of menkes copper-transporting ATPase, MNK, in the lactating human breast: possible role in copper transport into milk. J. Histochem. Cytochem. 47 1553-62 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 Ke, BX et al. (2006) Alteration of copper physiology in mice overexpressing the human Menkes protein ATP7A. Am. J. Physiol. Regul. Integr. Comp. Physiol. 290 R1460-7 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Yamaguchi, Y et al. (1996) Biochemical characterization and intracellular localization of the Menkes disease protein. Proc. Natl. Acad. Sci. U.S.A. 93 14030-5 PubMed GONUTS page
↑ Larin, D et al. (1999) Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p. J. Biol. Chem. 274 28497-504 PubMed GONUTS page
↑ ^11.0 ^11.1 Cobbold, C et al. (2003) The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. Hum. Mol. Genet. 12 1523-33 PubMed GONUTS page
↑ ^12.0 ^12.1 Qi, M & Byers, PH (1998) Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome. Hum. Mol. Genet. 7 465-9 PubMed GONUTS page
↑ Banci, L et al. (2005) An NMR study of the interaction between the human copper(I) chaperone and the second and fifth metal-binding domains of the Menkes protein. FEBS J. 272 865-71 PubMed GONUTS page
↑ ^14.0 ^14.1 ^14.2 ^14.3 ^14.4 ^14.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:15035611-1] Banci, L et al. (2004) Solution structure and backbone dynamics of the Cu(I) and apo forms of the second metal-binding domain of the Menkes protein ATP7A. Biochemistry 43 3396-403 PubMed GONUTS page

[PMID:14572476-2] Jones, CE et al. (2003) Structure and metal binding studies of the second copper binding domain of the Menkes ATPase. J. Struct. Biol. 143 209-18 PubMed GONUTS page

[PMID:19946888-3] Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page

[PMID:9817923-4] 4.0 ^4.1 Petris, MJ et al. (1998) A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum. Mol. Genet. 7 2063-71 PubMed GONUTS page

[PMID:28389643-5] Skjørringe, T et al. (2017) Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. Sci Rep 7 757 PubMed GONUTS page

[PMID:11092760-6] 6.0 ^6.1 Petris, MJ et al. (2000) The Menkes copper transporter is required for the activation of tyrosinase. Hum. Mol. Genet. 9 2845-51 PubMed GONUTS page

[PMID:10567439-7] Ackland, ML et al. (1999) Expression of menkes copper-transporting ATPase, MNK, in the lactating human breast: possible role in copper transport into milk. J. Histochem. Cytochem. 47 1553-62 PubMed GONUTS page

[PMID:16397091-8] 8.0 ^8.1 ^8.2 Ke, BX et al. (2006) Alteration of copper physiology in mice overexpressing the human Menkes protein ATP7A. Am. J. Physiol. Regul. Integr. Comp. Physiol. 290 R1460-7 PubMed GONUTS page

[PMID:8943055-9] 9.0 ^9.1 ^9.2 Yamaguchi, Y et al. (1996) Biochemical characterization and intracellular localization of the Menkes disease protein. Proc. Natl. Acad. Sci. U.S.A. 93 14030-5 PubMed GONUTS page

[PMID:10497213-10] Larin, D et al. (1999) Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p. J. Biol. Chem. 274 28497-504 PubMed GONUTS page

[PMID:12812980-11] 11.0 ^11.1 Cobbold, C et al. (2003) The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. Hum. Mol. Genet. 12 1523-33 PubMed GONUTS page

[PMID:9467005-12] 12.0 ^12.1 Qi, M & Byers, PH (1998) Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome. Hum. Mol. Genet. 7 465-9 PubMed GONUTS page

[PMID:15670166-13] Banci, L et al. (2005) An NMR study of the interaction between the human copper(I) chaperone and the second and fifth metal-binding domains of the Menkes protein. FEBS J. 272 865-71 PubMed GONUTS page

[PMID:21873635-14] 14.0 ^14.1 ^14.2 ^14.3 ^14.4 ^14.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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