Entity Details

Primary name ATP7A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ04656
EntryNameATP7A_HUMAN
FullNameCopper-transporting ATPase 1
TaxID9606
Evidenceevidence at protein level
Length1500
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesATP7A

GO terms

Show/Hide Table
GOName
GO:0005507 copper ion binding
GO:0015677 copper ion import
GO:0019430 removal of superoxide radicals
GO:0006568 tryptophan metabolic process
GO:0010041 response to iron(III) ion
GO:0031252 cell leading edge
GO:0005886 plasma membrane
GO:0010592 positive regulation of lamellipodium assembly
GO:0030199 collagen fibril organization
GO:0050679 positive regulation of epithelial cell proliferation
GO:1904754 positive regulation of vascular associated smooth muscle cell migration
GO:0005783 endoplasmic reticulum
GO:0043085 positive regulation of catalytic activity
GO:0014069 postsynaptic density
GO:0031526 brush border membrane
GO:0032767 copper-dependent protein binding
GO:0051216 cartilage development
GO:0051353 positive regulation of oxidoreductase activity
GO:1903036 positive regulation of response to wounding
GO:0005902 microvillus
GO:0016020 membrane
GO:0016532 superoxide dismutase copper chaperone activity
GO:0071276 cellular response to cadmium ion
GO:0071279 cellular response to cobalt ion
GO:0071281 cellular response to iron ion
GO:0006825 copper ion transport
GO:0051087 chaperone binding
GO:0032588 trans-Golgi network membrane
GO:0071236 cellular response to antibiotic
GO:0005770 late endosome
GO:0005829 cytosol
GO:0033162 melanosome membrane
GO:0034760 negative regulation of iron ion transmembrane transport
GO:0045793 positive regulation of cell size
GO:0060003 copper ion export
GO:0005634 nucleus
GO:0005794 Golgi apparatus
GO:0034220 ion transmembrane transport
GO:0048286 lung alveolus development
GO:0048812 neuron projection morphogenesis
GO:0051542 elastin biosynthetic process
GO:0010273 detoxification of copper ion
GO:0016323 basolateral plasma membrane
GO:0030140 trans-Golgi network transport vesicle
GO:0030425 dendrite
GO:0043025 neuronal cell body
GO:0019730 antimicrobial humoral response
GO:0031901 early endosome membrane
GO:0043588 skin development
GO:0001974 blood vessel remodeling
GO:0021860 pyramidal neuron development
GO:0048023 positive regulation of melanin biosynthetic process
GO:1903136 cuprous ion binding
GO:0007626 locomotory behavior
GO:0030198 extracellular matrix organization
GO:0036120 cellular response to platelet-derived growth factor stimulus
GO:0043473 pigmentation
GO:0048251 elastic fiber assembly
GO:0071284 cellular response to lead ion
GO:0140581 P-type monovalent copper transporter activity
GO:0007565 female pregnancy
GO:0016021 integral component of membrane
GO:0030670 phagocytic vesicle membrane
GO:0043005 neuron projection
GO:0005524 ATP binding
GO:0006584 catecholamine metabolic process
GO:0010042 response to manganese ion
GO:0030424 axon
GO:0042415 norepinephrine metabolic process
GO:0005802 trans-Golgi network
GO:0018205 peptidyl-lysine modification
GO:0021954 central nervous system neuron development
GO:0042428 serotonin metabolic process
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
GO:0071230 cellular response to amino acid stimulus
GO:0071280 cellular response to copper ion
GO:0021702 cerebellar Purkinje cell differentiation
GO:0043682 P-type divalent copper transporter activity
GO:0001568 blood vessel development
GO:0007595 lactation
GO:0032773 positive regulation of monophenol monooxygenase activity
GO:0071456 cellular response to hypoxia
GO:0006878 cellular copper ion homeostasis
GO:0010043 response to zinc ion
GO:0016324 apical plasma membrane
GO:0010468 regulation of gene expression
GO:0042414 epinephrine metabolic process
GO:0042417 dopamine metabolic process
GO:0001701 in utero embryonic development
GO:0005375 copper ion transmembrane transporter activity
GO:0007005 mitochondrion organization
GO:0001889 liver development
GO:1904959 regulation of cytochrome-c oxidase activity
GO:0002082 regulation of oxidative phosphorylation
GO:0030141 secretory granule
GO:0031069 hair follicle morphogenesis
GO:0031267 small GTPase binding
GO:0042093 T-helper cell differentiation
GO:0043204 perikaryon

Subcellular Location

Show/Hide Table
Subcellular Location
Cell junction
Cell membrane
Cell projection
Cytoplasm
Early endosome membrane
Endoplasmic reticulum
Golgi apparatus
Melanosome membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR001757 P-type ATPaseFamilyFamily
IPR006121 Heavy metal-associated domain, HMADomainDomain
IPR006122 Heavy metal-associated domain, copper ion-bindingDomainDomain
IPR008250 P-type ATPase, A domain superfamilyFamilyHomologous superfamily
IPR017969 Heavy-metal-associated, conserved siteSiteConserved site
IPR018303 P-type ATPase, phosphorylation sitePTMPTM
IPR023298 P-type ATPase, transmembrane domain superfamilyFamilyHomologous superfamily
IPR023299 P-type ATPase, cytoplasmic domain NFamilyHomologous superfamily
IPR027256 P-type ATPase, subfamily IBFamilyFamily
IPR036163 Heavy metal-associated domain superfamilyFamilyHomologous superfamily
IPR036412 HAD-like superfamilyFamilyHomologous superfamily
IPR044492 P-type ATPase, haloacid dehalogenase domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
304150 OMIMOccipital horn syndrome (OHS)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. The disease is caused by variants affecting the gene represented in this entry.
309400 OMIMMenkes disease (MNK)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. The disease is caused by variants affecting the gene represented in this entry.
300489 OMIMDistal spinal muscular atrophy, X-linked, 3 (DSMAX3)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB00515 CisplatinDrugbanksmall molecule
DB00526 OxaliplatinSwissprotsmall molecule
DB00958 CarboplatinSwissprotsmall molecule
DB09130 CopperDrugbanksmall molecule