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ATP7A

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GENERAL INFORMATION

Gene name

 ATP7A

Gene description

 ATPase, Cu++ transporting, alpha polypeptide

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

 Intracellular,Membrane

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the Golgi apparatus & vesicles.

RNA cell category

 Mixed

Protein evidence

 Evidence at protein level

Main location

 Localized to the Golgi apparatus (supported), Vesicles (supported)

DATA RELIABILITY

Reliability score

 Supported based on 2 antibodies.
HPA012887 , HPA048107
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the Golgi apparatus & vesicles.

Main location

 Golgi apparatus (supported), Vesicles (supported)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA012887 A-431 Vesicles
HPA012887 U-2 OS Vesicles
HPA012887 U-251 MG Vesicles
HPA048107 A-431 No staining    
HPA048107 HeLa Golgi apparatus
HPA048107 U-2 OS Golgi apparatus

GENE INFORMATION

Gene name

 ATP7A (HGNC Symbol)

Synonyms

 MNK

Description

 ATPase, Cu++ transporting, alpha polypeptide (HGNC Symbol)

Entrez gene summary

 This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]

Chromosome

 X

Cytoband

 q21.1

Chromosome location (bp)

 77910656 - 78050395

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000165240 (version 83.38)

Entrez gene

 538

UniProt

 Q04656 (UniProt - Evidence at protein level)

neXtProt

 NX_Q04656

Antibodypedia

 ATP7A antibodies

PROTEIN BROWSER
ATP7A-001
ATP7A-201
ATP7A-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ATP7A-001
ENSP00000345728
ENST00000341514
Q04656 [Direct mapping]
Copper-transporting ATPase 1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0000302 [response to reactive oxygen species]
GO:0001568 [blood vessel development]
GO:0001701 [in utero embryonic development]
GO:0001836 [release of cytochrome c from mitochondria]
GO:0001974 [blood vessel remodeling]
GO:0002082 [regulation of oxidative phosphorylation]
GO:0004008 [copper-exporting ATPase activity]
GO:0005375 [copper ion transmembrane transporter activity]
GO:0005507 [copper ion binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005770 [late endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006568 [tryptophan metabolic process]
GO:0006570 [tyrosine metabolic process]
GO:0006584 [catecholamine metabolic process]
GO:0006812 [cation transport]
GO:0006825 [copper ion transport]
GO:0006878 [cellular copper ion homeostasis]
GO:0007005 [mitochondrion organization]
GO:0007595 [lactation]
GO:0007626 [locomotory behavior]
GO:0010041 [response to iron(III) ion]
GO:0010043 [response to zinc ion]
GO:0010273 [detoxification of copper ion]
GO:0010468 [regulation of gene expression]
GO:0015677 [copper ion import]
GO:0015679 [plasma membrane copper ion transport]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016323 [basolateral plasma membrane]
GO:0016532 [superoxide dismutase copper chaperone activity]
GO:0018205 [peptidyl-lysine modification]
GO:0019430 [removal of superoxide radicals]
GO:0019829 [cation-transporting ATPase activity]
GO:0021702 [cerebellar Purkinje cell differentiation]
GO:0021860 [pyramidal neuron development]
GO:0021954 [central nervous system neuron development]
GO:0030001 [metal ion transport]
GO:0030140 [trans-Golgi network transport vesicle]
GO:0030141 [secretory granule]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0031069 [hair follicle morphogenesis]
GO:0031410 [cytoplasmic vesicle]
GO:0031526 [brush border membrane]
GO:0032767 [copper-dependent protein binding]
GO:0034220 [ion transmembrane transport]
GO:0042093 [T-helper cell differentiation]
GO:0042414 [epinephrine metabolic process]
GO:0042415 [norepinephrine metabolic process]
GO:0042417 [dopamine metabolic process]
GO:0042421 [norepinephrine biosynthetic process]
GO:0042428 [serotonin metabolic process]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043085 [positive regulation of catalytic activity]
GO:0043473 [pigmentation]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0043588 [skin development]
GO:0046034 [ATP metabolic process]
GO:0046688 [response to copper ion]
GO:0046872 [metal ion binding]
GO:0048251 [elastic fiber assembly]
GO:0048286 [lung alveolus development]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048553 [negative regulation of metalloenzyme activity]
GO:0048554 [positive regulation of metalloenzyme activity]
GO:0048812 [neuron projection morphogenesis]
GO:0048813 [dendrite morphogenesis]
GO:0051216 [cartilage development]
GO:0051353 [positive regulation of oxidoreductase activity]
GO:0051542 [elastin biosynthetic process]
GO:0055085 [transmembrane transport]
GO:0060003 [copper ion export]
Show all
 1500 aa
163.4 kDa 		No 8
ATP7A-201
ENSP00000343026
ENST00000343533
Q04656 [Direct mapping]
Copper-transporting ATPase 1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0000302 [response to reactive oxygen species]
GO:0001568 [blood vessel development]
GO:0001974 [blood vessel remodeling]
GO:0002082 [regulation of oxidative phosphorylation]
GO:0004008 [copper-exporting ATPase activity]
GO:0005375 [copper ion transmembrane transporter activity]
GO:0005507 [copper ion binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005770 [late endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006568 [tryptophan metabolic process]
GO:0006584 [catecholamine metabolic process]
GO:0006812 [cation transport]
GO:0006825 [copper ion transport]
GO:0006878 [cellular copper ion homeostasis]
GO:0007005 [mitochondrion organization]
GO:0007626 [locomotory behavior]
GO:0010273 [detoxification of copper ion]
GO:0015677 [copper ion import]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016323 [basolateral plasma membrane]
GO:0016532 [superoxide dismutase copper chaperone activity]
GO:0018205 [peptidyl-lysine modification]
GO:0019430 [removal of superoxide radicals]
GO:0019829 [cation-transporting ATPase activity]
GO:0021702 [cerebellar Purkinje cell differentiation]
GO:0021860 [pyramidal neuron development]
GO:0021954 [central nervous system neuron development]
GO:0030001 [metal ion transport]
GO:0030140 [trans-Golgi network transport vesicle]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0031069 [hair follicle morphogenesis]
GO:0032767 [copper-dependent protein binding]
GO:0034220 [ion transmembrane transport]
GO:0042093 [T-helper cell differentiation]
GO:0042414 [epinephrine metabolic process]
GO:0042415 [norepinephrine metabolic process]
GO:0042417 [dopamine metabolic process]
GO:0042428 [serotonin metabolic process]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043085 [positive regulation of catalytic activity]
GO:0043473 [pigmentation]
GO:0043588 [skin development]
GO:0046872 [metal ion binding]
GO:0048251 [elastic fiber assembly]
GO:0048286 [lung alveolus development]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048553 [negative regulation of metalloenzyme activity]
GO:0048554 [positive regulation of metalloenzyme activity]
GO:0048812 [neuron projection morphogenesis]
GO:0051216 [cartilage development]
GO:0051353 [positive regulation of oxidoreductase activity]
GO:0051542 [elastin biosynthetic process]
GO:0055085 [transmembrane transport]
GO:0060003 [copper ion export]
Show all
 1422 aa
154.4 kDa 		No 6
ATP7A-202
ENSP00000343678
ENST00000350425
Q04656 [Direct mapping]
Copper-transporting ATPase 1
Q762B6 [Target identity:100%; Query identity:100%]
ATP7A protein
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Transporters
   Primary Active Transporters
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000302 [response to reactive oxygen species]
GO:0001568 [blood vessel development]
GO:0001974 [blood vessel remodeling]
GO:0002082 [regulation of oxidative phosphorylation]
GO:0004008 [copper-exporting ATPase activity]
GO:0005375 [copper ion transmembrane transporter activity]
GO:0005507 [copper ion binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005770 [late endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006568 [tryptophan metabolic process]
GO:0006584 [catecholamine metabolic process]
GO:0006825 [copper ion transport]
GO:0006878 [cellular copper ion homeostasis]
GO:0007005 [mitochondrion organization]
GO:0007626 [locomotory behavior]
GO:0010273 [detoxification of copper ion]
GO:0015677 [copper ion import]
GO:0016020 [membrane]
GO:0016323 [basolateral plasma membrane]
GO:0016532 [superoxide dismutase copper chaperone activity]
GO:0018205 [peptidyl-lysine modification]
GO:0019430 [removal of superoxide radicals]
GO:0021702 [cerebellar Purkinje cell differentiation]
GO:0021860 [pyramidal neuron development]
GO:0021954 [central nervous system neuron development]
GO:0030001 [metal ion transport]
GO:0030140 [trans-Golgi network transport vesicle]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0031069 [hair follicle morphogenesis]
GO:0032767 [copper-dependent protein binding]
GO:0034220 [ion transmembrane transport]
GO:0042093 [T-helper cell differentiation]
GO:0042414 [epinephrine metabolic process]
GO:0042415 [norepinephrine metabolic process]
GO:0042417 [dopamine metabolic process]
GO:0042428 [serotonin metabolic process]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043085 [positive regulation of catalytic activity]
GO:0043473 [pigmentation]
GO:0043588 [skin development]
GO:0046872 [metal ion binding]
GO:0048251 [elastic fiber assembly]
GO:0048286 [lung alveolus development]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048553 [negative regulation of metalloenzyme activity]
GO:0048554 [positive regulation of metalloenzyme activity]
GO:0048812 [neuron projection morphogenesis]
GO:0051216 [cartilage development]
GO:0051353 [positive regulation of oxidoreductase activity]
GO:0051542 [elastin biosynthetic process]
GO:0055085 [transmembrane transport]
GO:0060003 [copper ion export]
Show all
 274 aa
30.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.