ATP7A ATPase, Cu++ transporting, alpha polypeptide [Homo sapiens] - Gene

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Summary

Official Symbol: ATP7Aprovided by HGNC
Official Full Name: ATPase, Cu++ transporting, alpha polypeptideprovided by HGNC
Primary source: HGNC:869
Locus tag: RP3-465G10.1
See related: Ensembl:ENSG00000165240; HPRD:02054; MIM:300011; Vega:OTTHUMG00000021885
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MK; MNK; DSMAX; SMAX3; FLJ17790
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 cutis laxa, and occipital horn syndrome. [provided by RefSeq, Oct 2011]

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Genomic context

Location :: Xq21.1

Sequence :: Chromosome: X; NC_000023.10 (77166194..77305892)

See ATP7A in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

ATP7A overexpression played an important role in platinum-resistance of non-small cell lung cancer.
Title: Copper-transporting P-type adenosine triphosphatase (ATP7A) is associated with platinum-resistance in non-small cell lung cancer (NSCLC).
Partial ATP7A gene duplication was identified in 20 unrelated Menkes patients including one patient with Occipital Horn Syndrome (OHS) are estimated from our material to be the disease causing mutation in 4% of the Menkes disease patients.
Title: Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.
Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.
Title: Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.
Binding of canine copper toxicosis protein COMMD1 partially restored the expression, subcellular localization, and copper-exporting activities of the ATP7A mutants.
Title: The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
The lumenal loop Met672-Pro707 of copper-transporting ATPase ATP7A binds metals and facilitates copper release from the intramembrane sites.
Title: The lumenal loop Met672-Pro707 of copper-transporting ATPase ATP7A binds metals and facilitates copper release from the intramembrane sites.
33 novel splice site mutations in ATP7a gene detected in patients with Menkes disease, are described.
Title: Splice site mutations in the ATP7A gene.
Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.
Title: Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.
MNK and WND were differentially localised within the placenta.
Title: Differential intracellular localisation of the Menkes and Wilson copper transporting ATPases in the third trimester human placenta.
The results of this study indicate that the A629P mutation of ATP7A does not have appreciable affects on the stability of copper-bound states but rather destabilizes the characteristic end-to-end beta-sheet.
Title: A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease.
Disturbances of ATP7A and ATP7B function caused by mutations lead to severe metabolic diseases Menkes and Wilson diseases, respectively.
Title: [Structure and function of ATP7A and ATP7B proteins--Cu-transporting ATPases].

Submit: New GeneRIF Correction See all (62)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Spinal muscular atrophy, distal, X-linked 3

MIM: 300489

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Products	Interactant	Other Gene	Source	Pubs	Description
Q04656	O00244	ATOX1	HPRD	PubMed
Q04656	P00450	CP	HPRD	PubMed
Q04656	Q5EBL8	PDZD11	HPRD	PubMed
BioGRID:107020	BioGRID:106965	ATOX1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107020	BioGRID:109007	GLRX	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107020	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
ATP binding	TAS Traceable Author Statement more info	PubMed
copper ion binding	IDA Inferred from Direct Assay more info	PubMed
copper ion binding	IEA Inferred from Electronic Annotation more info
copper ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
copper-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
copper-exporting ATPase activity	ISS Inferred from Sequence or Structural Similarity more info
copper-transporting ATPase activity	IEA Inferred from Electronic Annotation more info
hydrolase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
superoxide dismutase copper chaperone activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
ATP biosynthetic process	IEA Inferred from Electronic Annotation more info
ATP catabolic process	IEA Inferred from Electronic Annotation more info
ATP metabolic process	IEA Inferred from Electronic Annotation more info
T-helper cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
blood vessel development	ISS Inferred from Sequence or Structural Similarity more info
blood vessel remodeling	ISS Inferred from Sequence or Structural Similarity more info
cartilage development	ISS Inferred from Sequence or Structural Similarity more info
catecholamine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
cell death	IEA Inferred from Electronic Annotation more info
cellular copper ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
central nervous system neuron development	ISS Inferred from Sequence or Structural Similarity more info
cerebellar Purkinje cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
collagen fibril organization	ISS Inferred from Sequence or Structural Similarity more info
copper ion export	ISS Inferred from Sequence or Structural Similarity more info
copper ion import	ISS Inferred from Sequence or Structural Similarity more info
copper ion transport	IEA Inferred from Electronic Annotation more info
copper ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
dendrite morphogenesis	IEA Inferred from Electronic Annotation more info
detoxification of copper ion	ISS Inferred from Sequence or Structural Similarity more info
dopamine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
elastic fiber assembly	ISS Inferred from Sequence or Structural Similarity more info
elastin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
epinephrine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
extracellular matrix organization	ISS Inferred from Sequence or Structural Similarity more info
hair follicle morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
hindlimb morphogenesis	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
ion transmembrane transport	TAS Traceable Author Statement more info
locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
lung alveolus development	ISS Inferred from Sequence or Structural Similarity more info
metal ion transport	IEA Inferred from Electronic Annotation more info
mitochondrion organization	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of metalloenzyme activity	ISS Inferred from Sequence or Structural Similarity more info
neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
neuroprotection	ISS Inferred from Sequence or Structural Similarity more info
norepinephrine biosynthetic process	IEA Inferred from Electronic Annotation more info
norepinephrine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
peptidyl-lysine modification	ISS Inferred from Sequence or Structural Similarity more info
pigmentation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of catalytic activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of metalloenzyme activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
pyramidal neuron development	ISS Inferred from Sequence or Structural Similarity more info
regulation of gene expression	IEA Inferred from Electronic Annotation more info
regulation of oxidative phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
release of cytochrome c from mitochondria	IEA Inferred from Electronic Annotation more info
removal of superoxide radicals	ISS Inferred from Sequence or Structural Similarity more info
response to iron(III) ion	IEA Inferred from Electronic Annotation more info
response to zinc ion	IEA Inferred from Electronic Annotation more info
serotonin metabolic process	ISS Inferred from Sequence or Structural Similarity more info
skin development	ISS Inferred from Sequence or Structural Similarity more info
transmembrane transport	TAS Traceable Author Statement more info
tryptophan metabolic process	ISS Inferred from Sequence or Structural Similarity more info
tyrosine metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
brush border membrane	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
cytosol	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
integral to membrane of membrane fraction	IEA Inferred from Electronic Annotation more info
late endosome	IDA Inferred from Direct Assay more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
neuron projection	ISS Inferred from Sequence or Structural Similarity more info
neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
secretory granule	IEA Inferred from Electronic Annotation more info
trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
trans-Golgi network transport vesicle	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

Preferred Names: copper-transporting ATPase 1

Names: copper-transporting ATPase 1; copper pump 1; Cu++-transporting P-type ATPase; Menkes disease-associated protein

NP_000043.3

EC 3.6.3.4

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013224.1 RefSeqGene

Range

5001..144699

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000052.5 → NP_000043.3 copper-transporting ATPase 1

Status: REVIEWED

Source sequence(s)

AB117973, AK299449, AL645821, BU753163, DB164588, L06133

Consensus CDS

CCDS35339.1

UniProtKB/TrEMBL

B4DRW0

UniProtKB/Swiss-Prot

Q04656

UniProtKB/TrEMBL

Q762B6

Related

ENSP00000345728, OTTHUMP00000023593, ENST00000341514, OTTHUMT00000057306

Conserved Domains (4) summary

cd00371
Location:380 – 443
Blast Score: 188

HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...

TIGR01511
Location:727 – 1389
Blast Score: 1986

ATPase-IB1_Cu; copper-(or silver)-translocating P-type ATPase

pfam00122
Location:786 – 1033
Blast Score: 534

E1-E2_ATPase; E1-E2 ATPase

cl11391
Location:1224 – 1343
Blast Score: 131

HAD_like; Haloacid Dehalogenase-like Hydrolases

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p5 Primary Assembly

Range

77166194..77305892

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

70752187..70892316

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL356235.22 (38064..69096)	None
genomic	AL645821.2 (1999..80981)	None
genomic	AL772330.3 (2000..31678)	None
genomic	AY011418.1	AAG47452.1
genomic	CH471104.2	EAW98605.1
		EAW98606.1
genomic	HC679684.1	CBL93959.1
genomic	U27360.1	None
genomic	U27381.1	AAA96010.1
genomic	X82336.1	CAB94714.1
genomic	Z94753.1	CAB08160.1
genomic	Z94801.1	CAB08162.2
mRNA	AB117973.1	BAC82353.1
mRNA	AB208828.1	BAD92065.1
mRNA	AK299449.1	BAG61422.1
mRNA	BP364137.1	None
mRNA	BU753163.1	None
mRNA	BX503903.1	None
mRNA	CD299174.1	None
mRNA	DB164588.1	None
mRNA	L06133.1	AAA35580.1
mRNA	L06476.1	AAA16974.1
other-genetic	BC156437.1	AAI56438.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q04656.3	GenPept	UniProtKB/Swiss-Prot:Q04656
Q59HD1	GenPept	UniProtKB/TrEMBL:Q59HD1
Q762B6	GenPept	UniProtKB/TrEMBL:Q762B6