Atp7a ATPase copper transporting alpha [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Atp7aprovided by RGD
Official Full Name: ATPase copper transporting alphaprovided by RGD
Primary source: RGD:2179
See related: EnsemblRapid:ENSRNOG00000061367 AllianceGenome:RGD:2179
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Mnk
Summary: This gene encodes a transmembrane protein that functions in copper transport across membranes. The protein localizes to the trans-Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. The protein relocalizes to the plasma membrane under conditions of elevated extracellular copper and functions in the efflux of copper from cells. In human, mutations in this gene result in Menkes disease, X-linked cutis laxa, and occipital horn syndrome. [provided by RefSeq, Nov 2009]
Expression: Biased expression in Lung (RPKM 139.0), Spleen (RPKM 102.0) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: Xq22

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (75159635..75267094)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (71094144..71201550)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (77076085..77193644)

Chromosome X - NC_086039.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In cultured rat aortic SMCs, PDGF stimulation rapidly promoted ATP7A association with IQGAP1 and Rac1 and their translocation to the lipid rafts and leading edge. Cotransfection assay revealed that ATP7A directly bound to NH2-terminal domain of IQGAP1
Title: Copper transporter ATP7A interacts with IQGAP1, a Rac1 binding scaffolding protein: role in PDGF-induced VSMC migration and vascular remodeling.
CTR1 and ATP7A play important roles in Cu transport in choroidal epithelial cells, and the Pb-induced intracellular Cu accumulation appears to be mediated, at least in part, via the alteration of CTR1 and ATP7A expression levels following Pb exposure.
Title: Involvement of CTR1 and ATP7A in lead (Pb)-induced copper (Cu) accumulation in choroidal epithelial cells.
Atp7a knockdown in IEC-6 cells enhanced transepithelial iron flux via a novel molecular mechanism involving transcriptional induction of Fpn1 gene expression.
Title: Silencing the Menkes copper-transporting ATPase (Atp7a) gene in rat intestinal epithelial (IEC-6) cells increases iron flux via transcriptional induction of ferroportin 1 (Fpn1).
This investigation has thus revealed a novel aspect of Atp7a gene regulation in which Sp1 may be necessary for the HIF-mediated induction of gene transcription during iron deficiency/hypoxia.
Title: Transcription factors Sp1 and Hif2α mediate induction of the copper-transporting ATPase (Atp7a) gene in intestinal epithelial cells during hypoxia.
Iron chelation with copper loading increased Atp7a mRNA and protein levels.
Title: Copper stabilizes the Menkes copper-transporting ATPase (Atp7a) protein expressed in rat intestinal epithelial cells.
Multiple Atp7a transcript and protein variants exist in rodent intestinal epithelial cells and are induced by dietary iron deprivation.
Title: Multiple Menkes copper ATPase (Atp7a) transcript and protein variants are induced by iron deficiency in rat duodenal enterocytes.
these results suggest that Ctr1, DMT1, ATOX1 and ATP7A contribute to Cu transport at the blood-CSF barrier
Title: Mechanism of copper transport at the blood-cerebrospinal fluid barrier: influence of iron deficiency in an in vitro model.
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.
Data show that the Atp7a gene is upregulated by direct interaction with HIF2alpha, demonstrating coordinate regulation with genes related to intestinal iron homeostasis.
Title: Transcriptional regulation of the Menkes copper ATPase (Atp7a) gene by hypoxia-inducible factor (HIF2{alpha}) in intestinal epithelial cells.
Adult rat DRG tissue exhibits a specific pattern of expression of copper transporters with distinct subsets of peripheral sensory neurons intensely expressing either ATP7A or CTR1, but not both or ATP7B.
Title: Differential expression of ATP7A, ATP7B and CTR1 in adult rat dorsal root ganglion tissue.

Submit: New GeneRIF Correction See all GeneRIFs (16)

General gene information

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Markers

GDB:435283 (e-PCR)
- UniSTS:157220

Atp7a (e-PCR), detects polymorphism
- UniSTS:141141

DXWox23 (e-PCR)
- UniSTS:517848

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables P-type divalent copper transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables P-type divalent copper transporter activity	ISO Inferred from Sequence Orthology more info
enables P-type monovalent copper transporter activity	ISO Inferred from Sequence Orthology more info
enables P-type monovalent copper transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables copper ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables copper ion binding	ISO Inferred from Sequence Orthology more info
enables copper ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables copper-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables copper-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables cuprous ion binding	ISO Inferred from Sequence Orthology more info
enables cuprous ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables superoxide dismutase copper chaperone activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within ATP metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within T-helper cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood vessel development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood vessel remodeling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cartilage development	ISO Inferred from Sequence Orthology more info
acts_upstream_of catecholamine metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within catecholamine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in cellular response to amino acid stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to antibiotic	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to cadmium ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to cobalt ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to copper ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to copper ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to iron ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to lead ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to platelet-derived growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within central nervous system neuron development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebellar Purkinje cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within collagen fibril organization	ISO Inferred from Sequence Orthology more info
involved_in copper ion export	IBA Inferred from Biological aspect of Ancestor more info
involved_in copper ion export	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within copper ion export	ISO Inferred from Sequence Orthology more info
involved_in copper ion export	ISO Inferred from Sequence Orthology more info
involved_in copper ion export	ISS Inferred from Sequence or Structural Similarity more info
involved_in copper ion import	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within copper ion import	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within copper ion transport	ISO Inferred from Sequence Orthology more info
involved_in copper ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within detoxification of copper ion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dopamine metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within elastic fiber assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within elastin biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within epinephrine metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of localization in cell	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within extracellular matrix organization	ISO Inferred from Sequence Orthology more info
involved_in female pregnancy	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within hair follicle morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hindlimb morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in in utero embryonic development	IEP Inferred from Expression Pattern more info	PubMed
involved_in intracellular copper ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular copper ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular copper ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular copper ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in lactation	IEP Inferred from Expression Pattern more info	PubMed
involved_in liver development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within locomotory behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lung alveolus development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitochondrion organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of catecholamine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of iron ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron cellular homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron projection morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within norepinephrine biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within norepinephrine metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within peptidyl-lysine modification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pigmentation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of catalytic activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell size	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cytochrome-c oxidase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of melanin biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of melanin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of response to wounding	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of superoxide dismutase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tyrosinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tyrosinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vascular associated smooth muscle cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pyramidal neuron development	ISO Inferred from Sequence Orthology more info
involved_in regulation of cytochrome-c oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of oxidative phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within release of cytochrome c from mitochondria	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within removal of superoxide radicals	ISO Inferred from Sequence Orthology more info
involved_in response to copper ion	IDA Inferred from Direct Assay more info	PubMed
involved_in response to copper ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to iron(III) ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to lead ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to manganese ion	IDA Inferred from Direct Assay more info	PubMed
involved_in response to manganese ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to zinc ion	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within serotonin metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skin development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within tryptophan metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within tyrosine metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell leading edge	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in melanosome membrane	ISO Inferred from Sequence Orthology more info
located_in melanosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in secretory granule	IDA Inferred from Direct Assay more info	PubMed
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network membrane	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network membrane	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network transport vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: copper-transporting ATPase 1

Names: ATPase, Cu++ transporting, alpha polypeptide; copper pump 1; menkes disease-associated protein homolog

NP_434690.1

EC 7.2.2.8

XP_006257057.1

EC 7.2.2.8

XP_006257059.1

EC 7.2.2.8

XP_038955414.1

EC 7.2.2.8

XP_038955415.1

EC 7.2.2.8

XP_063135876.1

EC 7.2.2.8

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_052803.2 → NP_434690.1 copper-transporting ATPase 1

See identical proteins and their annotated locations for NP_434690.1

Status: PROVISIONAL

Source sequence(s)

U59245

UniProtKB/Swiss-Prot

P70705

UniProtKB/TrEMBL

A6IV40

Related

ENSRNOP00000071625.2, ENSRNOT00000080141.3

Conserved Domains (2) summary

cd00371
Location:11 → 73

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 ...

cd02094
Location:646 → 1380

P-type_ATPase_Cu-like; P-type heavy metal-transporting ATPase, similar to human copper-transporting ATPases, ATP7A and ATP7B

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086039.1 Reference GRCr8

Range

75159635..75267094

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039099486.2 → XP_038955414.1 copper-transporting ATPase 1 isoform X1

UniProtKB/Swiss-Prot

P70705

UniProtKB/TrEMBL

A6IV40

Related

ENSRNOP00000101535.1, ENSRNOT00000086595.3

Conserved Domains (2) summary

cd00371
Location:11 → 73

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 ...

cd02094
Location:646 → 1380

P-type_ATPase_Cu-like; P-type heavy metal-transporting ATPase, similar to human copper-transporting ATPases, ATP7A and ATP7B
XM_063279806.1 → XP_063135876.1 copper-transporting ATPase 1 isoform X2
XM_006256995.5 → XP_006257057.1 copper-transporting ATPase 1 isoform X1

See identical proteins and their annotated locations for XP_006257057.1

UniProtKB/Swiss-Prot

P70705

UniProtKB/TrEMBL

A6IV40

Conserved Domains (2) summary

cd00371
Location:11 → 73

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 ...

cd02094
Location:646 → 1380

P-type_ATPase_Cu-like; P-type heavy metal-transporting ATPase, similar to human copper-transporting ATPases, ATP7A and ATP7B
XM_006256997.5 → XP_006257059.1 copper-transporting ATPase 1 isoform X2

Conserved Domains (4) summary

cd00371
Location:11 → 73

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:718 → 1380

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

pfam00122
Location:777 → 1024

E1-E2_ATPase; E1-E2 ATPase

cl21460
Location:1189 → 1332

HAD_like; Haloacid Dehalogenase-like Hydrolases
XM_039099487.2 → XP_038955415.1 copper-transporting ATPase 1 isoform X3

Conserved Domains (2) summary

cd00371
Location:312 → 374

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 ...

cd02094
Location:578 → 1312

P-type_ATPase_Cu-like; P-type heavy metal-transporting ATPase, similar to human copper-transporting ATPases, ATP7A and ATP7B