Atp7b ATPase, copper transporting, beta polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp7bprovided by MGI
Official Full Name: ATPase, copper transporting, beta polypeptideprovided by MGI
Primary source: MGI:MGI:103297
See related: Ensembl:ENSMUSG00000006567 AllianceGenome:MGI:103297
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: tx; WND; Atp7a
Summary: Enables P-type divalent copper transporter activity. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; lactation; and protein maturation by copper ion transfer. Located in membrane and trans-Golgi network. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study Wilson disease. Human ortholog(s) of this gene implicated in Wilson disease. Orthologous to human ATP7B (ATPase copper transporting beta). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in placenta adult (RPKM 9.8), lung adult (RPKM 9.6) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A2; 8 10.78 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (22482799..22550347, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (21992783..22060074, complement)

Chromosome 8 - NC_000074.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain.
Title: Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain.
Systemic deletion of Atp7b modifies the hepatocytes' response to copper overload in the mouse models of Wilson disease.
Title: Systemic deletion of Atp7b modifies the hepatocytes' response to copper overload in the mouse models of Wilson disease.
Copper Sulfide Facilitates Hepatobiliary Clearance of Gold Nanoparticles through the Copper-Transporting ATPase ATP7B.
Title: Copper Sulfide Facilitates Hepatobiliary Clearance of Gold Nanoparticles through the Copper-Transporting ATPase ATP7B.
Atp7b (-/-) mice showed blunted body-weight gain over time, had lower fat mass, and were more glucose tolerant than wild type (WT) littermate controls.
Title: Metabolic dysregulation in the Atp7b(-/-) Wilson's disease mouse model.
our study demonstrated that adeno-associated virus gene therapy based on truncated ATP7B is a promising strategy in the treatment of Wilson's disease
Title: Long-Term Correction of Copper Metabolism in Wilson's Disease Mice with AAV8 Vector Delivering Truncated ATP7B.
Duodenal iron content was also lower in Atp7b((-/-)) mice, but did not reach statistical significance. The results of our study suggest that metallothionein is elevated in the liver and duodenum of Atp7b((-/-)) mice.
Title: Metallothionein is elevated in liver and duodenum of Atp7b((-/-)) mice.
the copper transporter ATP7A is necessary for the activity of LOX and LOXL enzymes. Silencing of ATP7A inhibited LOX activity in the 4T1 mammary carcinoma cell line.
Title: ATP7A delivers copper to the lysyl oxidase family of enzymes and promotes tumorigenesis and metastasis.
DBH-containing neurons express both ATP7A and ATP7B. The two transporters are located in distinct cellular compartments and oppositely regulate the export of soluble DBH from cultured neuronal cells under resting conditions.
Title: ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase.
Copper homeostasis in the testes is closely controlled by copper-transporting ATPases ATP7A and ATP7B proteins.
Title: Atp7a and Atp7b regulate copper homeostasis in developing male germ cells in mice.
This study showed that knockout of Atp7b led to altered lipid metabolism and liver steatosis in the absence of inflammation.
Title: Targeted inactivation of copper transporter Atp7b in hepatocytes causes liver steatosis and obesity in mice.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (5)
Spontaneous (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Atp7b (e-PCR), detects polymorphism
- UniSTS:527264

Gene Ontology Provided by MGI

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	IDA Inferred from Direct Assay more info	PubMed
enables P-type divalent copper transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables P-type divalent copper transporter activity	ISO Inferred from Sequence Orthology more info
enables P-type monovalent copper transporter activity	IEA Inferred from Electronic Annotation 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 binding	ISS Inferred from Sequence or Structural Similarity more info
enables copper ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellular response to copper ion	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	ISO Inferred from Sequence Orthology more info
involved_in copper ion import	IBA Inferred from Biological aspect of Ancestor more info
involved_in copper ion import	IEA Inferred from Electronic Annotation more info
involved_in copper ion import	ISO Inferred from Sequence Orthology more info
involved_in copper ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within copper ion transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within copper ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in copper ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype 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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular zinc ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lactation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein maturation by copper ion transfer	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to copper ion	IEA Inferred from Electronic Annotation more info
involved_in response to copper ion	ISO Inferred from Sequence Orthology more info
involved_in sequestering of calcium ion	IEA Inferred from Electronic Annotation more info
involved_in sequestering of calcium ion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in apical part of cell	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in bicellular tight junction	ISO Inferred from Sequence Orthology more info
colocalizes_with cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in late endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
colocalizes_with perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
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 tight junction	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with trans-Golgi network	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network membrane	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: copper-transporting ATPase 2

Names: ATPase, Cu++ transporting, beta polypeptide; Wilson protein; copper pump 2; toxic milk; wilson disease-associated protein homolog

NP_001390638.1

EC 7.2.2.8

NP_031537.2

EC 7.2.2.8

XP_011240421.1

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_001403709.1 → NP_001390638.1 copper-transporting ATPase 2 isoform 1

Status: VALIDATED

Source sequence(s)

AC163439, AL590619
NM_007511.3 → NP_031537.2 copper-transporting ATPase 2 isoform 2

Status: VALIDATED

Source sequence(s)

AC163439, AL590619

Consensus CDS

CCDS22168.1

UniProtKB/Swiss-Prot

B1AQ56, Q64446

UniProtKB/TrEMBL

B1AQ57

Related

ENSMUSP00000006742.5, ENSMUST00000006742.11

Conserved Domains (4) summary

COG2217
Location:568 → 1352

ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]

COG4087
Location:1187 → 1306

COG4087; Soluble P-type ATPase [General function prediction only]

cd00371
Location:156 → 219

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 ...

pfam00122
Location:771 → 1018

E1-E2_ATPase; E1-E2 ATPase

RNA

NR_175403.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC163439, AL590619

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

22482799..22550347 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011242119.4 → XP_011240421.1 copper-transporting ATPase 2 isoform X2

Conserved Domains (2) summary

cd00371
Location:205 → 268

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 ...

cl21460
Location:703 → 995

HAD_like; Haloacid Dehalogenase-like Hydrolases