Atp7b ATPase copper transporting beta [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Atp7bprovided by RGD
Official Full Name: ATPase copper transporting betaprovided by RGD
Primary source: RGD:2180
See related: Ensembl:ENSRNOG00000012878 AllianceGenome:RGD:2180
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Wd; Hts; PINA
Summary: Enables copper ion binding activity; copper ion transmembrane transporter activity; and zinc ion binding activity. Involved in several processes, including cellular response to metal ion; copper ion export; and lactation. Located in several cellular components, including basolateral plasma membrane; bicellular tight junction; and trans-Golgi network. Used to study Wilson disease; hepatitis; hepatocellular carcinoma; liver carcinoma; and renal adenoma. Human ortholog(s) of this gene implicated in Wilson disease. Orthologous to human ATP7B (ATPase copper transporting beta). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Liver (RPKM 108.1), Spleen (RPKM 39.3) and 4 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 16q12.5

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	16	NC_086034.1 (76654725..76726092)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	16	NC_051351.1 (69952286..70024404)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	16	NC_005115.4 (74865516..74944935)

Chromosome 16 - NC_086034.1 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?

Data indicate dileucine-dependent binding of the C-terminal tail of copper transporter ATP7B to sigma1 subunit of the clathrin adaptor AP-1.
Title: Polarized sorting of the copper transporter ATP7B in neurons mediated by recognition of a dileucine signal by AP-1.
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.
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.
Immunofluorescent studies in frozen sections of human and rat skin utilizing a Wilson protein antibody demonstrated abundant expression of the Wilson protein in the secretory and ductular epithelial cells of the sweat glands both in human and rat.
Title: Wilson protein expression, copper excretion and sweat production in sweat glands of Wilson disease patients and controls.
study concludes that liver ischemia and ischemia-reperfusion induction and trafficking Atp7b to the bile duct canaliculi may contribute to preferential iron transport into bile
Title: Liver ischemia and ischemia-reperfusion induces and trafficks the multi-specific metal transporter Atp7b to bile duct canaliculi: possible preferential transport of iron into bile.
we crossed LEC rats with PVG rats that are wildtype for PINA, NAT and coat color, and obtained rats that are defective only in PINA/Atp7b locus (termed LPP rats) and normal for NAT activity and coat color.
Title: A new strain of rat for functional analysis of PINA.
akr1b7 might be up-regulated by oxidative stress mediated through NF-kappaB, but not that mediated directly by copper.
Title: Aldo-keto reductase 1 family B7 is the gene induced in response to oxidative stress in the livers of Long-Evans Cinnamon rats.

Submit: New GeneRIF Correction

General gene information

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Markers

RH94694 (e-PCR)
- UniSTS:119941

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

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled monoatomic cation transmembrane transporter 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	IEA Inferred from Electronic Annotation more info
enables P-type divalent copper transporter activity	ISO Inferred from Sequence Orthology more info
enables P-type divalent copper transporter activity	ISS Inferred from Sequence or Structural Similarity 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	IDA Inferred from Direct Assay more info	PubMed
enables copper ion binding	IEA Inferred from Electronic Annotation more info
enables copper ion binding	ISO Inferred from Sequence Orthology more info
enables copper ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables copper ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to copper ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to copper ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to manganese ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in circadian rhythm	IEP Inferred from Expression Pattern more info	PubMed
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
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	ISO Inferred from Sequence Orthology more info
involved_in copper ion transport	ISO Inferred from Sequence Orthology more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within establishment of localization in cell	ISO Inferred from Sequence Orthology more info
involved_in intracellular copper ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular copper ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular copper ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular zinc ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular zinc ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in lactation	IEA Inferred from Electronic Annotation more info
involved_in lactation	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within lactation	ISO Inferred from Sequence Orthology more info
involved_in protein maturation by copper ion transfer	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein maturation by copper ion transfer	ISO Inferred from Sequence Orthology more info
involved_in response to cAMP	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to copper ion	IEA Inferred from Electronic Annotation more info
involved_in response to copper ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to copper ion	ISO Inferred from Sequence Orthology more info
involved_in response to prolactin	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to zinc ion	IEP Inferred from Expression Pattern more info	PubMed
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	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	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	IEA Inferred from Electronic Annotation more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation 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	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	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network membrane	IEA Inferred from Electronic Annotation 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 (same as Wilson disease); PINA gene, promoter; copper pump 2; pineal night-specific ATPase; wilson disease-associated protein homolog

NP_036643.2

EC 7.2.2.8

XP_017455480.1

EC 7.2.2.8

XP_038950119.1

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_012511.2 → NP_036643.2 copper-transporting ATPase 2

See identical proteins and their annotated locations for NP_036643.2

Status: VALIDATED

Source sequence(s)

AB017792, JAXUCZ010000016

UniProtKB/Swiss-Prot

Q63676, Q64535, Q9JLY3

UniProtKB/TrEMBL

Q9QUG4

Related

ENSRNOP00000094594.1, ENSRNOT00000109904.1

Conserved Domains (4) summary

COG2217
Location:558 → 1342

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

COG4087
Location:1177 → 1296

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

cd00371
Location:144 → 207

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:761 → 1008

E1-E2_ATPase; E1-E2 ATPase

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_086034.1 Reference GRCr8

Range

76654725..76726092

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017599991.3 → XP_017455480.1 copper-transporting ATPase 2 isoform X1

UniProtKB/TrEMBL

A0A0G2JWJ5, F7FE99

Related

ENSRNOP00000069905.1

Conserved Domains (4) summary

COG2217
Location:619 → 1403

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

COG4087
Location:1238 → 1357

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

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 ...

pfam00122
Location:822 → 1069

E1-E2_ATPase; E1-E2 ATPase
XM_039094191.2 → XP_038950119.1 copper-transporting ATPase 2 isoform X2

Conserved Domains (1) summary

cd02094
Location:3 → 685

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