ATP7B ATPase copper transporting beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP7Bprovided by HGNC
Official Full Name: ATPase copper transporting betaprovided by HGNC
Primary source: HGNC:HGNC:870
See related: Ensembl:ENSG00000123191 MIM:606882
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: WD; PWD; WC1; WND
Summary: This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
Expression: Broad expression in testis (RPKM 5.6), duodenum (RPKM 4.2) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.3

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	13	NC_000013.11 (51932669..52012130, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (52506805..52586181, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Title: Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
[Mutational analysis of ATP7B gene of hepatolenticular degeneration in Xinjiang region].
Title: [Mutational analysis of ATP7B gene of hepatolenticular degeneration in Xinjiang region].
Activation of HIF-1 signaling ameliorates liver steatosis in zebrafish atp7b deficiency (Wilson's disease) models.
Title: Activation of HIF-1 signaling ameliorates liver steatosis in zebrafish atp7b deficiency (Wilson's disease) models.
[Phenotype and genotype analysis of 55 children patients with Wilson's disease].
Title: [Phenotype and genotype analysis of 55 children patients with Wilson's disease].
[Screening for carriers of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao].
Title: [Screening for carriers of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao].
[Synonymous variants of the ATP7B gene may cause abnormal splicing of mRNA by affecting the exonic splicing enhancers].
Title: [Synonymous variants of the ATP7B gene may cause abnormal splicing of mRNA by affecting the exonic splicing enhancers].
A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using nextgeneration sequencing and Sanger sequencing.
Title: A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing.
Biochemical regulation and structural analysis of copper-transporting ATPase in a human hepatoma cell line for Wilson disease.
Title: Biochemical regulation and structural analysis of copper-transporting ATPase in a human hepatoma cell line for Wilson disease.
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.
Title: ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.
Clinical features and mutational analysis of ATP7B gene in young children with Wilson disease from South China have been reported.
Title: Clinical features and mutational analysis in 114 young children with Wilson disease from South China.

Submit: New GeneRIF Correction See all GeneRIFs (254)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Wilson disease MedGen: C0019202 OMIM: 277900 GeneReviews: Wilson Disease	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S1101 (e-PCR)
- UniSTS:34061

SHGC-79066 (e-PCR)
- UniSTS:100913

GDB:532997 (e-PCR)
- UniSTS:157560

GDB:533003 (e-PCR)
- UniSTS:157561

GDB:533006 (e-PCR)
- UniSTS:157562

SHGC-146451 (e-PCR)
- UniSTS:175226

GDB:533013 (e-PCR)
- UniSTS:157564

GDB:533021 (e-PCR)
- UniSTS:157566

GDB:533046 (e-PCR)
- UniSTS:157567

GDB:533050 (e-PCR)
- UniSTS:157568

GDB:533057 (e-PCR)
- UniSTS:157569

GDB:542970 (e-PCR)
- UniSTS:157574

GDB:542978 (e-PCR)
- UniSTS:157576

RH98917 (e-PCR)
- UniSTS:83850

GDB:542982 (e-PCR)
- UniSTS:157578

GDB:547725 (e-PCR)
- UniSTS:157590

GDB:547728 (e-PCR)
- UniSTS:157591

GDB:547732 (e-PCR)
- UniSTS:157592

GDB:547739 (e-PCR)
- UniSTS:157593

GDB:547748 (e-PCR)
- UniSTS:157594

GDB:547753 (e-PCR)
- UniSTS:157595

GDB:547758 (e-PCR)
- UniSTS:157596

GDB:547771 (e-PCR)
- UniSTS:157597

SHGC-8883 (e-PCR)
- UniSTS:3271

RH123821 (e-PCR)
- UniSTS:136142

SHGC-147086 (e-PCR)
- UniSTS:175601

RH45092 (e-PCR)
- UniSTS:51187

Homology

Homologs of the ATP7B gene: The ATP7B gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 263 organisms have orthologs with human gene ATP7B
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IDA Inferred from Direct Assay more info	PubMed
copper ion binding	IDA Inferred from Direct Assay more info	PubMed
copper ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
copper transmembrane transporter activity, phosphorylative mechanism	IBA Inferred from Biological aspect of Ancestor more info	PubMed
copper transmembrane transporter activity, phosphorylative mechanism	IMP Inferred from Mutant Phenotype more info	PubMed
copper transmembrane transporter activity, phosphorylative mechanism	NAS Non-traceable Author Statement more info	PubMed
copper transmembrane transporter activity, phosphorylative mechanism	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cellular copper ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular copper ion homeostasis	TAS Traceable Author Statement more info	PubMed
copper ion export	IBA Inferred from Biological aspect of Ancestor more info	PubMed
copper ion import	IDA Inferred from Direct Assay more info	PubMed
copper ion transport	IDA Inferred from Direct Assay more info	PubMed
copper ion transport	IGI Inferred from Genetic Interaction more info	PubMed
copper ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
divalent inorganic cation transport	IEA Inferred from Electronic Annotation more info
ion transmembrane transport	TAS Traceable Author Statement more info
response to copper ion	IDA Inferred from Direct Assay more info	PubMed
sequestering of calcium ion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info
Golgi membrane	TAS Traceable Author Statement more info
colocalizes_with basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
integral component of plasma membrane	TAS Traceable Author Statement more info	PubMed
late endosome	IDA Inferred from Direct Assay more info	PubMed
membrane	HDA more info	PubMed
mitochondrion	IEA Inferred from Electronic Annotation more info
colocalizes_with perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
trans-Golgi network membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: copper-transporting ATPase 2

Names: ATPase, Cu(2+)- transporting, beta polypeptide; ATPase, Cu++ transporting, beta polypeptide; Wilson disease-associated protein; copper pump 2; copper-transporting protein ATP7B

NP_000044.2

EC 7.2.2.8

NP_001005918.1

EC 7.2.2.8

NP_001230111.1

EC 7.2.2.8

NP_001317507.1

EC 7.2.2.8

NP_001317508.1

EC 7.2.2.8

XP_005266480.1

EC 7.2.2.8

XP_005266481.1

EC 7.2.2.8

XP_005266487.1

EC 7.2.2.8

XP_005266488.1

EC 7.2.2.8

XP_006719900.1

EC 7.2.2.8

XP_011533419.1

EC 7.2.2.8

XP_016876116.1

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.

Genomic

NG_008806.1 RefSeqGene

Range

5045..83826

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000053.4 → NP_000044.2 copper-transporting ATPase 2 isoform a

See identical proteins and their annotated locations for NP_000044.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (a).

Source sequence(s)

AL162377, BC143976, BU682287, DA125470, U11700

Consensus CDS

CCDS41892.1

UniProtKB/Swiss-Prot

P35670

UniProtKB/TrEMBL

A0A024RDX3, B7ZLR4

Related

ENSP00000242839.4, ENST00000242839.9

Conserved Domains (4) summary

COG2217
Location:566 → 1355

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

COG4087
Location:1206 → 1309

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

cd00371
Location:363 → 425

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:769 → 1016

E1-E2_ATPase; E1-E2 ATPase
NM_001005918.3 → NP_001005918.1 copper-transporting ATPase 2 isoform b

See identical proteins and their annotated locations for NP_001005918.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (b) is shorter than isoform a.

Source sequence(s)

AL162377, BC143976, BU682287, DA125470

Consensus CDS

CCDS45049.1

UniProtKB/TrEMBL

B7ZLR4

Related

ENSP00000342559.5, ENST00000344297.9

Conserved Domains (4) summary

COG2217
Location:360 → 1148

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

COG4087
Location:999 → 1102

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

cd00371
Location:363 → 425

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:621 → 809

E1-E2_ATPase; E1-E2 ATPase
NM_001243182.2 → NP_001230111.1 copper-transporting ATPase 2 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame segment in the coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment, compared to isoform a.

Source sequence(s)

AL162377, BC143976, BU682287, DA125470, DQ015922

Consensus CDS

CCDS58293.1

UniProtKB/Swiss-Prot

P35670

UniProtKB/TrEMBL

B7ZLR4

Related

ENSP00000383217.3, ENST00000400366.6

Conserved Domains (4) summary

COG2217
Location:455 → 1244

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

COG4087
Location:1095 → 1198

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

cd00371
Location:146 → 209

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:658 → 905

E1-E2_ATPase; E1-E2 ATPase
NM_001330578.2 → NP_001317507.1 copper-transporting ATPase 2 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate exon in the central coding region but maintains the reading frame, compared to variant 1. The resulting isoform (d) is shorter than isoform a.

Source sequence(s)

AL162377, BC143975, BC143976, BU682287, DA125470, U11700

Consensus CDS

CCDS81768.1

UniProtKB/Swiss-Prot

P35670

UniProtKB/TrEMBL

B7ZLR3, B7ZLR4, E7ET55

Related

ENSP00000501168.1, ENST00000673772.1

Conserved Domains (4) summary

COG2217
Location:566 → 1277

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

COG4087
Location:1128 → 1231

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

cd00371
Location:363 → 425

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:694 → 938

E1-E2_ATPase; E1-E2 ATPase
NM_001330579.2 → NP_001317508.1 copper-transporting ATPase 2 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two consecutive alternate exons in the central coding region but maintains the reading frame, compared to variant 1. The resulting isoform (e) is shorter than isoform a.

Source sequence(s)

AL162377, BC143976, BU682287, DA125470, U11700

UniProtKB/Swiss-Prot

P35670

UniProtKB/TrEMBL

B7ZLR4

Related

ENSP00000416738.3, ENST00000448424.7

Conserved Domains (4) summary

COG4087
Location:1122 → 1225

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

cd00371
Location:363 → 425

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:626 → 1271

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

pfam00122
Location:685 → 932

E1-E2_ATPase; E1-E2 ATPase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p13 Primary Assembly

Range

51932669..52012130 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005266430.4 → XP_005266487.1 copper-transporting ATPase 2 isoform X1

See identical proteins and their annotated locations for XP_005266487.1

UniProtKB/Swiss-Prot

P35670

UniProtKB/TrEMBL

A0A024RDX3

Conserved Domains (4) summary

COG2217
Location:566 → 1355

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

COG4087
Location:1206 → 1309

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

cd00371
Location:363 → 425

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:769 → 1016

E1-E2_ATPase; E1-E2 ATPase
XM_011535117.3 → XP_011533419.1 copper-transporting ATPase 2 isoform X3

See identical proteins and their annotated locations for XP_011533419.1

Conserved Domains (4) summary

COG2217
Location:534 → 1323

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

COG4087
Location:1174 → 1277

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

cd00371
Location:331 → 393

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:737 → 984

E1-E2_ATPase; E1-E2 ATPase
XM_005266431.4 → XP_005266488.1 copper-transporting ATPase 2 isoform X2

Conserved Domains (4) summary

COG2217
Location:554 → 1343

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

COG4087
Location:1194 → 1297

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

cd00371
Location:351 → 413

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:757 → 1004

E1-E2_ATPase; E1-E2 ATPase
XM_006719837.3 → XP_006719900.1 copper-transporting ATPase 2 isoform X3

See identical proteins and their annotated locations for XP_006719900.1

Conserved Domains (4) summary

COG2217
Location:534 → 1323

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

COG4087
Location:1174 → 1277

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

cd00371
Location:331 → 393

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:737 → 984

E1-E2_ATPase; E1-E2 ATPase
XM_017020627.1 → XP_016876116.1 copper-transporting ATPase 2 isoform X3

Conserved Domains (4) summary

COG2217
Location:534 → 1323

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

COG4087
Location:1174 → 1277

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

cd00371
Location:331 → 393

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:737 → 984

E1-E2_ATPase; E1-E2 ATPase
XM_005266424.4 → XP_005266481.1 copper-transporting ATPase 2 isoform X3

See identical proteins and their annotated locations for XP_005266481.1

Conserved Domains (4) summary

COG2217
Location:534 → 1323

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

COG4087
Location:1174 → 1277

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

cd00371
Location:331 → 393

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:737 → 984

E1-E2_ATPase; E1-E2 ATPase
XM_005266423.2 → XP_005266480.1 copper-transporting ATPase 2 isoform X3

See identical proteins and their annotated locations for XP_005266480.1

Conserved Domains (4) summary

COG2217
Location:534 → 1323

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

COG4087
Location:1174 → 1277

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

cd00371
Location:331 → 393

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:737 → 984

E1-E2_ATPase; E1-E2 ATPase