ATP7B

GENE INFORMATION

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Gene name

ATP7B (HGNC Symbol)

Synonyms

WND

Description

ATPase, Cu++ transporting, beta polypeptide (HGNC Symbol)

Entrez gene 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 functions as a monomer, exporting 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 (WD). [provided by RefSeq, Jul 2008]

Chromosome

13 (Chromosome progress)

Cytoband

q14.3

Chromosome location (bp)

52506809 - 52585630

Ensembl

ENSG00000123191 (version 73.37)

Entrez gene

540

UniProt

P35670 (UniProt - Evidence at protein level)

neXtProt

NX_P35670

Antibodypedia

ATP7B antibodies
 

PROTEIN VIEW

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ATP7B-002
 
ATP7B-201
 
ATP7B-202
 
ATP7B-203
 
ATP7B-204
 
ATP7B-205
 
ATP7B-206
 
ATP7B-207
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATP7B-002 ENSP00000242839
ENST00000242839
P35670
Show all »
Show » Show » 1465 157.3 No 8
ATP7B-201 ENSP00000342559
ENST00000344297
P35670
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Show » Show » 1258 133.6 No 5
ATP7B-202 ENSP00000383217
ENST00000400366
P35670
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Show » Show » 1354 145.8 No 9
ATP7B-203 ENSP00000383221
ENST00000400370
F5H562
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Show » Show » 1035 110.3 No 4
ATP7B-204 ENSP00000390360
ENST00000417240
E7EQQ2
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Show » Show » 676 72.3 No 6
ATP7B-205 ENSP00000393343
ENST00000418097
F5H748
Show all »
Show » Show » 1400 150.5 No 7
ATP7B-206 ENSP00000416738
ENST00000448424
E7ET55
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Show » Show » 1387 148.4 No 7
ATP7B-207 ENSP00000443128
ENST00000542656
F6XIH0
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Show » 528 56.1 No 0