ATP7A

GENE INFORMATION

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Gene name

ATP7A (HGNC Symbol)

Synonyms

MNK

Description

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

Entrez gene summary

This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]

Chromosome

X (Chromosome progress)

Cytoband

q21.1

Chromosome location (bp)

77166194 - 77305892

Ensembl

ENSG00000165240 (version 73.37)

Entrez gene

538

UniProt

Q04656 (UniProt - Evidence at protein level)

neXtProt

NX_Q04656

Antibodypedia

ATP7A antibodies
 

PROTEIN VIEW

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ATP7A-001
 
ATP7A-201
 
ATP7A-202
 
 
 
 
 

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)

ATP7A-001 ENSP00000345728
ENST00000341514
Q04656
Show all »
Show » Show » 1500 163.4 No 8
ATP7A-201 ENSP00000343026
ENST00000343533
Q04656
Show all »
Show » Show » 1422 154.4 No 6
ATP7A-202 ENSP00000343678
ENST00000350425
Q04656
Show all »
Show » Show » 503 54.3 No 2