ATP7A

GENERAL INFORMATION

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Gene name

ATP7A

Gene description

ATPase, Cu++ transporting, alpha polypeptide

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

Intracellular,Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic and occasional nuclear expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA012887
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Hippocampus

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



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

Cytoband

q21.1

Chromosome location (bp)

77910656 - 78050395

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000165240 (version 78.38)

Entrez gene

538

UniProt

Q04656 (UniProt - Evidence at protein level)

neXtProt

NX_Q04656

Antibodypedia

ATP7A antibodies


PROTEIN BROWSER

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ENST00000341514
 
ENST00000343533
 
ENST00000350425
 
 
 
 


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 » 274 30.1 No 0