Gene: ATP7A ENSG00000165240

Description

ATPase, Cu++ transporting, alpha polypeptide [Source:HGNC Symbol;Acc:869]

Gene Synonyms

DSMAX, MC1, MK, MNK, SMAX3

Location

GRCh37:CM000685.1

View alleles of this gene on alternative sequences

About this gene

This gene has 3 transcripts (splice variants), 1 gene allele, 1 paralogue and is associated with 12 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000341514.6	ATP7A-001	8483	1500aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS35339	Q04656	NM_000052.5	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000343533.5	ATP7A-201	8254	1422aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q04656	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000350425.4	ATP7A-202	5497	503aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q04656	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,

Summary

Name

ATP7A (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: Q04656

CCDS

This gene is a member of the Human CCDS set: CCDS35339.1

Ensembl version

ENSG00000165240.13

Other assemblies

There is no ungapped mapping of this gene onto the GRCh38 assembly.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000021885 (version 1)

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