Gene: ATP7A ENSG00000269395

Description

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

Gene Synonyms

DSMAX, MC1, MK, MNK, SMAX3

Location

GRCh37:JH720454.3

View this gene on the primary assembly.

About this gene

This gene has 3 transcripts (splice variants), 1 gene allele and is associated with 8 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	RefSeq	Flags
ENST00000594103.1	ATP7A-001	8483	1500aa	ENSP00000470870.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	B4DRW0	-	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000596158.1	ATP7A-203	8254	1422aa	ENSP00000469649.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	B4DRW0	NM_001282224.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000597166.1	ATP7A-204	5497	503aa	ENSP00000472236.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	-	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

EMBL-EBI User Survey 2024