Gene: ATP6V1A ENSG00000114573

Description

ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A [Source:HGNC Symbol;Acc:851]

Gene Synonyms

ATP6A1, ATP6V1A1, HO68, VA68, VPP2, Vma1

Location

Chromosome 3: 113,465,866-113,530,903 forward strand.

GRCh37:CM000665.1

About this gene

This gene has 7 transcripts (splice variants) and is associated with 6 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000273398.3	ATP6V1A-001	4591	617aa	ENSP00000273398.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2976	B7Z1R5 B7Z2V6 C9JA17 C9JVW8 P38606	NM_001690.3	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,
ENST00000538620.1	ATP6V1A-201	2266	584aa	ENSP00000439874.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z1R5 B7Z2V6 C9JA17	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000475322.1	ATP6V1A-005	754	221aa	ENSP00000419294.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JA17 C9JVW8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000496747.1	ATP6V1A-006	710	184aa	ENSP00000417545.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JA17	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000470455.1	ATP6V1A-002	2266	49aa	ENSP00000420146.1	Nonsense mediated decay		F8WDJ3	-	-
ENST00000461496.1	ATP6V1A-007	542	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000462855.1	ATP6V1A-004	509	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

EMBL-EBI User Survey 2024

Gene: ATP6V1A ENSG00000114573

Summary

EMBL-EBI User Survey 2024

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Gene: ATP6V1A ENSG00000114573

Summary