Gene: ATP6V1E1 ENSG00000131100

Description

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 [Source:HGNC Symbol;Acc:857]

Gene Synonyms

ATP6E, ATP6E2, ATP6V1E, P31, Vma4

Location

Chromosome 22: 18,074,902-18,111,584 reverse strand.

GRCh37:CM000684.1

About this gene

This gene has 9 transcripts (splice variants), 1 paralogue and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000253413.5	ATP6V1E1-001	1402	226aa	ENSP00000253413.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13745	P36543 Q53Y06	NM_001696.3	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,
ENST00000399796.2	ATP6V1E1-006	1208	196aa	ENSP00000382694.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42978	P36543	NM_001039367.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000399798.2	ATP6V1E1-005	994	204aa	ENSP00000382696.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42977	P36543	NM_001039366.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000413576.1	ATP6V1E1-004	800	203aa	ENSP00000398932.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J8H1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000478963.1	ATP6V1E1-003	587	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000460085.1	ATP6V1E1-002	558	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000473248.1	ATP6V1E1-009	832	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000484653.1	ATP6V1E1-007	747	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000481365.1	ATP6V1E1-008	692	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: ATP6V1E1 ENSG00000131100

Summary

EMBL-EBI User Survey 2024

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Gene: ATP6V1E1 ENSG00000131100

Summary