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

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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	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		-	-	-

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Gene: ATP6V1E1 ENSG00000131100

Summary