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
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000253413.5 | ATP6V1E1-001 | 1402 | 226aa | ENSP00000253413.5 | Protein coding | CCDS13745 | P36543 Q53Y06 | NM_001696.3 | Ensembl Canonical, GENCODE basic, |
ENST00000399796.2 | ATP6V1E1-006 | 1208 | 196aa | ENSP00000382694.2 | Protein coding | CCDS42978 | P36543 | NM_001039367.1 | GENCODE basic, |
ENST00000399798.2 | ATP6V1E1-005 | 994 | 204aa | ENSP00000382696.2 | Protein coding | CCDS42977 | P36543 | NM_001039366.1 | GENCODE basic, |
ENST00000413576.1 | ATP6V1E1-004 | 800 | 203aa | ENSP00000398932.1 | Protein coding | C9J8H1 | - | CDS 3' incomplete, | |
ENST00000478963.1 | ATP6V1E1-003 | 587 | No protein | - | Processed transcript | - | - | - | |
ENST00000460085.1 | ATP6V1E1-002 | 558 | No protein | - | Processed transcript | - | - | - | |
ENST00000473248.1 | ATP6V1E1-009 | 832 | No protein | - | Retained intron | - | - | - | |
ENST00000484653.1 | ATP6V1E1-007 | 747 | No protein | - | Retained intron | - | - | - | |
ENST00000481365.1 | ATP6V1E1-008 | 692 | No protein | - | Retained intron | - | - | - |