ATP6V1E1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ATP6V1E1 (HGNC:857) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ATPase H+ transporting V1 subunit E1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ATP6E, ATP6V1E
Alias symbols
P31, Vma4, ATP6E2
%HI
39.36(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.85(Read more about gnomAD LOEUF score)
Cytoband
22q11.21
Genomic Coordinates
GRCh37/hg19: chr22:18074902-18111588 NCBI Ensembl UCSC
GRCh38/hg38: chr22:17592136-17628822 NCBI Ensembl UCSC
MANE Select Transcript
NM_001696.4 ENST00000253413.10 (Read more about MANE Select)
Function
Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002, PubMed:32001091). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). {ECO:0000269|PubMed:... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30837
ClinGen Curation ID:
CCID:006716
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/26/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There is no disease associated with mutations in this gene. No human mutations have been reported.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There is no disease associated with mutations in this gene. No human mutations have been reported. Note: There is a recent case report of a single patient with a 600Kb triplication involving ATP6V1E1 and two flanking genes (see PMID: 22395867). The triplication segregated in a thee-generation family with anal atresia and preauricular tags or pits - clinical manifestations overlapping CES.

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)