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Gene: ATP6V1E1 (ATPase H+ transporting V1 subunit E1) Homo sapiens
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Symbol: ATP6V1E1
Name: ATPase H+ transporting V1 subunit E1
Description: Exhibits ATPase binding activity. Predicted to be involved in several processes, including insulin receptor signaling pathway; phagosome acidification; and transferrin transport. Localizes to extracellular exosome and lysosomal membrane. Implicated in autosomal recessive cutis laxa type IIC.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARCL2C; ATP6E; ATP6E2; ATP6V1E; ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1; H(+)-transporting two-sector ATPase, 31kDa subunit; H+-transporting ATP synthase chain E, vacuolar; P31; V-ATPase 31 kDa subunit; V-ATPase subunit E 1; V-ATPase, subunit E; V-type proton ATPase subunit E 1; vacuolar proton pump subunit E 1; Vma4
Orthologs:
Mus musculus (house mouse) : Atp6v1e1 (ATPase, H+ transporting, lysosomal V1 subunit E1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Atp6v1e1 (ATPase H+ transporting V1 subunit E1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Atp6v1e1 (ATPase H+ transporting V1 subunit E1)
Pan paniscus (bonobo/pygmy chimpanzee) : ATP6V1E1 (ATPase H+ transporting V1 subunit E1)
Canis lupus familiaris (dog) : ATP6V1E1 (ATPase H+ transporting V1 subunit E1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Atp6v1e1 (ATPase H+ transporting V1 subunit E1)
Sus scrofa (pig) : ATP6V1E1 (ATPase H+ transporting V1 subunit E1)
Chlorocebus sabaeus (African green monkey) : ATP6V1E1 (ATPase H+ transporting V1 subunit E1)
Heterocephalus glaber (naked mole-rat) : Atp6v1e1 (ATPase H+ transporting V1 subunit E1)
more info ...
Related Pseudogenes: ATP6V1E1P1   ATP6V1E1P2   ATP6V1E1P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2217,592,136 - 17,628,749 (-)EnsemblGRCh38hg38GRCh38
GRCh382217,592,136 - 17,628,822 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372218,074,902 - 18,111,588 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362216,454,902 - 16,491,588 (-)NCBINCBI36hg18NCBI36
Build 342216,449,478 - 16,486,089NCBI
Celera221,694,652 - 1,731,337 (-)NCBI
Cytogenetic Map22q11.21NCBI
HuRef221,890,227 - 1,926,475 (-)NCBIHuRef
CHM1_12218,074,451 - 18,110,848 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Disease Annotations
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References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ATP6V1E1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1347206
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.