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Gene: ATP6V1A (ATPase H+ transporting V1 subunit A) Homo sapiens
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Symbol: ATP6V1A
Name: ATPase H+ transporting V1 subunit A
RGD ID: 1323585
Description: Predicted to have proton-transporting ATPase activity, rotational mechanism. Involved in cellular iron ion homeostasis and cellular response to increased oxygen levels. Localizes to extracellular exosome and lysosomal membrane. Implicated in autosomal recessive cutis laxa type IID and childhood onset epileptic encephalopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARCL2D; ATP6A1; ATP6V1A1; ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A; ATPase, H+ transporting, lysosomal, subunit A1; H(+)-transporting two-sector ATPase, subunit A; H+-transporting ATPase chain A, vacuolar (VA68 type); HO68; IECEE3; V-ATPase 69 kDa subunit 1; V-ATPase A subunit 1; V-ATPase subunit A; V-type proton ATPase catalytic subunit A; VA68; vacuolar ATP synthase catalytic subunit A, ubiquitous isoform; vacuolar ATPase isoform VA68; vacuolar proton pump alpha subunit 1; vacuolar proton pump subunit alpha; Vma1; VPP2
Orthologs:
Mus musculus (house mouse) : Atp6v1a (ATPase, H+ transporting, lysosomal V1 subunit A)  MGI  Alliance
Rattus norvegicus (Norway rat) : Atp6v1a (ATPase H+ transporting V1 subunit A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Atp6v1a (ATPase H+ transporting V1 subunit A)
Pan paniscus (bonobo/pygmy chimpanzee) : ATP6V1A (ATPase H+ transporting V1 subunit A)
Canis lupus familiaris (dog) : ATP6V1A (ATPase H+ transporting V1 subunit A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Atp6v1a (ATPase H+ transporting V1 subunit A)
Sus scrofa (pig) : ATP6V1A (ATPase H+ transporting V1 subunit A)
Chlorocebus sabaeus (African green monkey) : ATP6V1A (ATPase H+ transporting V1 subunit A)
Heterocephalus glaber (naked mole-rat) : Atp6v1a (ATPase H+ transporting V1 subunit A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3113,747,033 - 113,812,056 (+)EnsemblGRCh38hg38GRCh38
GRCh383113,747,035 - 113,812,056 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373113,465,866 - 113,530,905 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363114,948,598 - 115,013,593 (+)NCBINCBI36hg18NCBI36
Build 343114,948,597 - 115,013,591NCBI
Celera3111,874,398 - 111,939,560 (+)NCBI
Cytogenetic Map3q13.31NCBI
HuRef3110,840,759 - 110,905,622 (+)NCBIHuRef
CHM1_13113,429,223 - 113,494,222 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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References - uncurated

Genomics

Comparative Map Data
Position Markers
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Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ATP6V1A
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1323585
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-09-16
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.