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Gene

ATP6V0A1

ATPase H+ transporting V0 subunit a1

Summary

Cytogenetic location
17q21.2
Coordinates
Chromosome 17: 42,458,878–42,522,579 (GRCh38)
Exons
22 exons across 63.7 kb
Protein
837 amino acids
Also known as
a1, Vph1, Stv1
Previous symbols
VPP1, ATP6N1, ATP6N1A
MANE Select transcript
ENST00000343619.9NM_001130021.3
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • 3 GenCC submitters rate it definitive or strong

    How ATP6V0A1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 17, with a bracket where ATP6V0A1 sits. ATP6V0A1 and 42 genes near it on chromosome 17, from 41,990,729 to 42,990,728.Chromosome 1717q21.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.342 Mb42.2 Mb42.4 Mb42.6 Mb42.8 MbDNAJC7: 41,974,005–42,021,376, reverse strandDNAJC7NKIRAS2: 42,011,382–42,025,644, forward strandNKIRAS2ZNF385C: 42,025,576–42,098,479, reverse strandZNF385CC17orf113: 42,038,232–42,050,601, reverse strandC17orf113DHX58: 42,101,404–42,112,735, reverse strandKAT2A: 42,113,109–42,121,382, reverse strand: 42,119,674–42,154,916, reverse strandHSPB9: 42,122,804–42,123,352, forward strandHSPB9RAB5C: 42,124,976–42,155,044, reverse strandRAB5CKCNH4: 42,156,891–42,181,146, reverse strandKCNH4HCRT: 42,184,060–42,185,452, reverse strandHCRTGHDC: 42,188,799–42,194,513, reverse strandGHDCSTAT5B: 42,199,176–42,288,633, reverse strandSTAT5BSTAT5A: 42,287,547–42,311,943, forward strandSTAT5ASTAT3: 42,313,322–42,388,574, reverse strandSTAT3CAVIN1: 42,402,449–42,423,322, reverse strandCAVIN1ATP6V0A1: 42,458,878–42,522,579, forward strandATP6V0A1NAGLU: 42,536,216–42,544,449, forward strandNAGLUHSD17B1: 42,552,920–42,555,217, forward strandHSD17B1COASY: 42,561,467–42,566,277, forward strandCOASYMLX: 42,567,067–42,573,239, forward strandMLXPSMC3IP: 42,572,310–42,577,831, reverse strandRETREG3: 42,579,508–42,610,623, reverse strandTUBG1: 42,609,411–42,615,253, forward strandTUBG2: 42,659,223–42,667,007, forward strandTUBG2PLEKHH3: 42,667,914–42,677,064, reverse strandPLEKHH3CCR10: 42,678,889–42,683,917, reverse strandCCR10CNTNAP1: 42,682,368–42,699,993, forward strandCNTNAP1EZH1: 42,700,270–42,745,069, reverse strandEZH1RAMP2: 42,758,447–42,763,537, forward strandRAMP2VPS25: 42,773,439–42,779,600, forward strandVPS25WNK4: 42,780,593–42,797,066, forward strandWNK4COA3: 42,793,154–42,798,719, reverse strandCOA3CNTD1: 42,798,800–42,811,587, forward strandBECN1: 42,809,108–42,833,350, reverse strandBECN1PSME3: 42,824,385–42,843,760, forward strandAOC2: 42,844,574–42,850,707, forward strandAOC2AOC3: 42,851,130–42,858,130, forward strandAOC3G6PC1: 42,900,722–42,923,502, forward strandG6PC1AARSD1: 42,950,424–42,964,498, reverse strandAARSD1PTGES3L-AARSD1: 42,950,526–42,980,528, reverse strandPTGES3L-AARSD1PTGES3L: 42,968,035–42,980,502, reverse strandPTGES3LRUNDC1: 42,980,552–42,995,142, forward strandRUNDC1Diagram of ATP6V0A1: 22 exons on the forward strand of chromosome 17Exon 2: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 1: 42,458,878–42,458,963, 86 basesExon 2: 42,460,848–42,461,011, 164 basesExon 3: 42,466,429–42,466,507, 79 basesExon 4: 42,468,010–42,468,107, 98 basesExon 5: 42,470,090–42,470,218, 129 basesExon 6: 42,477,660–42,477,742, 83 basesExon 7: 42,478,463–42,478,589, 127 basesExon 8: 42,480,667–42,480,749, 83 basesExon 9: 42,483,038–42,483,131, 94 basesExon 10: 42,487,155–42,487,367, 213 basesExon 11: 42,490,487–42,490,637, 151 basesExon 12: 42,494,334–42,494,473, 140 basesExon 13: 42,495,034–42,495,188, 155 basesExon 14: 42,495,626–42,495,716, 91 basesExon 15: 42,498,924–42,499,042, 119 basesExon 16: 42,500,707–42,500,923, 217 basesExon 17: 42,501,197–42,501,304, 108 basesExon 18: 42,507,520–42,507,627, 108 basesExon 19: 42,508,572–42,508,589, 18 basesExon 20: 42,513,861–42,513,978, 118 basesExon 21: 42,514,289–42,514,460, 172 basesExon 22: 42,521,027–42,522,579, 1,553 bases15101520225′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 4.1 kb of the gene's 63.7 kb; 2,514 of those bases code for the protein.

    Sequencing ATP6V0A1

    4

    positions in ATP6V0A1 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 63.7 kb of ATP6V0A1, introns included, not only the 4.1 kb of exons.

    Genes linked to the same conditions

    Traits linked to ATP6V0A1

    The Human Phenotype Ontology lists these as features of the rare conditions ATP6V0A1 can cause. Each trait's page lists the other genes linked to it.

    External links

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.17-8666dff2.

    Cite this page

    APA

    Dante Labs. (n.d.). ATP6V0A1 gene: ATPase H+ transporting V0 subunit a1. Retrieved 17 October 2026, from https://dantelabs.com/genes/atp6v0a1

    Vancouver

    Dante Labs. ATP6V0A1 gene: ATPase H+ transporting V0 subunit a1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atp6v0a1

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