ATP6V1E2

Protein-coding gene in the species Homo sapiens
ATP6V1E2
Identifiers
AliasesATP6V1E2, ATP6E1, ATP6EL2, ATP6V1EL2, VMA4, ATPase H+ transporting V1 subunit E2
External IDsOMIM: 617385; MGI: 1922165; HomoloGene: 41770; GeneCards: ATP6V1E2; OMA:ATP6V1E2 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for ATP6V1E2
Genomic location for ATP6V1E2
Band2p21|2p16-p12Start46,490,750 bp[1]
End46,542,577 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for ATP6V1E2
Genomic location for ATP6V1E2
Band17|17 E4Start87,251,537 bp[2]
End87,255,325 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sperm

  • right testis

  • left testis

  • gonad

  • islet of Langerhans

  • white blood cell

  • monocyte

  • testicle

  • C1 segment

  • muscle of thigh
Top expressed in
  • seminiferous tubule

  • spermatid

  • submandibular gland

  • spermatocyte

  • gastrula

  • mucosa of small intestine

  • lumbar spinal ganglion

  • medial ganglionic eminence

  • right ventricle

  • lumbar subsegment of spinal cord
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • P-type proton-exporting transporter activity
  • protein binding
  • proton-transporting ATPase activity, rotational mechanism
Cellular component
  • cytosol
  • acrosomal vesicle
  • proton-transporting two-sector ATPase complex, catalytic domain
Biological process
  • insulin receptor signaling pathway
  • ion transmembrane transport
  • ion transport
  • transferrin transport
  • regulation of macroautophagy
  • phagosome acidification
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

90423

74915

Ensembl

ENSG00000250565

ENSMUSG00000053375

UniProt

Q96A05

Q9D593

RefSeq (mRNA)

NM_080653
NM_001318063
NM_001371281
NM_001371282
NM_001371283

NM_029121

RefSeq (protein)

NP_001304992
NP_001358210
NP_001358211
NP_001358212

NP_083397

Location (UCSC)Chr 2: 46.49 – 46.54 MbChr 17: 87.25 – 87.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

V-type proton ATPase subunit E 2 is an enzyme that in humans is encoded by the ATP6V1E2 gene.[5][6]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000250565 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053375 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Imai-Senga Y, Sun-Wada GH, Wada Y, Futai M (May 2002). "A human gene, ATP6E1, encoding a testis-specific isoform of H(+)-ATPase subunit E". Gene. 289 (1–2): 7–12. doi:10.1016/S0378-1119(02)00542-5. PMID 12036578.
  6. ^ "Entrez Gene: ATP6V1E2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2".

External links

Further reading

  • Nishi T, Forgac M (2002). "The vacuolar (H+)-ATPases--nature's most versatile proton pumps". Nat. Rev. Mol. Cell Biol. 3 (2): 94–103. doi:10.1038/nrm729. PMID 11836511. S2CID 21122465.
  • Kawasaki-Nishi S, Nishi T, Forgac M (2003). "Proton translocation driven by ATP hydrolysis in V-ATPases". FEBS Lett. 545 (1): 76–85. doi:10.1016/S0014-5793(03)00396-X. PMID 12788495. S2CID 10507213.
  • Morel N (2004). "Neurotransmitter release: the dark side of the vacuolar-H+ATPase". Biol. Cell. 95 (7): 453–7. doi:10.1016/S0248-4900(03)00075-3. PMID 14597263. S2CID 17519696.
  • Breton S, Wiederhold T, Marshansky V, et al. (2000). "The B1 subunit of the H+ATPase is a PDZ domain-binding protein. Colocalization with NHE-RF in renal B-intercalated cells". J. Biol. Chem. 275 (24): 18219–24. doi:10.1074/jbc.M909857199. PMID 10748165.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Smith AN, Lovering RC, Futai M, et al. (2003). "Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes". Mol. Cell. 12 (4): 801–3. doi:10.1016/S1097-2765(03)00397-6. PMID 14580332.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.


  • v
  • t
  • e