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Q8NHE4 (VA0E2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
V-type proton ATPase subunit e 2

Short name=V-ATPase subunit e 2
Alternative name(s):
Lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2
Vacuolar proton pump subunit e 2
Gene names
Name:ATP6V0E2
Synonyms:ATP6V0E2L, C7orf32
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length81 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells By similarity.

Subunit structure

Composed of at least 10 subunits.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Isoform 1 is expressed at high levels in heart, brain and kidney and also detected in inner ear epithelium, vestibule, testis, epididymis and bladder. Isoform 2 is expressed in heart, kidney, placenta and pancreas. Isoform 2 is not detected in frontal cortex, but is prevalent in all other brain areas. Ref.1

Sequence similarities

Belongs to the V-ATPase e1/e2 subunit family.

Sequence caution

The sequence AAP97693.1 differs from that shown. Reason: Frameshift at positions 80 and 108.

The sequence AAQ96859.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence BAC05292.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence CAE45916.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processHydrogen ion transport
Ion transport
Transport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
   DomainTransmembrane
Transmembrane helix
   Molecular functionHydrolase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP hydrolysis coupled proton transport

Inferred from electronic annotation. Source: InterPro

cell growth

Inferred from genetic interaction Ref.1. Source: UniProtKB

cellular iron ion homeostasis

Traceable author statement. Source: Reactome

insulin receptor signaling pathway

Traceable author statement. Source: Reactome

interaction with host

Traceable author statement. Source: Reactome

phagosome maturation

Traceable author statement. Source: Reactome

transferrin transport

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

vacuolar acidification

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentendosome membrane

Traceable author statement. Source: Reactome

integral component of membrane

Non-traceable author statement Ref.1. Source: UniProtKB

phagocytic vesicle membrane

Traceable author statement. Source: Reactome

proton-transporting V-type ATPase, V0 domain

Inferred from electronic annotation. Source: InterPro

   Molecular_functionATPase activity, coupled to transmembrane movement of ions

Inferred from sequence or structural similarity. Source: UniProtKB

hydrogen ion transmembrane transporter activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NHE4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8NHE4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     51-81: FWLIAILAQLNPLFGPQLKNETIWYVRFLWE → LCPALGMTVA...TGQMPGLSPS
Isoform 3 (identifier: Q8NHE4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     75-81: YVRFLWE → CPALGMTVAP...TGQMPGLSPS
Note: May be due to a competing donor splice site.
Isoform 4 (identifier: Q8NHE4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRVRGPARLIASGARLLLRMLSALPGWGPAHLQRPLLGPASCLGILRPAM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 8181V-type proton ATPase subunit e 2
PRO_0000270199

Regions

Transmembrane8 – 2821Helical; Potential
Transmembrane36 – 5621Helical; Potential

Natural variations

Alternative sequence11M → MRVRGPARLIASGARLLLRM LSALPGWGPAHLQRPLLGPA SCLGILRPAM in isoform 4.
VSP_044857
Alternative sequence51 – 8131FWLIA…RFLWE → LCPALGMTVAPLSLTTPSSG PSPTQLCLVTSSLLLAPRDP DPQGLPGSWKSSQSSQPARA LGSPGHSSGRGDVLLQYPHC SGVCPLSQGDAAGELVWVGS FPLQTGQMPGLSPS in isoform 2.
VSP_027104
Alternative sequence75 – 817YVRFLWE → CPALGMTVAPLSLTTPSSGP SPTQLCLVTSSLLLAPRDPD PQGLPGSWKSSQSSQPARAL GSPGHSSGRGDVLLQYPHCS GVCPLSQGDAAGELVWVGSF PLQTGQMPGLSPS in isoform 3.
VSP_027105

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: FACC53CB431BA445

FASTA819,184
        10         20         30         40         50         60 
MTAHSFALPV IIFTTFWGLV GIAGPWFVPK GPNRGVIITM LVATAVCCYL FWLIAILAQL 

        70         80 
NPLFGPQLKN ETIWYVRFLW E 

« Hide

Isoform 2 [UniParc].

Checksum: D892E2C67F207776
Show »

FASTA16416,855
Isoform 3 [UniParc].

Checksum: 6F9D4ACD50C88153
Show »

FASTA18719,550
Isoform 4 [UniParc].

Checksum: 2F88D3232A67D1EB
Show »

FASTA13014,348

References

« Hide 'large scale' references
[1]"Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component."
Blake-Palmer K.G., Su Y., Smith A.N., Karet F.E.
Gene 393:94-100(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 1-61 (ISOFORM 2), TISSUE SPECIFICITY.
Tissue: Brain.
[2]Li N., Wan T., Zhang M., Zhang W., Cao X.
Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]Zan Q., Guo J.H., Yu L.
Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
Tissue: Placenta.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Cerebellum.
[6]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ995344 mRNA. Translation: ABK76305.1.
DQ989009 mRNA. Translation: ABK88279.1.
AY037164 mRNA. Translation: AAK67647.1.
AF452639 mRNA. Translation: AAP97693.1. Frameshift.
AK098362 mRNA. Translation: BAC05292.1. Different initiation.
BX640846 mRNA. Translation: CAE45916.1. Different initiation.
AC093458 Genomic DNA. Translation: AAQ96859.1. Sequence problems.
RefSeqNP_660265.2. NM_145230.3.
UniGeneHs.556998.

3D structure databases

ProteinModelPortalQ8NHE4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127575. 1 interaction.
STRING9606.ENSP00000411672.

Polymorphism databases

DMDM74715659.

Proteomic databases

PRIDEQ8NHE4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000425642; ENSP00000396148; ENSG00000171130. [Q8NHE4-1]
ENST00000456496; ENSP00000410220; ENSG00000171130. [Q8NHE4-4]
ENST00000464662; ENSP00000475645; ENSG00000171130. [Q8NHE4-1]
ENST00000471877; ENSP00000420679; ENSG00000171130. [Q8NHE4-1]
ENST00000479613; ENSP00000417939; ENSG00000171130. [Q8NHE4-3]
ENST00000606024; ENSP00000475904; ENSG00000171130. [Q8NHE4-2]
GeneID155066.
KEGGhsa:155066.
UCSCuc003wgr.3. human. [Q8NHE4-3]

Organism-specific databases

CTD155066.
GeneCardsGC07P149570.
H-InvDBHIX0007198.
HGNCHGNC:21723. ATP6V0E2.
MIM611019. gene.
neXtProtNX_Q8NHE4.
PharmGKBPA162377277.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293344.
HOGENOMHOG000265078.
HOVERGENHBG003974.
KOK02153.
OMAIVFTTFW.
PhylomeDBQ8NHE4.

Enzyme and pathway databases

BioCycMetaCyc:HS15951-MONOMER.
ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ8NHE4.
BgeeQ8NHE4.
CleanExHS_ATP6V0E2.
GenevestigatorQ8NHE4.

Family and domain databases

InterProIPR008389. ATPase_V0-cplx_e1/e2_su.
IPR017385. ATPase_V0-cplx_e1/e2_su_met.
[Graphical view]
PANTHERPTHR12263. PTHR12263. 1 hit.
PfamPF05493. ATP_synt_H. 1 hit.
[Graphical view]
PIRSFPIRSF038097. V-ATP_synth_e1/e2. 1 hit.
ProtoNetSearch...

Other

ChiTaRSATP6V0E2. human.
GenomeRNAi155066.
NextBio35535430.
PROQ8NHE4.
SOURCESearch...

Entry information

Entry nameVA0E2_HUMAN
AccessionPrimary (citable) accession number: Q8NHE4
Secondary accession number(s): A2T863 expand/collapse secondary AC list , A2T8L7, B5MDP5, J3KQW7, Q6MZW1, Q75L47, Q7Z4R7, Q8N7I8
Entry history
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: October 1, 2002
Last modified: April 16, 2014
This is version 79 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM