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Protein

V-type proton ATPase subunit e 2

Gene

ATP6V0E2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. ATPase activity, coupled to transmembrane movement of ions Source: UniProtKB
  2. proton-transporting ATPase activity, rotational mechanism Source: GO_Central

GO - Biological processi

  1. ATP hydrolysis coupled proton transport Source: InterPro
  2. cell growth Source: UniProtKB
  3. cellular iron ion homeostasis Source: Reactome
  4. insulin receptor signaling pathway Source: Reactome
  5. interaction with host Source: Reactome
  6. phagosome maturation Source: Reactome
  7. proton transport Source: GO_Central
  8. transferrin transport Source: Reactome
  9. transmembrane transport Source: GO_Central
  10. vacuolar acidification Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS15951-MONOMER.
ReactomeiREACT_1109. Insulin receptor recycling.
REACT_121256. Phagosomal maturation (early endosomal stage).
REACT_25283. Transferrin endocytosis and recycling.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:ATP6V0E2
Synonyms:ATP6V0E2L, C7orf32
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:21723. ATP6V0E2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei8 – 2821HelicalSequence AnalysisAdd
BLAST
Transmembranei36 – 5621HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endosome membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB
  3. membrane Source: GO_Central
  4. phagocytic vesicle membrane Source: Reactome
  5. proton-transporting V-type ATPase, V0 domain Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162377277.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 8181V-type proton ATPase subunit e 2PRO_0000270199Add
BLAST

Proteomic databases

PRIDEiQ8NHE4.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiQ8NHE4.
CleanExiHS_ATP6V0E2.
ExpressionAtlasiQ8NHE4. baseline and differential.
GenevestigatoriQ8NHE4.

Interactioni

Subunit structurei

Composed of at least 10 subunits.

Protein-protein interaction databases

BioGridi127575. 1 interaction.
STRINGi9606.ENSP00000411672.

Structurei

3D structure databases

ProteinModelPortaliQ8NHE4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG293344.
GeneTreeiENSGT00390000000728.
HOGENOMiHOG000205467.
HOVERGENiHBG003974.
InParanoidiQ8NHE4.
KOiK02153.
OMAiCTAVCCY.
PhylomeDBiQ8NHE4.

Family and domain databases

InterProiIPR008389. ATPase_V0-cplx_e1/e2_su.
IPR017385. ATPase_V0-cplx_e1/e2_su_met.
[Graphical view]
PANTHERiPTHR12263. PTHR12263. 1 hit.
PfamiPF05493. ATP_synt_H. 1 hit.
[Graphical view]
PIRSFiPIRSF038097. V-ATP_synth_e1/e2. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NHE4-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MTAHSFALPV IIFTTFWGLV GIAGPWFVPK GPNRGVIITM LVATAVCCYL
60 70 80
FWLIAILAQL NPLFGPQLKN ETIWYVRFLW E
Length:81
Mass (Da):9,184
Last modified:October 1, 2002 - v1
Checksum:iFACC53CB431BA445
GO
Isoform 2 (identifier: Q8NHE4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     51-81: FWLIAILAQLNPLFGPQLKNETIWYVRFLWE → LCPALGMTVA...TGQMPGLSPS

Show »
Length:164
Mass (Da):16,855
Checksum:iD892E2C67F207776
GO
Isoform 3 (identifier: Q8NHE4-3) [UniParc]FASTAAdd to basket

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.

Show »
Length:187
Mass (Da):19,550
Checksum:i6F9D4ACD50C88153
GO
Isoform 4 (identifier: Q8NHE4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRVRGPARLIASGARLLLRMLSALPGWGPAHLQRPLLGPASCLGILRPAM

Note: No experimental confirmation available.

Show »
Length:130
Mass (Da):14,348
Checksum:i2F88D3232A67D1EB
GO

Sequence cautioni

The sequence AAP97693.1 differs from that shown. Reason: Frameshift at positions 80 and 108. Curated
The sequence AAQ96859.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence BAC05292.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAE45916.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MRVRGPARLIASGARLLLRM LSALPGWGPAHLQRPLLGPA SCLGILRPAM in isoform 4. 1 PublicationVSP_044857
Alternative sequencei51 – 8131FWLIA…RFLWE → LCPALGMTVAPLSLTTPSSG PSPTQLCLVTSSLLLAPRDP DPQGLPGSWKSSQSSQPARA LGSPGHSSGRGDVLLQYPHC SGVCPLSQGDAAGELVWVGS FPLQTGQMPGLSPS in isoform 2. 1 PublicationVSP_027104Add
BLAST
Alternative sequencei75 – 817YVRFLWE → CPALGMTVAPLSLTTPSSGP SPTQLCLVTSSLLLAPRDPD PQGLPGSWKSSQSSQPARAL GSPGHSSGRGDVLLQYPHCS GVCPLSQGDAAGELVWVGSF PLQTGQMPGLSPS in isoform 3. 1 PublicationVSP_027105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS55181.1. [Q8NHE4-4]
RefSeqiNP_001094062.1. NM_001100592.2.
NP_001276919.1. NM_001289990.1.
NP_660265.2. NM_145230.3. [Q8NHE4-4]
UniGeneiHs.556998.

Genome annotation databases

EnsembliENST00000425642; 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]
ENST00000615196; ENSP00000481176; ENSG00000171130. [Q8NHE4-4]
GeneIDi155066.
KEGGihsa:155066.
UCSCiuc003wgr.3. human. [Q8NHE4-3]

Polymorphism databases

DMDMi74715659.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS55181.1. [Q8NHE4-4]
RefSeqiNP_001094062.1. NM_001100592.2.
NP_001276919.1. NM_001289990.1.
NP_660265.2. NM_145230.3. [Q8NHE4-4]
UniGeneiHs.556998.

3D structure databases

ProteinModelPortaliQ8NHE4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127575. 1 interaction.
STRINGi9606.ENSP00000411672.

Polymorphism databases

DMDMi74715659.

Proteomic databases

PRIDEiQ8NHE4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000425642; 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]
ENST00000615196; ENSP00000481176; ENSG00000171130. [Q8NHE4-4]
GeneIDi155066.
KEGGihsa:155066.
UCSCiuc003wgr.3. human. [Q8NHE4-3]

Organism-specific databases

CTDi155066.
GeneCardsiGC07P149570.
H-InvDBHIX0007198.
HGNCiHGNC:21723. ATP6V0E2.
MIMi611019. gene.
neXtProtiNX_Q8NHE4.
PharmGKBiPA162377277.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG293344.
GeneTreeiENSGT00390000000728.
HOGENOMiHOG000205467.
HOVERGENiHBG003974.
InParanoidiQ8NHE4.
KOiK02153.
OMAiCTAVCCY.
PhylomeDBiQ8NHE4.

Enzyme and pathway databases

BioCyciMetaCyc:HS15951-MONOMER.
ReactomeiREACT_1109. Insulin receptor recycling.
REACT_121256. Phagosomal maturation (early endosomal stage).
REACT_25283. Transferrin endocytosis and recycling.

Miscellaneous databases

ChiTaRSiATP6V0E2. human.
GenomeRNAii155066.
NextBioi35535430.
PROiQ8NHE4.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NHE4.
CleanExiHS_ATP6V0E2.
ExpressionAtlasiQ8NHE4. baseline and differential.
GenevestigatoriQ8NHE4.

Family and domain databases

InterProiIPR008389. ATPase_V0-cplx_e1/e2_su.
IPR017385. ATPase_V0-cplx_e1/e2_su_met.
[Graphical view]
PANTHERiPTHR12263. PTHR12263. 1 hit.
PfamiPF05493. ATP_synt_H. 1 hit.
[Graphical view]
PIRSFiPIRSF038097. V-ATP_synth_e1/e2. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(2006) [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 (APR-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. Zan Q., Guo J.H., Yu L.
    Submitted (OCT-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.
    , 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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  5. 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.
    , 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(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiVA0E2_HUMAN
AccessioniPrimary (citable) accession number: Q8NHE4
Secondary accession number(s): A2T863
, A2T8L7, B5MDP5, J3KQW7, Q6MZW1, Q75L47, Q7Z4R7, Q8N7I8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: October 1, 2002
Last modified: April 1, 2015
This is version 87 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.