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Q8NHE4

- VA0E2_HUMAN

UniProt

Q8NHE4 - VA0E2_HUMAN

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Protein

V-type proton ATPase subunit e 2

Gene
ATP6V0E2, ATP6V0E2L, C7orf32
Organism
Homo sapiens (Human)
Status
Reviewed - 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. hydrogen ion transmembrane transporter activity Source: InterPro

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. transferrin transport Source: Reactome
  8. transmembrane transport Source: Reactome
  9. 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
Synonyms:ATP6V0E2L, C7orf32
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:21723. ATP6V0E2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei8 – 2821Helical; Reviewed predictionAdd
BLAST
Transmembranei36 – 5621Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. endosome membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB
  3. phagocytic vesicle membrane Source: Reactome
  4. 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

ArrayExpressiQ8NHE4.
BgeeiQ8NHE4.
CleanExiHS_ATP6V0E2.
GenevestigatoriQ8NHE4.

Interactioni

Subunit structurei

Composed of at least 10 subunits.

Protein-protein interaction databases

BioGridi127575. 1 interaction.
STRINGi9606.ENSP00000411672.

Structurei

3D structure databases

ProteinModelPortaliQ8NHE4.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG293344.
HOGENOMiHOG000265078.
HOVERGENiHBG003974.
KOiK02153.
OMAiIVFTTFW.
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. Align

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

MTAHSFALPV IIFTTFWGLV GIAGPWFVPK GPNRGVIITM LVATAVCCYL   50
FWLIAILAQL NPLFGPQLKN ETIWYVRFLW E 81
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.
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.
The sequence AAQ96859.1 differs from that shown. Reason: Erroneous gene model prediction.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MRVRGPARLIASGARLLLRM LSALPGWGPAHLQRPLLGPA SCLGILRPAM in isoform 4. VSP_044857
Alternative sequencei51 – 8131FWLIA…RFLWE → LCPALGMTVAPLSLTTPSSG PSPTQLCLVTSSLLLAPRDP DPQGLPGSWKSSQSSQPARA LGSPGHSSGRGDVLLQYPHC SGVCPLSQGDAAGELVWVGS FPLQTGQMPGLSPS in isoform 2. VSP_027104Add
BLAST
Alternative sequencei75 – 817YVRFLWE → CPALGMTVAPLSLTTPSSGP SPTQLCLVTSSLLLAPRDPD PQGLPGSWKSSQSSQPARAL GSPGHSSGRGDVLLQYPHCS GVCPLSQGDAAGELVWVGSF PLQTGQMPGLSPS in isoform 3. VSP_027105

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
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:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS55181.1. [Q8NHE4-4 ]
RefSeqi NP_001094062.1. NM_001100592.2.
NP_001276919.1. NM_001289990.1.
NP_660265.2. NM_145230.3. [Q8NHE4-4 ]
UniGenei Hs.556998.

3D structure databases

ProteinModelPortali Q8NHE4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127575. 1 interaction.
STRINGi 9606.ENSP00000411672.

Polymorphism databases

DMDMi 74715659.

Proteomic databases

PRIDEi Q8NHE4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000425642 ; 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 ]
GeneIDi 155066.
KEGGi hsa:155066.
UCSCi uc003wgr.3. human. [Q8NHE4-3 ]

Organism-specific databases

CTDi 155066.
GeneCardsi GC07P149570.
H-InvDB HIX0007198.
HGNCi HGNC:21723. ATP6V0E2.
MIMi 611019. gene.
neXtProti NX_Q8NHE4.
PharmGKBi PA162377277.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG293344.
HOGENOMi HOG000265078.
HOVERGENi HBG003974.
KOi K02153.
OMAi IVFTTFW.
PhylomeDBi Q8NHE4.

Enzyme and pathway databases

BioCyci MetaCyc:HS15951-MONOMER.
Reactomei REACT_1109. Insulin receptor recycling.
REACT_121256. Phagosomal maturation (early endosomal stage).
REACT_25283. Transferrin endocytosis and recycling.

Miscellaneous databases

ChiTaRSi ATP6V0E2. human.
GenomeRNAii 155066.
NextBioi 35535430.
PROi Q8NHE4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8NHE4.
Bgeei Q8NHE4.
CleanExi HS_ATP6V0E2.
Genevestigatori Q8NHE4.

Family and domain databases

InterProi IPR008389. ATPase_V0-cplx_e1/e2_su.
IPR017385. ATPase_V0-cplx_e1/e2_su_met.
[Graphical view ]
PANTHERi PTHR12263. PTHR12263. 1 hit.
Pfami PF05493. ATP_synt_H. 1 hit.
[Graphical view ]
PIRSFi PIRSF038097. V-ATP_synth_e1/e2. 1 hit.
ProtoNeti Search...

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(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.
    , 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. 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(2003) [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: September 3, 2014
This is version 82 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