Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8NHE4

- VA0E2_HUMAN

UniProt

Q8NHE4 - VA0E2_HUMAN

Protein

V-type proton ATPase subunit e 2

Gene

ATP6V0E2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
  1. 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

    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: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:21723. ATP6V0E2.

    Subcellular locationi

    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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

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

    Family & Domainsi

    Sequence similaritiesi

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

    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. 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:
    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

    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: October 1, 2014
    This is version 83 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