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Q9Y487

- VPP2_HUMAN

UniProt

Q9Y487 - VPP2_HUMAN

Protein

V-type proton ATPase 116 kDa subunit a isoform 2

Gene

ATP6V0A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 2 (18 Mar 2008)
      Previous versions | rss
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    Functioni

    Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH.2 Publications

    GO - Molecular functioni

    1. hydrogen ion transmembrane transporter activity Source: InterPro
    2. protein binding Source: IntAct

    GO - Biological processi

    1. ATP hydrolysis coupled proton transport Source: InterPro
    2. cellular iron ion homeostasis Source: Reactome
    3. immune response Source: ProtInc
    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

    Keywords - Biological processi

    Hydrogen ion transport, Ion transport, Transport

    Enzyme and pathway databases

    BioCyciMetaCyc:G66-33375-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 116 kDa subunit a isoform 2
    Short name:
    V-ATPase 116 kDa isoform a2
    Alternative name(s):
    Lysosomal H(+)-transporting ATPase V0 subunit a2
    TJ6
    Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:18481. ATP6V0A2.

    Subcellular locationi

    Cell membrane; Multi-pass membrane protein. Endosome membrane
    Note: In kidney proximal tubules, also detected in subapical vesicles.By similarity

    GO - Cellular componenti

    1. acrosomal vesicle Source: Ensembl
    2. cytoplasm Source: HPA
    3. endosome membrane Source: Reactome
    4. integral component of membrane Source: UniProtKB-KW
    5. lysosomal membrane Source: UniProtKB
    6. phagocytic vesicle membrane Source: Reactome
    7. plasma membrane Source: HPA
    8. vacuolar proton-transporting V-type ATPase, V0 domain Source: InterPro

    Keywords - Cellular componenti

    Cell membrane, Endosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Cutis laxa, autosomal recessive, 2A (ARCL2A) [MIM:219200]: A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Wrinkly skin syndrome (WSS) [MIM:278250]: A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi219200. phenotype.
    278250. phenotype.
    Orphaneti357074. Autosomal recessive cutis laxa type 2, classic type.
    2834. Wrinkly skin syndrome.
    PharmGKBiPA38549.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 856856V-type proton ATPase 116 kDa subunit a isoform 2PRO_0000119216Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi484 – 4841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi505 – 5051N-linked (GlcNAc...)Sequence Analysis
    Modified residuei695 – 6951Phosphoserine1 Publication
    Modified residuei700 – 7001PhosphoserineBy similarity

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9Y487.
    PaxDbiQ9Y487.
    PRIDEiQ9Y487.

    PTM databases

    PhosphoSiteiQ9Y487.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y487.
    BgeeiQ9Y487.
    CleanExiHS_ATP6V0A2.
    GenevestigatoriQ9Y487.

    Organism-specific databases

    HPAiHPA044279.

    Interactioni

    Subunit structurei

    The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. Directly interacts with PSCD2 through its N-terminal cytosolic tail in an intra-endosomal acidification-dependent manner. Disruption of this interaction results in the inhibition of endocytosis.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CYTH2Q994182EBI-988630,EBI-448974

    Protein-protein interaction databases

    BioGridi117089. 9 interactions.
    IntActiQ9Y487. 2 interactions.
    STRINGi9606.ENSP00000332247.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y487.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 393393CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini413 – 4142VacuolarSequence Analysis
    Topological domaini432 – 44514CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini476 – 54974VacuolarSequence AnalysisAdd
    BLAST
    Topological domaini570 – 58718CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini609 – 65143VacuolarSequence AnalysisAdd
    BLAST
    Topological domaini672 – 73968CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini765 – 78521VacuolarSequence AnalysisAdd
    BLAST
    Topological domaini825 – 85632CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei394 – 41219HelicalSequence AnalysisAdd
    BLAST
    Transmembranei415 – 43117HelicalSequence AnalysisAdd
    BLAST
    Transmembranei446 – 47530HelicalSequence AnalysisAdd
    BLAST
    Transmembranei550 – 56920HelicalSequence AnalysisAdd
    BLAST
    Transmembranei588 – 60821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei652 – 67120HelicalSequence AnalysisAdd
    BLAST
    Transmembranei740 – 76425HelicalSequence AnalysisAdd
    BLAST
    Transmembranei786 – 82439HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the V-ATPase 116 kDa subunit family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1269.
    HOGENOMiHOG000037059.
    HOVERGENiHBG014606.
    InParanoidiQ9Y487.
    KOiK02154.
    OMAiEIMRMFF.
    OrthoDBiEOG74FF04.
    PhylomeDBiQ9Y487.
    TreeFamiTF300346.

    Family and domain databases

    InterProiIPR002490. V-ATPase_116kDa_su.
    IPR026028. V-type_ATPase_116kDa_su_euka.
    [Graphical view]
    PANTHERiPTHR11629. PTHR11629. 1 hit.
    PfamiPF01496. V_ATPase_I. 1 hit.
    [Graphical view]
    PIRSFiPIRSF001293. ATP6V0A1. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9Y487-1 [UniParc]FASTAAdd to Basket

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    MGSLFRSETM CLAQLFLQSG TAYECLSALG EKGLVQFRDL NQNVSSFQRK    50
    FVGEVKRCEE LERILVYLVQ EINRADIPLP EGEASPPAPP LKQVLEMQEQ 100
    LQKLEVELRE VTKNKEKLRK NLLELIEYTH MLRVTKTFVK RNVEFEPTYE 150
    EFPSLESDSL LDYSCMQRLG AKLGFVSGLI NQGKVEAFEK MLWRVCKGYT 200
    IVSYAELDES LEDPETGEVI KWYVFLISFW GEQIGHKVKK ICDCYHCHVY 250
    PYPNTAEERR EIQEGLNTRI QDLYTVLHKT EDYLRQVLCK AAESVYSRVI 300
    QVKKMKAIYH MLNMCSFDVT NKCLIAEVWC PEADLQDLRR ALEEGSRESG 350
    ATIPSFMNII PTKETPPTRI RTNKFTEGFQ NIVDAYGVGS YREVNPALFT 400
    IITFPFLFAV MFGDFGHGFV MFLFALLLVL NENHPRLNQS QEIMRMFFNG 450
    RYILLLMGLF SVYTGLIYND CFSKSVNLFG SGWNVSAMYS SSHPPAEHKK 500
    MVLWNDSVVR HNSILQLDPS IPGVFRGPYP LGIDPIWNLA TNRLTFLNSF 550
    KMKMSVILGI IHMTFGVILG IFNHLHFRKK FNIYLVSIPE LLFMLCIFGY 600
    LIFMIFYKWL VFSAETSRVA PSILIEFINM FLFPASKTSG LYTGQEYVQR 650
    VLLVVTALSV PVLFLGKPLF LLWLHNGRSC FGVNRSGYTL IRKDSEEEVS 700
    LLGSQDIEEG NHQVEDGCRE MACEEFNFGE ILMTQVIHSI EYCLGCISNT 750
    ASYLRLWALS LAHAQLSDVL WAMLMRVGLR VDTTYGVLLL LPVIALFAVL 800
    TIFILLIMEG LSAFLHAIRL HWVEFQNKFY VGAGTKFVPF SFSLLSSKFN 850
    NDDSVA 856
    Length:856
    Mass (Da):98,082
    Last modified:March 18, 2008 - v2
    Checksum:i6C38B36FA33A92BA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti428 – 4281L → W in AAD04632. 1 PublicationCurated
    Sequence conflicti669 – 6691L → P in BAF82080. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti685 – 6851R → Q.
    Corresponds to variant rs7969410 [ dbSNP | Ensembl ].
    VAR_042730
    Natural varianti813 – 8131A → V.
    Corresponds to variant rs17883456 [ dbSNP | Ensembl ].
    VAR_042731

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF112972 mRNA. Translation: AAD04632.1.
    AK289391 mRNA. Translation: BAF82080.1.
    CH471054 Genomic DNA. Translation: EAW98434.1.
    BC068531 mRNA. Translation: AAH68531.1.
    CCDSiCCDS9254.1.
    RefSeqiNP_036595.2. NM_012463.3.
    UniGeneiHs.25786.

    Genome annotation databases

    EnsembliENST00000330342; ENSP00000332247; ENSG00000185344.
    GeneIDi23545.
    KEGGihsa:23545.
    UCSCiuc001ufr.3. human.

    Polymorphism databases

    DMDMi172046607.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF112972 mRNA. Translation: AAD04632.1 .
    AK289391 mRNA. Translation: BAF82080.1 .
    CH471054 Genomic DNA. Translation: EAW98434.1 .
    BC068531 mRNA. Translation: AAH68531.1 .
    CCDSi CCDS9254.1.
    RefSeqi NP_036595.2. NM_012463.3.
    UniGenei Hs.25786.

    3D structure databases

    ProteinModelPortali Q9Y487.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117089. 9 interactions.
    IntActi Q9Y487. 2 interactions.
    STRINGi 9606.ENSP00000332247.

    PTM databases

    PhosphoSitei Q9Y487.

    Polymorphism databases

    DMDMi 172046607.

    Proteomic databases

    MaxQBi Q9Y487.
    PaxDbi Q9Y487.
    PRIDEi Q9Y487.

    Protocols and materials databases

    DNASUi 23545.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330342 ; ENSP00000332247 ; ENSG00000185344 .
    GeneIDi 23545.
    KEGGi hsa:23545.
    UCSCi uc001ufr.3. human.

    Organism-specific databases

    CTDi 23545.
    GeneCardsi GC12P124196.
    GeneReviewsi ATP6V0A2.
    H-InvDB HIX0011113.
    HGNCi HGNC:18481. ATP6V0A2.
    HPAi HPA044279.
    MIMi 219200. phenotype.
    278250. phenotype.
    611716. gene.
    neXtProti NX_Q9Y487.
    Orphaneti 357074. Autosomal recessive cutis laxa type 2, classic type.
    2834. Wrinkly skin syndrome.
    PharmGKBi PA38549.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1269.
    HOGENOMi HOG000037059.
    HOVERGENi HBG014606.
    InParanoidi Q9Y487.
    KOi K02154.
    OMAi EIMRMFF.
    OrthoDBi EOG74FF04.
    PhylomeDBi Q9Y487.
    TreeFami TF300346.

    Enzyme and pathway databases

    BioCyci MetaCyc:G66-33375-MONOMER.
    Reactomei REACT_1109. Insulin receptor recycling.
    REACT_121256. Phagosomal maturation (early endosomal stage).
    REACT_25283. Transferrin endocytosis and recycling.

    Miscellaneous databases

    ChiTaRSi ATP6V0A2. human.
    GeneWikii ATP6V0A2.
    GenomeRNAii 23545.
    NextBioi 46076.
    PROi Q9Y487.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y487.
    Bgeei Q9Y487.
    CleanExi HS_ATP6V0A2.
    Genevestigatori Q9Y487.

    Family and domain databases

    InterProi IPR002490. V-ATPase_116kDa_su.
    IPR026028. V-type_ATPase_116kDa_su_euka.
    [Graphical view ]
    PANTHERi PTHR11629. PTHR11629. 1 hit.
    Pfami PF01496. V_ATPase_I. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF001293. ATP6V0A1. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of human TJ6 homolog."
      Babichev Y., Isakov N.
      Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "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].
      Tissue: Astrocyte.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    5. "V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway."
      Hurtado-Lorenzo A., Skinner M., El Annan J., Futai M., Sun-Wada G.-H., Bourgoin S., Casanova J., Wildeman A., Bechoua S., Ausiello D.A., Brown D., Marshansky V.
      Nat. Cell Biol. 8:124-136(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PSCD2.
    6. "The N-terminal domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells."
      Ntrivalas E., Gilman-Sachs A., Kwak-Kim J., Beaman K.
      Am. J. Reprod. Immunol. 57:201-209(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-695, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    8. Cited for: INVOLVEMENT IN ARCL2A, INVOLVEMENT IN WSS, FUNCTION, SUBCELLULAR LOCATION.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiVPP2_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y487
    Secondary accession number(s): A8K026, Q6NUM0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: March 18, 2008
    Last modified: October 1, 2014
    This is version 126 of the entry and version 2 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

    Caution

    The N-terminal peptide may increase IL1B secretion by peripheral blood monocytes; however as this region is probably in the cytosol, the in vivo relevance of this observation needs to be confirmed.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3