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Q93050

- VPP1_HUMAN

UniProt

Q93050 - VPP1_HUMAN

Protein

V-type proton ATPase 116 kDa subunit a isoform 1

Gene

ATP6V0A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 3 (15 Feb 2005)
      Previous versions | rss
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    Functioni

    Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle By similarity.By similarity

    GO - Molecular functioni

    1. ATPase binding Source: UniProtKB
    2. hydrogen ion transmembrane transporter activity Source: InterPro
    3. protein binding Source: HGNC

    GO - Biological processi

    1. ATP hydrolysis coupled proton transport Source: InterPro
    2. cellular iron ion homeostasis Source: Reactome
    3. insulin receptor signaling pathway Source: Reactome
    4. interaction with host Source: Reactome
    5. phagosome maturation Source: Reactome
    6. transferrin transport Source: Reactome
    7. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Hydrogen ion transport, Ion transport, Transport

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000033627-MONOMER.
    ReactomeiREACT_1109. Insulin receptor recycling.
    REACT_121256. Phagosomal maturation (early endosomal stage).
    REACT_25283. Transferrin endocytosis and recycling.

    Protein family/group databases

    TCDBi3.A.2.2.4. the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    V-type proton ATPase 116 kDa subunit a isoform 1
    Short name:
    V-ATPase 116 kDa isoform a1
    Alternative name(s):
    Clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit
    Vacuolar adenosine triphosphatase subunit Ac116
    Vacuolar proton pump subunit 1
    Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1
    Gene namesi
    Name:ATP6V0A1
    Synonyms:ATP6N1, ATP6N1A, VPP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:865. ATP6V0A1.

    Subcellular locationi

    Cytoplasmic vesicle membrane; Multi-pass membrane protein. Melanosome
    Note: Coated vesicle. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. endosome membrane Source: Reactome
    3. extracellular vesicular exosome Source: UniProt
    4. Golgi apparatus Source: HPA
    5. integral component of membrane Source: UniProtKB-KW
    6. intracellular membrane-bounded organelle Source: HPA
    7. melanosome Source: UniProtKB-SubCell
    8. nucleus Source: HPA
    9. phagocytic vesicle membrane Source: Reactome
    10. plasma membrane Source: UniProtKB
    11. vacuolar proton-transporting V-type ATPase, V0 domain Source: InterPro

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25146.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 837837V-type proton ATPase 116 kDa subunit a isoform 1PRO_0000119211Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei364 – 3641PhosphotyrosineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ93050.
    PaxDbiQ93050.
    PRIDEiQ93050.

    PTM databases

    PhosphoSiteiQ93050.

    Expressioni

    Gene expression databases

    ArrayExpressiQ93050.
    BgeeiQ93050.
    CleanExiHS_ATP6V0A1.
    GenevestigatoriQ93050.

    Organism-specific databases

    HPAiHPA022144.

    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''.

    Protein-protein interaction databases

    BioGridi107018. 22 interactions.
    IntActiQ93050. 7 interactions.
    MINTiMINT-3049850.
    STRINGi9606.ENSP00000264649.

    Structurei

    3D structure databases

    ProteinModelPortaliQ93050.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 388388CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini408 – 4092VacuolarSequence Analysis
    Topological domaini427 – 44115CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini472 – 53463VacuolarSequence AnalysisAdd
    BLAST
    Topological domaini555 – 57218CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini594 – 63845VacuolarSequence AnalysisAdd
    BLAST
    Topological domaini659 – 72466CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini750 – 77021VacuolarSequence AnalysisAdd
    BLAST
    Topological domaini810 – 83728CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei389 – 40719HelicalSequence AnalysisAdd
    BLAST
    Transmembranei410 – 42617HelicalSequence AnalysisAdd
    BLAST
    Transmembranei442 – 47130HelicalSequence AnalysisAdd
    BLAST
    Transmembranei535 – 55420HelicalSequence AnalysisAdd
    BLAST
    Transmembranei573 – 59321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei639 – 65820HelicalSequence AnalysisAdd
    BLAST
    Transmembranei725 – 74925HelicalSequence AnalysisAdd
    BLAST
    Transmembranei771 – 80939HelicalSequence 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.
    KOiK02154.
    OMAiVIPRERM.
    OrthoDBiEOG74FF04.
    PhylomeDBiQ93050.
    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.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q93050-2) [UniParc]FASTAAdd to Basket

    Also known as: I

    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

    MGELFRSEEM TLAQLFLQSE AAYCCVSELG ELGKVQFRDL NPDVNVFQRK    50
    FVNEVRRCEE MDRKLRFVEK EIRKANIPIM DTGENPEVPF PRDMIDLEAN 100
    FEKIENELKE INTNQEALKR NFLELTELKF ILRKTQQFFD EMADPDLLEE 150
    SSSLLEPSEM GRGTPLRLGF VAGVINRERI PTFERMLWRV CRGNVFLRQA 200
    EIENPLEDPV TGDYVHKSVF IIFFQGDQLK NRVKKICEGF RASLYPCPET 250
    PQERKEMASG VNTRIDDLQM VLNQTEDHRQ RVLQAAAKNI RVWFIKVRKM 300
    KAIYHTLNLC NIDVTQKCLI AEVWCPVTDL DSIQFALRRG TEHSGSTVPS 350
    ILNRMQTNQT PPTYNKTNKF TYGFQNIVDA YGIGTYREIN PAPYTIITFP 400
    FLFAVMFGDF GHGILMTLFA VWMVLRESRI LSQKNENEMF STVFSGRYII 450
    LLMGVFSMYT GLIYNDCFSK SLNIFGSSWS VRPMFTYNWT EETLRGNPVL 500
    QLNPALPGVF GGPYPFGIDP IWNIATNKLT FLNSFKMKMS VILGIIHMLF 550
    GVSLSLFNHI YFKKPLNIYF GFIPEIIFMT SLFGYLVILI FYKWTAYDAH 600
    TSENAPSLLI HFINMFLFSY PESGYSMLYS GQKGIQCFLV VVALLCVPWM 650
    LLFKPLVLRR QYLRRKHLGT LNFGGIRVGN GPTEEDAEII QHDQLSTHSE 700
    DADEPSEDEV FDFGDTMVHQ AIHTIEYCLG CISNTASYLR LWALSLAHAQ 750
    LSEVLWTMVI HIGLSVKSLA GGLVLFFFFT AFATLTVAIL LIMEGLSAFL 800
    HALRLHWVEF QNKFYSGTGF KFLPFSFEHI REGKFEE 837
    Length:837
    Mass (Da):96,413
    Last modified:February 15, 2005 - v3
    Checksum:i80E4842CF6ADEE44
    GO
    Isoform 2 (identifier: Q93050-1) [UniParc]FASTAAdd to Basket

    Also known as: II

    The sequence of this isoform differs from the canonical sequence as follows:
         705-710: Missing.

    Show »
    Length:831
    Mass (Da):95,756
    Checksum:iB16170B568A3D586
    GO
    Isoform 3 (identifier: Q93050-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         141-141: E → EAELHHQQ
         705-710: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:838
    Mass (Da):96,600
    Checksum:iBE9A648B592B7C67
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti750 – 7512QL → HV in CAA96077. 1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei141 – 1411E → EAELHHQQ in isoform 3. 1 PublicationVSP_043532
    Alternative sequencei705 – 7106Missing in isoform 2 and isoform 3. 3 PublicationsVSP_012814

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z71460 mRNA. Translation: CAA96077.1.
    AK295682 mRNA. Translation: BAH12153.1.
    AK316305 mRNA. Translation: BAH14676.1.
    AC067852 Genomic DNA. No translation available.
    AC107993 Genomic DNA. No translation available.
    CH471152 Genomic DNA. Translation: EAW60830.1.
    BC032398 mRNA. Translation: AAH32398.1.
    AL137683 mRNA. Translation: CAB70874.1.
    CCDSiCCDS11426.1. [Q93050-1]
    CCDS45683.1. [Q93050-3]
    CCDS45684.1. [Q93050-2]
    PIRiT46449.
    RefSeqiNP_001123492.1. NM_001130020.1. [Q93050-3]
    NP_001123493.1. NM_001130021.1. [Q93050-2]
    NP_005168.2. NM_005177.3. [Q93050-1]
    UniGeneiHs.463074.

    Genome annotation databases

    EnsembliENST00000264649; ENSP00000264649; ENSG00000033627. [Q93050-3]
    ENST00000343619; ENSP00000342951; ENSG00000033627. [Q93050-2]
    ENST00000393829; ENSP00000377415; ENSG00000033627. [Q93050-1]
    GeneIDi535.
    KEGGihsa:535.
    UCSCiuc002hzq.3. human. [Q93050-1]
    uc002hzr.3. human. [Q93050-2]
    uc002hzs.3. human. [Q93050-3]

    Polymorphism databases

    DMDMi59803038.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z71460 mRNA. Translation: CAA96077.1 .
    AK295682 mRNA. Translation: BAH12153.1 .
    AK316305 mRNA. Translation: BAH14676.1 .
    AC067852 Genomic DNA. No translation available.
    AC107993 Genomic DNA. No translation available.
    CH471152 Genomic DNA. Translation: EAW60830.1 .
    BC032398 mRNA. Translation: AAH32398.1 .
    AL137683 mRNA. Translation: CAB70874.1 .
    CCDSi CCDS11426.1. [Q93050-1 ]
    CCDS45683.1. [Q93050-3 ]
    CCDS45684.1. [Q93050-2 ]
    PIRi T46449.
    RefSeqi NP_001123492.1. NM_001130020.1. [Q93050-3 ]
    NP_001123493.1. NM_001130021.1. [Q93050-2 ]
    NP_005168.2. NM_005177.3. [Q93050-1 ]
    UniGenei Hs.463074.

    3D structure databases

    ProteinModelPortali Q93050.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107018. 22 interactions.
    IntActi Q93050. 7 interactions.
    MINTi MINT-3049850.
    STRINGi 9606.ENSP00000264649.

    Protein family/group databases

    TCDBi 3.A.2.2.4. the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily.

    PTM databases

    PhosphoSitei Q93050.

    Polymorphism databases

    DMDMi 59803038.

    Proteomic databases

    MaxQBi Q93050.
    PaxDbi Q93050.
    PRIDEi Q93050.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264649 ; ENSP00000264649 ; ENSG00000033627 . [Q93050-3 ]
    ENST00000343619 ; ENSP00000342951 ; ENSG00000033627 . [Q93050-2 ]
    ENST00000393829 ; ENSP00000377415 ; ENSG00000033627 . [Q93050-1 ]
    GeneIDi 535.
    KEGGi hsa:535.
    UCSCi uc002hzq.3. human. [Q93050-1 ]
    uc002hzr.3. human. [Q93050-2 ]
    uc002hzs.3. human. [Q93050-3 ]

    Organism-specific databases

    CTDi 535.
    GeneCardsi GC17P040610.
    H-InvDB HIX0013842.
    HGNCi HGNC:865. ATP6V0A1.
    HPAi HPA022144.
    MIMi 192130. gene.
    neXtProti NX_Q93050.
    PharmGKBi PA25146.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1269.
    HOGENOMi HOG000037059.
    HOVERGENi HBG014606.
    KOi K02154.
    OMAi VIPRERM.
    OrthoDBi EOG74FF04.
    PhylomeDBi Q93050.
    TreeFami TF300346.

    Enzyme and pathway databases

    BioCyci MetaCyc:ENSG00000033627-MONOMER.
    Reactomei REACT_1109. Insulin receptor recycling.
    REACT_121256. Phagosomal maturation (early endosomal stage).
    REACT_25283. Transferrin endocytosis and recycling.

    Miscellaneous databases

    ChiTaRSi ATP6V0A1. human.
    GeneWikii ATPase,_H%2B_transporting,_lysosomal_V0_subunit_a1.
    GenomeRNAii 535.
    NextBioi 2223.
    PROi Q93050.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q93050.
    Bgeei Q93050.
    CleanExi HS_ATP6V0A1.
    Genevestigatori Q93050.

    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. "Sequence and alternative splicing in human 115 kDa subunit of vacuolar-type H(+)-ATPase."
      Fehr C.N., Gillies R.J., Wang H.-Y., Ullrich A.
      Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Pancreas.
    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] (ISOFORM 3).
      Tissue: Hippocampus and Placenta.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1).
      Tissue: Brain.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 675-837 (ISOFORM 2).
      Tissue: Testis.
    7. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.
    8. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.

    Entry informationi

    Entry nameiVPP1_HUMAN
    AccessioniPrimary (citable) accession number: Q93050
    Secondary accession number(s): B7Z3B7, Q8N5G7, Q9NSX0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: February 15, 2005
    Last modified: October 1, 2014
    This is version 131 of the entry and version 3 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 17
      Human chromosome 17: 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