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Q8N8Y2

- VA0D2_HUMAN

UniProt

Q8N8Y2 - VA0D2_HUMAN

Protein

V-type proton ATPase subunit d 2

Gene

ATP6V0D2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis By similarity.By similarity

    GO - Molecular functioni

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

    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:HS07458-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 d 2
    Short name:
    V-ATPase subunit d 2
    Alternative name(s):
    Vacuolar proton pump subunit d 2
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:18266. ATP6V0D2.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. early endosome Source: Ensembl
    3. endosome membrane Source: Reactome
    4. extracellular vesicular exosome Source: UniProt
    5. membrane Source: UniProtKB
    6. phagocytic vesicle membrane Source: Reactome
    7. proton-transporting V-type ATPase, V0 domain Source: InterPro
    8. vacuolar proton-transporting V-type ATPase complex Source: UniProtKB

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38516.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 350350V-type proton ATPase subunit d 2PRO_0000285657Add
    BLAST

    Proteomic databases

    MaxQBiQ8N8Y2.
    PaxDbiQ8N8Y2.
    PRIDEiQ8N8Y2.

    PTM databases

    PhosphoSiteiQ8N8Y2.

    Expressioni

    Tissue specificityi

    Kidney, osteoclast and lung.1 Publication

    Gene expression databases

    ArrayExpressiQ8N8Y2.
    BgeeiQ8N8Y2.
    CleanExiHS_ATP6V0D2.
    GenevestigatoriQ8N8Y2.

    Organism-specific databases

    HPAiHPA055327.
    HPA058496.

    Interactioni

    Subunit structurei

    V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d).

    Protein-protein interaction databases

    BioGridi128858. 5 interactions.
    IntActiQ8N8Y2. 4 interactions.
    STRINGi9606.ENSP00000285393.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N8Y2.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the V-ATPase V0D/AC39 subunit family.Curated

    Phylogenomic databases

    eggNOGiCOG1527.
    HOGENOMiHOG000199065.
    HOVERGENiHBG018065.
    InParanoidiQ8N8Y2.
    KOiK02146.
    OMAiFFTYMTC.
    PhylomeDBiQ8N8Y2.
    TreeFamiTF300857.

    Family and domain databases

    InterProiIPR002843. ATPase_V0-cplx_csu/dsu.
    IPR016727. ATPase_V0-cplx_dsu.
    [Graphical view]
    PANTHERiPTHR11028. PTHR11028. 1 hit.
    PfamiPF01992. vATP-synt_AC39. 1 hit.
    [Graphical view]
    PIRSFiPIRSF018497. V-ATP_synth_D. 1 hit.
    SUPFAMiSSF103486. SSF103486. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q8N8Y2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLEGAELYFN VDHGYLEGLV RGCKASLLTQ QDYINLVQCE TLEDLKIHLQ    50
    TTDYGNFLAN HTNPLTVSKI DTEMRKRLCG EFEYFRNHSL EPLSTFLTYM 100
    TCSYMIDNVI LLMNGALQKK SVKEILGKCH PLGRFTEMEA VNIAETPSDL 150
    FNAILIETPL APFFQDCMSE NALDELNIEL LRNKLYKSYL EAFYKFCKNH 200
    GDVTAEVMCP ILEFEADRRA FIITLNSFGT ELSKEDRETL YPTFGKLYPE 250
    GLRLLAQAED FDQMKNVADH YGVYKPLFEA VGGSGGKTLE DVFYEREVQM 300
    NVLAFNRQFH YGVFYAYVKL KEQEIRNIVW IAECISQRHR TKINSYIPIL 350
    Length:350
    Mass (Da):40,426
    Last modified:October 1, 2002 - v1
    Checksum:i07658C37F2A10CB7
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti272 – 2721G → R.
    Corresponds to variant rs10094744 [ dbSNP | Ensembl ].
    VAR_032039
    Natural varianti295 – 2951E → K.
    Corresponds to variant rs4263741 [ dbSNP | Ensembl ].
    VAR_032040

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY079172 mRNA. Translation: AAL87000.1.
    AK096027 mRNA. Translation: BAC04679.1.
    BC065207 mRNA. Translation: AAH65207.1.
    CCDSiCCDS6241.1.
    RefSeqiNP_689778.1. NM_152565.1.
    UniGeneiHs.436360.

    Genome annotation databases

    EnsembliENST00000285393; ENSP00000285393; ENSG00000147614.
    GeneIDi245972.
    KEGGihsa:245972.
    UCSCiuc003ydp.1. human.

    Polymorphism databases

    DMDMi74729555.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY079172 mRNA. Translation: AAL87000.1 .
    AK096027 mRNA. Translation: BAC04679.1 .
    BC065207 mRNA. Translation: AAH65207.1 .
    CCDSi CCDS6241.1.
    RefSeqi NP_689778.1. NM_152565.1.
    UniGenei Hs.436360.

    3D structure databases

    ProteinModelPortali Q8N8Y2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128858. 5 interactions.
    IntActi Q8N8Y2. 4 interactions.
    STRINGi 9606.ENSP00000285393.

    PTM databases

    PhosphoSitei Q8N8Y2.

    Polymorphism databases

    DMDMi 74729555.

    Proteomic databases

    MaxQBi Q8N8Y2.
    PaxDbi Q8N8Y2.
    PRIDEi Q8N8Y2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000285393 ; ENSP00000285393 ; ENSG00000147614 .
    GeneIDi 245972.
    KEGGi hsa:245972.
    UCSCi uc003ydp.1. human.

    Organism-specific databases

    CTDi 245972.
    GeneCardsi GC08P086999.
    HGNCi HGNC:18266. ATP6V0D2.
    HPAi HPA055327.
    HPA058496.
    neXtProti NX_Q8N8Y2.
    PharmGKBi PA38516.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1527.
    HOGENOMi HOG000199065.
    HOVERGENi HBG018065.
    InParanoidi Q8N8Y2.
    KOi K02146.
    OMAi FFTYMTC.
    PhylomeDBi Q8N8Y2.
    TreeFami TF300857.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS07458-MONOMER.
    Reactomei REACT_1109. Insulin receptor recycling.
    REACT_121256. Phagosomal maturation (early endosomal stage).
    REACT_25283. Transferrin endocytosis and recycling.

    Miscellaneous databases

    GenomeRNAii 245972.
    NextBioi 91831.
    PROi Q8N8Y2.

    Gene expression databases

    ArrayExpressi Q8N8Y2.
    Bgeei Q8N8Y2.
    CleanExi HS_ATP6V0D2.
    Genevestigatori Q8N8Y2.

    Family and domain databases

    InterProi IPR002843. ATPase_V0-cplx_csu/dsu.
    IPR016727. ATPase_V0-cplx_dsu.
    [Graphical view ]
    PANTHERi PTHR11028. PTHR11028. 1 hit.
    Pfami PF01992. vATP-synt_AC39. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF018497. V-ATP_synth_D. 1 hit.
    SUPFAMi SSF103486. SSF103486. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis."
      Smith A.N., Borthwick K.J., Karet F.E.
      Gene 297:169-177(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    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: Kidney.
    3. "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: Colon.

    Entry informationi

    Entry nameiVA0D2_HUMAN
    AccessioniPrimary (citable) accession number: Q8N8Y2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 1, 2007
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 93 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 8
      Human chromosome 8: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3