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Q8NEY4

- VATC2_HUMAN

UniProt

Q8NEY4 - VATC2_HUMAN

Protein

V-type proton ATPase subunit C 2

Gene

ATP6V1C2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 2 (01 May 2007)
      Previous versions | rss
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    Functioni

    Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

    GO - Molecular functioni

    1. hydrogen-exporting ATPase activity, phosphorylative mechanism Source: Ensembl
    2. protein dimerization activity Source: UniProt

    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. positive regulation of Wnt signaling pathway Source: UniProt
    7. transferrin transport Source: Reactome
    8. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Hydrogen ion transport, Ion transport, Transport

    Enzyme and pathway databases

    BioCyciMetaCyc:HS07123-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 subunit C 2
    Short name:
    V-ATPase subunit C 2
    Alternative name(s):
    Vacuolar proton pump subunit C 2
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:18264. ATP6V1C2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. extracellular vesicular exosome Source: UniProt
    3. lysosomal membrane Source: UniProtKB
    4. proton-transporting V-type ATPase, V1 domain Source: InterPro

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38514.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 427427V-type proton ATPase subunit C 2PRO_0000285669Add
    BLAST

    Proteomic databases

    MaxQBiQ8NEY4.
    PaxDbiQ8NEY4.
    PRIDEiQ8NEY4.

    PTM databases

    PhosphoSiteiQ8NEY4.

    Expressioni

    Tissue specificityi

    Kidney and placenta.1 Publication

    Gene expression databases

    BgeeiQ8NEY4.
    CleanExiHS_ATP6V1C2.
    GenevestigatoriQ8NEY4.

    Organism-specific databases

    HPAiHPA034734.
    HPA034735.

    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

    IntActiQ8NEY4. 2 interactions.
    STRINGi9606.ENSP00000272238.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NEY4.
    SMRiQ8NEY4. Positions 7-383.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the V-ATPase C subunit family.Curated

    Phylogenomic databases

    eggNOGiCOG5127.
    HOGENOMiHOG000207528.
    HOVERGENiHBG002470.
    InParanoidiQ8NEY4.
    KOiK02148.
    OMAiFMVREFY.
    OrthoDBiEOG7QNVKX.
    PhylomeDBiQ8NEY4.
    TreeFamiTF314912.

    Family and domain databases

    InterProiIPR004907. ATPase_V1-cplx_csu.
    [Graphical view]
    PANTHERiPTHR10137. PTHR10137. 1 hit.
    PfamiPF03223. V-ATPase_C. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NEY4-1) [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

    MSEFWLISAP GDKENLQALE RMNTVTSKSN LSYNTKFAIP DFKVGTLDSL    50
    VGLSDELGKL DTFAESLIRR MAQSVVEVME DSKGKVQEHL LANGVDLTSF 100
    VTHFEWDMAK YPVKQPLVSV VDTIAKQLAQ IEMDLKSRTA AYNTLKTNLE 150
    NLEKKSMGNL FTRTLSDIVS KEDFVLDSEY LVTLLVIVPK PNYSQWQKTY 200
    ESLSDMVVPR STKLITEDKE GGLFTVTLFR KVIEDFKTKA KENKFTVREF 250
    YYDEKEIERE REEMARLLSD KKQQYQTSCV ALKKGSSTFP DHKVKVTPLG 300
    NPDRPAAGQT DRERESEGEG EGPLLRWLKV NFSEAFIAWI HIKALRVFVE 350
    SVLRYGLPVN FQAVLLQPHK KSSTKRLREV LNSVFRHLDE VAATSILDAS 400
    VEIPGLQLNN QDYFPYVYFH IDLSLLD 427
    Length:427
    Mass (Da):48,759
    Last modified:May 1, 2007 - v2
    Checksum:i7ED699EDD49CBC96
    GO
    Isoform 2 (identifier: Q8NEY4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         276-321: Missing.

    Show »
    Length:381
    Mass (Da):43,865
    Checksum:iD59165C7BBA67C89
    GO

    Sequence cautioni

    The sequence AAY24069.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti143 – 1431N → D.1 Publication
    Corresponds to variant rs1198849 [ dbSNP | Ensembl ].
    VAR_032041

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei276 – 32146Missing in isoform 2. 2 PublicationsVSP_024883Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY039759 mRNA. Translation: AAK83464.1.
    AC092687 Genomic DNA. Translation: AAY24069.1. Sequence problems.
    BC012142 mRNA. Translation: AAH12142.1.
    CCDSiCCDS1674.1. [Q8NEY4-2]
    CCDS42653.1. [Q8NEY4-1]
    RefSeqiNP_001034451.1. NM_001039362.1. [Q8NEY4-1]
    NP_653184.2. NM_144583.3. [Q8NEY4-2]
    UniGeneiHs.580464.

    Genome annotation databases

    EnsembliENST00000272238; ENSP00000272238; ENSG00000143882. [Q8NEY4-1]
    ENST00000381661; ENSP00000371077; ENSG00000143882. [Q8NEY4-2]
    GeneIDi245973.
    KEGGihsa:245973.
    UCSCiuc002ras.3. human. [Q8NEY4-1]
    uc002rat.3. human. [Q8NEY4-2]

    Polymorphism databases

    DMDMi146325814.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY039759 mRNA. Translation: AAK83464.1 .
    AC092687 Genomic DNA. Translation: AAY24069.1 . Sequence problems.
    BC012142 mRNA. Translation: AAH12142.1 .
    CCDSi CCDS1674.1. [Q8NEY4-2 ]
    CCDS42653.1. [Q8NEY4-1 ]
    RefSeqi NP_001034451.1. NM_001039362.1. [Q8NEY4-1 ]
    NP_653184.2. NM_144583.3. [Q8NEY4-2 ]
    UniGenei Hs.580464.

    3D structure databases

    ProteinModelPortali Q8NEY4.
    SMRi Q8NEY4. Positions 7-383.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q8NEY4. 2 interactions.
    STRINGi 9606.ENSP00000272238.

    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 Q8NEY4.

    Polymorphism databases

    DMDMi 146325814.

    Proteomic databases

    MaxQBi Q8NEY4.
    PaxDbi Q8NEY4.
    PRIDEi Q8NEY4.

    Protocols and materials databases

    DNASUi 245973.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000272238 ; ENSP00000272238 ; ENSG00000143882 . [Q8NEY4-1 ]
    ENST00000381661 ; ENSP00000371077 ; ENSG00000143882 . [Q8NEY4-2 ]
    GeneIDi 245973.
    KEGGi hsa:245973.
    UCSCi uc002ras.3. human. [Q8NEY4-1 ]
    uc002rat.3. human. [Q8NEY4-2 ]

    Organism-specific databases

    CTDi 245973.
    GeneCardsi GC02P010861.
    HGNCi HGNC:18264. ATP6V1C2.
    HPAi HPA034734.
    HPA034735.
    neXtProti NX_Q8NEY4.
    PharmGKBi PA38514.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5127.
    HOGENOMi HOG000207528.
    HOVERGENi HBG002470.
    InParanoidi Q8NEY4.
    KOi K02148.
    OMAi FMVREFY.
    OrthoDBi EOG7QNVKX.
    PhylomeDBi Q8NEY4.
    TreeFami TF314912.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS07123-MONOMER.
    Reactomei REACT_1109. Insulin receptor recycling.
    REACT_121256. Phagosomal maturation (early endosomal stage).
    REACT_25283. Transferrin endocytosis and recycling.

    Miscellaneous databases

    ChiTaRSi ATP6V1C2. human.
    GeneWikii ATP6V1C2.
    GenomeRNAii 245973.
    NextBioi 91835.
    PROi Q8NEY4.

    Gene expression databases

    Bgeei Q8NEY4.
    CleanExi HS_ATP6V1C2.
    Genevestigatori Q8NEY4.

    Family and domain databases

    InterProi IPR004907. ATPase_V1-cplx_csu.
    [Graphical view ]
    PANTHERi PTHR10137. PTHR10137. 1 hit.
    Pfami PF03223. V-ATPase_C. 1 hit.
    [Graphical view ]
    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] (ISOFORM 2), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORM 2), VARIANT ASP-143.
      Tissue: Eye.

    Entry informationi

    Entry nameiVATC2_HUMAN
    AccessioniPrimary (citable) accession number: Q8NEY4
    Secondary accession number(s): Q96EL8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 1, 2007
    Last sequence update: May 1, 2007
    Last modified: October 1, 2014
    This is version 97 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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