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O95670

- VATG2_HUMAN

UniProt

O95670 - VATG2_HUMAN

Protein

V-type proton ATPase subunit G 2

Gene

ATP6V1G2

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

    Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). 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

    GO - Biological processi

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

    Keywords - Biological processi

    Hydrogen ion transport, Ion transport, Transport

    Enzyme and pathway databases

    BioCyciMetaCyc:HS10685-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 G 2
    Short name:
    V-ATPase subunit G 2
    Alternative name(s):
    V-ATPase 13 kDa subunit 2
    Vacuolar proton pump subunit G 2
    Gene namesi
    Name:ATP6V1G2
    Synonyms:ATP6G, ATP6G2, NG38
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:862. ATP6V1G2.

    Subcellular locationi

    Melanosome 1 Publication
    Note: Highly enriched in late-stage melanosomes.

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. integral component of synaptic vesicle membrane Source: Ensembl
    3. melanosome Source: UniProtKB-SubCell
    4. vacuolar proton-transporting V-type ATPase complex Source: Ensembl

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25164.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 118118V-type proton ATPase subunit G 2PRO_0000192900Add
    BLAST

    Proteomic databases

    PaxDbiO95670.
    PRIDEiO95670.

    PTM databases

    PhosphoSiteiO95670.

    Expressioni

    Tissue specificityi

    Brain.1 Publication

    Gene expression databases

    ArrayExpressiO95670.
    BgeeiO95670.
    CleanExiHS_ATP6V1G2.
    GenevestigatoriO95670.

    Organism-specific databases

    HPAiCAB004616.

    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).By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ATP6V1E1P365431EBI-348290,EBI-348639

    Protein-protein interaction databases

    BioGridi107017. 3 interactions.
    IntActiO95670. 3 interactions.
    MINTiMINT-1035852.
    STRINGi9606.ENSP00000372995.

    Structurei

    3D structure databases

    ProteinModelPortaliO95670.
    SMRiO95670. Positions 1-107.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the V-ATPase G subunit family.Curated

    Phylogenomic databases

    eggNOGiNOG238684.
    HOGENOMiHOG000186416.
    HOVERGENiHBG057827.
    InParanoidiO95670.
    KOiK02152.
    OMAiHPNYRIT.
    OrthoDBiEOG7MWH0X.
    PhylomeDBiO95670.
    TreeFamiTF313777.

    Family and domain databases

    InterProiIPR005124. V-ATPase_G.
    [Graphical view]
    PANTHERiPTHR12713. PTHR12713. 1 hit.
    TIGRFAMsiTIGR01147. V_ATP_synt_G. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95670-1) [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

    MASQSQGIQQ LLQAEKRAAE KVADARKRKA RRLKQAKEEA QMEVEQYRRE    50
    REHEFQSKQQ AAMGSQGNLS AEVEQATRRQ VQGMQSSQQR NRERVLAQLL 100
    GMVCDVRPQV HPNYRISA 118
    Length:118
    Mass (Da):13,604
    Last modified:May 1, 1999 - v1
    Checksum:i5D46EEE0C8D7657D
    GO
    Isoform 2 (identifier: O95670-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         35-74: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:78
    Mass (Da):8,954
    Checksum:iC58F9F6252E8076A
    GO
    Isoform 3 (identifier: O95670-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-41: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:77
    Mass (Da):8,972
    Checksum:iA22322E87147DFE7
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti52 – 521E → D in AA401769. 1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4141Missing in isoform 3. 1 PublicationVSP_047411Add
    BLAST
    Alternative sequencei35 – 7440Missing in isoform 2. 1 PublicationVSP_045909Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y14768 Genomic DNA. Translation: CAA75073.1.
    AB063177 Genomic DNA. Translation: BAC00863.1.
    AB102692 Genomic DNA. Translation: BAD74058.1.
    AB097672 Genomic DNA. Translation: BAD74057.1.
    BA000025 Genomic DNA. Translation: BAB63399.1.
    AB088115 Genomic DNA. Translation: BAC54952.1.
    AL662801 Genomic DNA. Translation: CAI18287.1.
    AL662847 Genomic DNA. Translation: CAI17673.1.
    BX001040 Genomic DNA. Translation: CAI18639.2.
    BX001040 Genomic DNA. Translation: CAI18640.1.
    BX248516 Genomic DNA. Translation: CAI41929.1.
    BX248516 Genomic DNA. Translation: CAI41930.1.
    CR753892 Genomic DNA. Translation: CAQ06925.1.
    CR753892 Genomic DNA. Translation: CAQ06926.1.
    BX927320 Genomic DNA. Translation: CAQ09987.1.
    BX927320 Genomic DNA. Translation: CAQ09988.1.
    CR753864 Genomic DNA. Translation: CAQ10647.1.
    CR753864 Genomic DNA. Translation: CAQ10648.1.
    CR753820 Genomic DNA. No translation available.
    CR942185 Genomic DNA. No translation available.
    CH471081 Genomic DNA. Translation: EAX03414.1.
    CH471081 Genomic DNA. Translation: EAX03416.1.
    AB202112 Genomic DNA. Translation: BAE78636.1.
    AB103621 Genomic DNA. Translation: BAF31286.1.
    BC047791 mRNA. No translation available.
    BC119726 mRNA. Translation: AAI19727.1.
    BC119727 mRNA. Translation: AAI19728.1.
    AA401769 mRNA. No translation available.
    CCDSiCCDS4698.1. [O95670-1]
    CCDS4699.1. [O95670-3]
    CCDS56413.1. [O95670-2]
    RefSeqiNP_001191007.1. NM_001204078.1. [O95670-2]
    NP_569730.1. NM_130463.3. [O95670-1]
    NP_612139.1. NM_138282.2. [O95670-3]
    UniGeneiHs.249227.

    Genome annotation databases

    EnsembliENST00000303892; ENSP00000302194; ENSG00000213760. [O95670-1]
    ENST00000376151; ENSP00000365321; ENSG00000213760. [O95670-2]
    ENST00000383503; ENSP00000372995; ENSG00000206445. [O95670-1]
    ENST00000421596; ENSP00000406575; ENSG00000234668. [O95670-2]
    ENST00000434217; ENSP00000406668; ENSG00000226850. [O95670-2]
    ENST00000441959; ENSP00000395436; ENSG00000227587. [O95670-1]
    ENST00000443657; ENSP00000416031; ENSG00000227587. [O95670-2]
    ENST00000444088; ENSP00000406389; ENSG00000234920. [O95670-1]
    ENST00000447174; ENSP00000403158; ENSG00000230900. [O95670-2]
    ENST00000448779; ENSP00000409104; ENSG00000234920. [O95670-2]
    ENST00000449748; ENSP00000406372; ENSG00000226850. [O95670-1]
    ENST00000452453; ENSP00000402430; ENSG00000206445. [O95670-2]
    ENST00000454370; ENSP00000413222; ENSG00000234668. [O95670-1]
    ENST00000454889; ENSP00000408670; ENSG00000230900. [O95670-1]
    ENST00000483251; ENSP00000419698; ENSG00000213760. [O95670-3]
    GeneIDi534.
    KEGGihsa:534.
    UCSCiuc003ntz.3. human. [O95670-1]
    uc021yur.1. human.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y14768 Genomic DNA. Translation: CAA75073.1 .
    AB063177 Genomic DNA. Translation: BAC00863.1 .
    AB102692 Genomic DNA. Translation: BAD74058.1 .
    AB097672 Genomic DNA. Translation: BAD74057.1 .
    BA000025 Genomic DNA. Translation: BAB63399.1 .
    AB088115 Genomic DNA. Translation: BAC54952.1 .
    AL662801 Genomic DNA. Translation: CAI18287.1 .
    AL662847 Genomic DNA. Translation: CAI17673.1 .
    BX001040 Genomic DNA. Translation: CAI18639.2 .
    BX001040 Genomic DNA. Translation: CAI18640.1 .
    BX248516 Genomic DNA. Translation: CAI41929.1 .
    BX248516 Genomic DNA. Translation: CAI41930.1 .
    CR753892 Genomic DNA. Translation: CAQ06925.1 .
    CR753892 Genomic DNA. Translation: CAQ06926.1 .
    BX927320 Genomic DNA. Translation: CAQ09987.1 .
    BX927320 Genomic DNA. Translation: CAQ09988.1 .
    CR753864 Genomic DNA. Translation: CAQ10647.1 .
    CR753864 Genomic DNA. Translation: CAQ10648.1 .
    CR753820 Genomic DNA. No translation available.
    CR942185 Genomic DNA. No translation available.
    CH471081 Genomic DNA. Translation: EAX03414.1 .
    CH471081 Genomic DNA. Translation: EAX03416.1 .
    AB202112 Genomic DNA. Translation: BAE78636.1 .
    AB103621 Genomic DNA. Translation: BAF31286.1 .
    BC047791 mRNA. No translation available.
    BC119726 mRNA. Translation: AAI19727.1 .
    BC119727 mRNA. Translation: AAI19728.1 .
    AA401769 mRNA. No translation available.
    CCDSi CCDS4698.1. [O95670-1 ]
    CCDS4699.1. [O95670-3 ]
    CCDS56413.1. [O95670-2 ]
    RefSeqi NP_001191007.1. NM_001204078.1. [O95670-2 ]
    NP_569730.1. NM_130463.3. [O95670-1 ]
    NP_612139.1. NM_138282.2. [O95670-3 ]
    UniGenei Hs.249227.

    3D structure databases

    ProteinModelPortali O95670.
    SMRi O95670. Positions 1-107.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107017. 3 interactions.
    IntActi O95670. 3 interactions.
    MINTi MINT-1035852.
    STRINGi 9606.ENSP00000372995.

    PTM databases

    PhosphoSitei O95670.

    Proteomic databases

    PaxDbi O95670.
    PRIDEi O95670.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303892 ; ENSP00000302194 ; ENSG00000213760 . [O95670-1 ]
    ENST00000376151 ; ENSP00000365321 ; ENSG00000213760 . [O95670-2 ]
    ENST00000383503 ; ENSP00000372995 ; ENSG00000206445 . [O95670-1 ]
    ENST00000421596 ; ENSP00000406575 ; ENSG00000234668 . [O95670-2 ]
    ENST00000434217 ; ENSP00000406668 ; ENSG00000226850 . [O95670-2 ]
    ENST00000441959 ; ENSP00000395436 ; ENSG00000227587 . [O95670-1 ]
    ENST00000443657 ; ENSP00000416031 ; ENSG00000227587 . [O95670-2 ]
    ENST00000444088 ; ENSP00000406389 ; ENSG00000234920 . [O95670-1 ]
    ENST00000447174 ; ENSP00000403158 ; ENSG00000230900 . [O95670-2 ]
    ENST00000448779 ; ENSP00000409104 ; ENSG00000234920 . [O95670-2 ]
    ENST00000449748 ; ENSP00000406372 ; ENSG00000226850 . [O95670-1 ]
    ENST00000452453 ; ENSP00000402430 ; ENSG00000206445 . [O95670-2 ]
    ENST00000454370 ; ENSP00000413222 ; ENSG00000234668 . [O95670-1 ]
    ENST00000454889 ; ENSP00000408670 ; ENSG00000230900 . [O95670-1 ]
    ENST00000483251 ; ENSP00000419698 ; ENSG00000213760 . [O95670-3 ]
    GeneIDi 534.
    KEGGi hsa:534.
    UCSCi uc003ntz.3. human. [O95670-1 ]
    uc021yur.1. human.

    Organism-specific databases

    CTDi 534.
    GeneCardsi GC06M031512.
    GC06Mj31499.
    GC06Mk31494.
    GC06Ml31551.
    GC06Mm31588.
    GC06Mn31502.
    GC06Mo31502.
    HGNCi HGNC:862. ATP6V1G2.
    HPAi CAB004616.
    MIMi 606853. gene.
    neXtProti NX_O95670.
    PharmGKBi PA25164.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238684.
    HOGENOMi HOG000186416.
    HOVERGENi HBG057827.
    InParanoidi O95670.
    KOi K02152.
    OMAi HPNYRIT.
    OrthoDBi EOG7MWH0X.
    PhylomeDBi O95670.
    TreeFami TF313777.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS10685-MONOMER.
    Reactomei REACT_1109. Insulin receptor recycling.
    REACT_121256. Phagosomal maturation (early endosomal stage).
    REACT_25283. Transferrin endocytosis and recycling.

    Miscellaneous databases

    GeneWikii ATP6V1G2.
    GenomeRNAii 534.
    NextBioi 2217.
    PROi O95670.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95670.
    Bgeei O95670.
    CleanExi HS_ATP6V1G2.
    Genevestigatori O95670.

    Family and domain databases

    InterProi IPR005124. V-ATPase_G.
    [Graphical view ]
    PANTHERi PTHR12713. PTHR12713. 1 hit.
    TIGRFAMsi TIGR01147. V_ATP_synt_G. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "A new member of the Ig superfamily and a V-ATPase G subunit are among the predicted products of novel genes close to the TNF locus in the human MHC."
      Neville M.J., Campbell R.D.
      J. Immunol. 162:4745-4754(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Genomic structure of human ATP6G gene."
      Iida A., Kondo K., Mishima C., Nakamura Y.
      Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Brain.
    3. "Polymorphism of ATP6G."
      Shichi D., Naruse T., Nakashima M., Kikkawa E., Ota M., Katsuyama Y., Kimura A., Matsumori A., Inoko H.
      Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region."
      Shiina S., Tamiya G., Oka A., Inoko H.
      Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Genome diversity in HLA: a new strategy for detection of genetic polymorphisms in expressed genes within the HLA class III and class I regions."
      Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H.
      Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity."
      Shiina T., Ota M., Shimizu S., Katsuyama Y., Hashimoto N., Takasu M., Anzai T., Kulski J.K., Kikkawa E., Naruse T., Kimura N., Yanagiya K., Watanabe A., Hosomichi K., Kohara S., Iwamoto C., Umehara Y., Meyer A.
      , Wanner V., Sano K., Macquin C., Ikeo K., Tokunaga K., Gojobori T., Inoko H., Bahram S.
      Genetics 173:1555-1570(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Tissue: Peripheral blood leukocyte.
    9. "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] (ISOFORMS 1 AND 2).
      Tissue: Leiomyosarcoma.
    10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-75 (ISOFORM 3).
    11. "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: TISSUE SPECIFICITY.
    12. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.

    Entry informationi

    Entry nameiVATG2_HUMAN
    AccessioniPrimary (citable) accession number: O95670
    Secondary accession number(s): B5MEF0
    , Q2L6F8, Q5HYU8, Q5RJ63
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 127 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 6
      Human chromosome 6: 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