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Q96LB4

- VATG3_HUMAN

UniProt

Q96LB4 - VATG3_HUMAN

Protein

V-type proton ATPase subunit G 3

Gene

ATP6V1G3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript 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. ATPase binding Source: UniProtKB
    2. 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:HS07734-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 G 3
    Short name:
    V-ATPase subunit G 3
    Alternative name(s):
    V-ATPase 13 kDa subunit 3
    Vacuolar proton pump subunit G 3
    Gene namesi
    Name:ATP6V1G3
    Synonyms:ATP6G3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:18265. ATP6V1G3.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. plasma membrane Source: UniProtKB
    3. vacuolar proton-transporting V-type ATPase complex Source: InterPro

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38515.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 118118V-type proton ATPase subunit G 3PRO_0000192904Add
    BLAST

    Proteomic databases

    PaxDbiQ96LB4.
    PRIDEiQ96LB4.

    PTM databases

    PhosphoSiteiQ96LB4.

    Expressioni

    Tissue specificityi

    Kidney.1 Publication

    Gene expression databases

    BgeeiQ96LB4.
    CleanExiHS_ATP6V1G3.
    GenevestigatoriQ96LB4.

    Organism-specific databases

    HPAiHPA028701.

    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

    Protein-protein interaction databases

    STRINGi9606.ENSP00000281087.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96LB4.
    SMRiQ96LB4. Positions 3-81.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili5 – 5450Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the V-ATPase G subunit family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG235870.
    HOGENOMiHOG000186416.
    HOVERGENiHBG057827.
    KOiK02152.
    OMAiHDEEFAT.
    OrthoDBiEOG7MWH0X.
    PhylomeDBiQ96LB4.
    TreeFamiTF313777.

    Family and domain databases

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

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96LB4-1) [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

    MTSQSQGIHQ LLQAEKRAKD KLEEAKKRKG KRLKQAKEEA MVEIDQYRMQ    50
    RDKEFRLKQS KIMGSQNNLS DEIEEQTLGK IQELNGHYNK YMESVMNQLL 100
    SMVCDMKPEI HVNYRATN 118
    Length:118
    Mass (Da):13,917
    Last modified:December 1, 2001 - v1
    Checksum:i651F8F5497164754
    GO
    Isoform 2 (identifier: Q96LB4-2)

    Sequence is not available
    Length:
    Mass (Da):
    Isoform 3 (identifier: Q96LB4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         28-118: RKGKRLKQAK...EIHVNYRATN → ILHLLFLKRRDWDCFWKRKAIEASQGGSNGRN

    Show »
    Length:59
    Mass (Da):6,895
    Checksum:i2EDA379DF6385E11
    GO
    Isoform 4 (identifier: Q96LB4-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         28-28: R → KTGTASG

    Note: No experimental confirmation available.

    Show »
    Length:124
    Mass (Da):14,363
    Checksum:iE80336A5FFDF483A
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541E → Q.
    Corresponds to variant rs16843254 [ dbSNP | Ensembl ].
    VAR_048343

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei28 – 11891RKGKR…YRATN → ILHLLFLKRRDWDCFWKRKA IEASQGGSNGRN in isoform 3. 1 PublicationVSP_036423Add
    BLAST
    Alternative sequencei28 – 281R → KTGTASG in isoform 4. 1 PublicationVSP_036426

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY039760 mRNA. Translation: AAK83465.1.
    AL157402 Genomic DNA. Translation: CAI15638.1.
    BC101129 mRNA. Translation: AAI01130.1.
    BC101130 mRNA. Translation: AAI01131.1.
    BC101131 mRNA. Translation: AAI01132.2.
    CCDSiCCDS1395.1. [Q96LB4-1]
    CCDS1396.1. [Q96LB4-3]
    RefSeqiNP_573569.1. NM_133262.2. [Q96LB4-1]
    NP_579872.1. NM_133326.1. [Q96LB4-3]
    XP_006711226.1. XM_006711163.1. [Q96LB4-1]
    XP_006725021.1. XM_006724958.1. [Q96LB4-1]
    UniGeneiHs.127743.

    Genome annotation databases

    EnsembliENST00000281087; ENSP00000281087; ENSG00000151418. [Q96LB4-1]
    ENST00000309309; ENSP00000309574; ENSG00000151418. [Q96LB4-3]
    ENST00000367381; ENSP00000356351; ENSG00000263014. [Q96LB4-4]
    ENST00000367382; ENSP00000356352; ENSG00000151418. [Q96LB4-1]
    ENST00000489986; ENSP00000417171; ENSG00000151418. [Q96LB4-4]
    ENST00000571439; ENSP00000461616; ENSG00000263014. [Q96LB4-3]
    ENST00000573121; ENSP00000461329; ENSG00000263014. [Q96LB4-1]
    ENST00000575971; ENSP00000461228; ENSG00000263014. [Q96LB4-4]
    GeneIDi127124.
    KEGGihsa:127124.
    UCSCiuc001guo.3. human. [Q96LB4-3]
    uc001gup.3. human. [Q96LB4-1]
    uc009wzd.3. human. [Q96LB4-4]

    Polymorphism databases

    DMDMi20140697.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY039760 mRNA. Translation: AAK83465.1 .
    AL157402 Genomic DNA. Translation: CAI15638.1 .
    BC101129 mRNA. Translation: AAI01130.1 .
    BC101130 mRNA. Translation: AAI01131.1 .
    BC101131 mRNA. Translation: AAI01132.2 .
    CCDSi CCDS1395.1. [Q96LB4-1 ]
    CCDS1396.1. [Q96LB4-3 ]
    RefSeqi NP_573569.1. NM_133262.2. [Q96LB4-1 ]
    NP_579872.1. NM_133326.1. [Q96LB4-3 ]
    XP_006711226.1. XM_006711163.1. [Q96LB4-1 ]
    XP_006725021.1. XM_006724958.1. [Q96LB4-1 ]
    UniGenei Hs.127743.

    3D structure databases

    ProteinModelPortali Q96LB4.
    SMRi Q96LB4. Positions 3-81.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000281087.

    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 Q96LB4.

    Polymorphism databases

    DMDMi 20140697.

    Proteomic databases

    PaxDbi Q96LB4.
    PRIDEi Q96LB4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000281087 ; ENSP00000281087 ; ENSG00000151418 . [Q96LB4-1 ]
    ENST00000309309 ; ENSP00000309574 ; ENSG00000151418 . [Q96LB4-3 ]
    ENST00000367381 ; ENSP00000356351 ; ENSG00000263014 . [Q96LB4-4 ]
    ENST00000367382 ; ENSP00000356352 ; ENSG00000151418 . [Q96LB4-1 ]
    ENST00000489986 ; ENSP00000417171 ; ENSG00000151418 . [Q96LB4-4 ]
    ENST00000571439 ; ENSP00000461616 ; ENSG00000263014 . [Q96LB4-3 ]
    ENST00000573121 ; ENSP00000461329 ; ENSG00000263014 . [Q96LB4-1 ]
    ENST00000575971 ; ENSP00000461228 ; ENSG00000263014 . [Q96LB4-4 ]
    GeneIDi 127124.
    KEGGi hsa:127124.
    UCSCi uc001guo.3. human. [Q96LB4-3 ]
    uc001gup.3. human. [Q96LB4-1 ]
    uc009wzd.3. human. [Q96LB4-4 ]

    Organism-specific databases

    CTDi 127124.
    GeneCardsi GC01M198492.
    HGNCi HGNC:18265. ATP6V1G3.
    HPAi HPA028701.
    neXtProti NX_Q96LB4.
    PharmGKBi PA38515.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG235870.
    HOGENOMi HOG000186416.
    HOVERGENi HBG057827.
    KOi K02152.
    OMAi HDEEFAT.
    OrthoDBi EOG7MWH0X.
    PhylomeDBi Q96LB4.
    TreeFami TF313777.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS07734-MONOMER.
    Reactomei REACT_1109. Insulin receptor recycling.
    REACT_121256. Phagosomal maturation (early endosomal stage).
    REACT_25283. Transferrin endocytosis and recycling.

    Miscellaneous databases

    GeneWikii ATP6V1G3.
    GenomeRNAii 127124.
    NextBioi 82029.
    PROi Q96LB4.

    Gene expression databases

    Bgeei Q96LB4.
    CleanExi HS_ATP6V1G3.
    Genevestigatori Q96LB4.

    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. "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 1), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [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] (ISOFORMS 1; 3 AND 4).

    Entry informationi

    Entry nameiVATG3_HUMAN
    AccessioniPrimary (citable) accession number: Q96LB4
    Secondary accession number(s): Q495K2, Q495K4, Q5T9L6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 31, 2002
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 105 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 1
      Human chromosome 1: 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