Full text data of ATP6V1G2
ATP6V1G2
(ATP6G, ATP6G2, NG38)
[Confidence: low (only semi-automatic identification from reviews)]
V-type proton ATPase subunit G 2; V-ATPase subunit G 2 (V-ATPase 13 kDa subunit 2; Vacuolar proton pump subunit G 2)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
V-type proton ATPase subunit G 2; V-ATPase subunit G 2 (V-ATPase 13 kDa subunit 2; Vacuolar proton pump subunit G 2)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
O95670
ID VATG2_HUMAN Reviewed; 118 AA.
AC O95670; B5MEF0; Q2L6F8; Q5HYU8; Q5RJ63;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAY-1999, sequence version 1.
DT 22-JAN-2014, entry version 120.
DE RecName: Full=V-type proton ATPase subunit G 2;
DE Short=V-ATPase subunit G 2;
DE AltName: Full=V-ATPase 13 kDa subunit 2;
DE AltName: Full=Vacuolar proton pump subunit G 2;
GN Name=ATP6V1G2; Synonyms=ATP6G, ATP6G2, NG38;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10202016;
RA Neville M.J., Campbell R.D.;
RT "A new member of the Ig superfamily and a V-ATPase G subunit are among
RT the predicted products of novel genes close to the TNF locus in the
RT human MHC.";
RL J. Immunol. 162:4745-4754(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Brain;
RA Iida A., Kondo K., Mishima C., Nakamura Y.;
RT "Genomic structure of human ATP6G gene.";
RL Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Shichi D., Naruse T., Nakashima M., Kikkawa E., Ota M., Katsuyama Y.,
RA Kimura A., Matsumori A., Inoko H.;
RT "Polymorphism of ATP6G.";
RL Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Shiina S., Tamiya G., Oka A., Inoko H.;
RT "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H.;
RT "Genome diversity in HLA: a new strategy for detection of genetic
RT polymorphisms in expressed genes within the HLA class III and class I
RT regions.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
RA Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
RA Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
RA Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
RA Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
RA Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
RA Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
RA Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
RA Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
RA Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
RA Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
RA Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
RA Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
RA Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
RA McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
RA Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
RA Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
RA Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
RA Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
RA Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
RA Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
RA Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
RA Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
RA Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
RA Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC TISSUE=Peripheral blood leukocyte;
RX PubMed=16702430; DOI=10.1534/genetics.106.057034;
RA Shiina T., Ota M., Shimizu S., Katsuyama Y., Hashimoto N., Takasu M.,
RA Anzai T., Kulski J.K., Kikkawa E., Naruse T., Kimura N., Yanagiya K.,
RA Watanabe A., Hosomichi K., Kohara S., Iwamoto C., Umehara Y.,
RA Meyer A., Wanner V., Sano K., Macquin C., Ikeo K., Tokunaga K.,
RA Gojobori T., Inoko H., Bahram S.;
RT "Rapid evolution of major histocompatibility complex class I genes in
RT primates generates new disease alleles in humans via hitchhiking
RT diversity.";
RL Genetics 173:1555-1570(2006).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Leiomyosarcoma;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-75 (ISOFORM 3).
RA Hillier L., Clark N., Dubuque T., Elliston K., Hawkins M., Holman M.,
RA Hultman M., Kucaba T., Le M., Lennon G., Marra M., Parsons J.,
RA Rifkin L., Rohlfing T., Soares M., Tan F., Trevaskis E., Waterston R.,
RA Williamson A., Wohldmann P., Wilson R.;
RT "The WashU-Merck EST project.";
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP TISSUE SPECIFICITY.
RX PubMed=12384298; DOI=10.1016/S0378-1119(02)00884-3;
RA Smith A.N., Borthwick K.J., Karet F.E.;
RT "Molecular cloning and characterization of novel tissue-specific
RT isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and
RT their evaluation in autosomal recessive distal renal tubular
RT acidosis.";
RL Gene 297:169-177(2002).
RN [12]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RC TISSUE=Melanoma;
RX PubMed=17081065; DOI=10.1021/pr060363j;
RA Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H.,
RA Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R.,
RA Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E.,
RA Hunt D.F.;
RT "Proteomic and bioinformatic characterization of the biogenesis and
RT function of melanosomes.";
RL J. Proteome Res. 5:3135-3144(2006).
CC -!- FUNCTION: Catalytic subunit of the peripheral V1 complex of
CC vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying
CC a variety of intracellular compartments in eukaryotic cells.
CC -!- SUBUNIT: V-ATPase is a heteromultimeric enzyme composed of a
CC peripheral catalytic V1 complex (components A to H) attached to an
CC integral membrane V0 proton pore complex (components: a, c, c',
CC c'' and d) (By similarity).
CC -!- INTERACTION:
CC P36543:ATP6V1E1; NbExp=1; IntAct=EBI-348290, EBI-348639;
CC -!- SUBCELLULAR LOCATION: Melanosome. Note=Highly enriched in late-
CC stage melanosomes.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O95670-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95670-2; Sequence=VSP_045909;
CC Note=No experimental confirmation available;
CC Name=3;
CC IsoId=O95670-3; Sequence=VSP_047411;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Brain.
CC -!- SIMILARITY: Belongs to the V-ATPase G subunit family.
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DR EMBL; Y14768; CAA75073.1; -; Genomic_DNA.
DR EMBL; AB063177; BAC00863.1; -; Genomic_DNA.
DR EMBL; AB102692; BAD74058.1; -; Genomic_DNA.
DR EMBL; AB097672; BAD74057.1; -; Genomic_DNA.
DR EMBL; BA000025; BAB63399.1; -; Genomic_DNA.
DR EMBL; AB088115; BAC54952.1; -; Genomic_DNA.
DR EMBL; AL662801; CAI18287.1; -; Genomic_DNA.
DR EMBL; AL662847; CAI17673.1; -; Genomic_DNA.
DR EMBL; BX001040; CAI18639.2; -; Genomic_DNA.
DR EMBL; BX001040; CAI18640.1; -; Genomic_DNA.
DR EMBL; BX248516; CAI41929.1; -; Genomic_DNA.
DR EMBL; BX248516; CAI41930.1; -; Genomic_DNA.
DR EMBL; CR753892; CAQ06925.1; -; Genomic_DNA.
DR EMBL; CR753892; CAQ06926.1; -; Genomic_DNA.
DR EMBL; BX927320; CAQ09987.1; -; Genomic_DNA.
DR EMBL; BX927320; CAQ09988.1; -; Genomic_DNA.
DR EMBL; CR753864; CAQ10647.1; -; Genomic_DNA.
DR EMBL; CR753864; CAQ10648.1; -; Genomic_DNA.
DR EMBL; CR753820; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR942185; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03414.1; -; Genomic_DNA.
DR EMBL; CH471081; EAX03416.1; -; Genomic_DNA.
DR EMBL; AB202112; BAE78636.1; -; Genomic_DNA.
DR EMBL; AB103621; BAF31286.1; -; Genomic_DNA.
DR EMBL; BC047791; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC119726; AAI19727.1; -; mRNA.
DR EMBL; BC119727; AAI19728.1; -; mRNA.
DR EMBL; AA401769; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_001191007.1; NM_001204078.1.
DR RefSeq; NP_569730.1; NM_130463.3.
DR RefSeq; NP_612139.1; NM_138282.2.
DR UniGene; Hs.249227; -.
DR ProteinModelPortal; O95670; -.
DR SMR; O95670; 1-107.
DR IntAct; O95670; 3.
DR MINT; MINT-1035852; -.
DR STRING; 9606.ENSP00000372995; -.
DR PhosphoSite; O95670; -.
DR PaxDb; O95670; -.
DR PRIDE; O95670; -.
DR Ensembl; ENST00000303892; ENSP00000302194; ENSG00000213760.
DR Ensembl; ENST00000376151; ENSP00000365321; ENSG00000213760.
DR Ensembl; ENST00000383503; ENSP00000372995; ENSG00000206445.
DR Ensembl; ENST00000421596; ENSP00000406575; ENSG00000234668.
DR Ensembl; ENST00000434217; ENSP00000406668; ENSG00000226850.
DR Ensembl; ENST00000441959; ENSP00000395436; ENSG00000227587.
DR Ensembl; ENST00000443657; ENSP00000416031; ENSG00000227587.
DR Ensembl; ENST00000444088; ENSP00000406389; ENSG00000234920.
DR Ensembl; ENST00000447174; ENSP00000403158; ENSG00000230900.
DR Ensembl; ENST00000448779; ENSP00000409104; ENSG00000234920.
DR Ensembl; ENST00000449748; ENSP00000406372; ENSG00000226850.
DR Ensembl; ENST00000452453; ENSP00000402430; ENSG00000206445.
DR Ensembl; ENST00000454370; ENSP00000413222; ENSG00000234668.
DR Ensembl; ENST00000454889; ENSP00000408670; ENSG00000230900.
DR Ensembl; ENST00000483251; ENSP00000419698; ENSG00000213760.
DR GeneID; 534; -.
DR KEGG; hsa:534; -.
DR UCSC; uc003ntz.3; human.
DR CTD; 534; -.
DR GeneCards; GC06M031512; -.
DR GeneCards; GC06Mj31499; -.
DR GeneCards; GC06Mk31494; -.
DR GeneCards; GC06Ml31551; -.
DR GeneCards; GC06Mm31588; -.
DR GeneCards; GC06Mn31502; -.
DR GeneCards; GC06Mo31502; -.
DR HGNC; HGNC:862; ATP6V1G2.
DR HPA; CAB004616; -.
DR MIM; 606853; gene.
DR neXtProt; NX_O95670; -.
DR PharmGKB; PA25164; -.
DR eggNOG; NOG238684; -.
DR HOGENOM; HOG000186416; -.
DR HOVERGEN; HBG057827; -.
DR InParanoid; O95670; -.
DR KO; K02152; -.
DR OMA; HPNYRIT; -.
DR OrthoDB; EOG7MWH0X; -.
DR BioCyc; MetaCyc:HS10685-MONOMER; -.
DR Reactome; REACT_111102; Signal Transduction.
DR Reactome; REACT_116125; Disease.
DR Reactome; REACT_15518; Transmembrane transport of small molecules.
DR GeneWiki; ATP6V1G2; -.
DR GenomeRNAi; 534; -.
DR NextBio; 2217; -.
DR PRO; PR:O95670; -.
DR ArrayExpress; O95670; -.
DR Bgee; O95670; -.
DR CleanEx; HS_ATP6V1G2; -.
DR Genevestigator; O95670; -.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0030285; C:integral to synaptic vesicle membrane; IEA:Ensembl.
DR GO; GO:0042470; C:melanosome; IEA:UniProtKB-SubCell.
DR GO; GO:0016471; C:vacuolar proton-transporting V-type ATPase complex; IEA:Ensembl.
DR GO; GO:0008553; F:hydrogen-exporting ATPase activity, phosphorylative mechanism; IEA:Ensembl.
DR GO; GO:0006879; P:cellular iron ion homeostasis; TAS:Reactome.
DR GO; GO:0008286; P:insulin receptor signaling pathway; TAS:Reactome.
DR GO; GO:0051701; P:interaction with host; TAS:Reactome.
DR GO; GO:0090382; P:phagosome maturation; TAS:Reactome.
DR GO; GO:0033572; P:transferrin transport; TAS:Reactome.
DR GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
DR InterPro; IPR005124; V-ATPase_G.
DR PANTHER; PTHR12713; PTHR12713; 1.
DR TIGRFAMs; TIGR01147; V_ATP_synt_G; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Hydrogen ion transport;
KW Ion transport; Reference proteome; Transport.
FT CHAIN 1 118 V-type proton ATPase subunit G 2.
FT /FTId=PRO_0000192900.
FT VAR_SEQ 1 41 Missing (in isoform 3).
FT /FTId=VSP_047411.
FT VAR_SEQ 35 74 Missing (in isoform 2).
FT /FTId=VSP_045909.
FT CONFLICT 52 52 E -> D (in Ref. 10; AA401769).
SQ SEQUENCE 118 AA; 13604 MW; 5D46EEE0C8D7657D CRC64;
MASQSQGIQQ LLQAEKRAAE KVADARKRKA RRLKQAKEEA QMEVEQYRRE REHEFQSKQQ
AAMGSQGNLS AEVEQATRRQ VQGMQSSQQR NRERVLAQLL GMVCDVRPQV HPNYRISA
//
ID VATG2_HUMAN Reviewed; 118 AA.
AC O95670; B5MEF0; Q2L6F8; Q5HYU8; Q5RJ63;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAY-1999, sequence version 1.
DT 22-JAN-2014, entry version 120.
DE RecName: Full=V-type proton ATPase subunit G 2;
DE Short=V-ATPase subunit G 2;
DE AltName: Full=V-ATPase 13 kDa subunit 2;
DE AltName: Full=Vacuolar proton pump subunit G 2;
GN Name=ATP6V1G2; Synonyms=ATP6G, ATP6G2, NG38;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10202016;
RA Neville M.J., Campbell R.D.;
RT "A new member of the Ig superfamily and a V-ATPase G subunit are among
RT the predicted products of novel genes close to the TNF locus in the
RT human MHC.";
RL J. Immunol. 162:4745-4754(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Brain;
RA Iida A., Kondo K., Mishima C., Nakamura Y.;
RT "Genomic structure of human ATP6G gene.";
RL Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Shichi D., Naruse T., Nakashima M., Kikkawa E., Ota M., Katsuyama Y.,
RA Kimura A., Matsumori A., Inoko H.;
RT "Polymorphism of ATP6G.";
RL Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Shiina S., Tamiya G., Oka A., Inoko H.;
RT "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H.;
RT "Genome diversity in HLA: a new strategy for detection of genetic
RT polymorphisms in expressed genes within the HLA class III and class I
RT regions.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
RA Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
RA Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
RA Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
RA Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
RA Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
RA Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
RA Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
RA Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
RA Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
RA Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
RA Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
RA Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
RA Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
RA McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
RA Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
RA Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
RA Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
RA Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
RA Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
RA Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
RA Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
RA Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
RA Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
RA Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC TISSUE=Peripheral blood leukocyte;
RX PubMed=16702430; DOI=10.1534/genetics.106.057034;
RA Shiina T., Ota M., Shimizu S., Katsuyama Y., Hashimoto N., Takasu M.,
RA Anzai T., Kulski J.K., Kikkawa E., Naruse T., Kimura N., Yanagiya K.,
RA Watanabe A., Hosomichi K., Kohara S., Iwamoto C., Umehara Y.,
RA Meyer A., Wanner V., Sano K., Macquin C., Ikeo K., Tokunaga K.,
RA Gojobori T., Inoko H., Bahram S.;
RT "Rapid evolution of major histocompatibility complex class I genes in
RT primates generates new disease alleles in humans via hitchhiking
RT diversity.";
RL Genetics 173:1555-1570(2006).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Leiomyosarcoma;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-75 (ISOFORM 3).
RA Hillier L., Clark N., Dubuque T., Elliston K., Hawkins M., Holman M.,
RA Hultman M., Kucaba T., Le M., Lennon G., Marra M., Parsons J.,
RA Rifkin L., Rohlfing T., Soares M., Tan F., Trevaskis E., Waterston R.,
RA Williamson A., Wohldmann P., Wilson R.;
RT "The WashU-Merck EST project.";
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP TISSUE SPECIFICITY.
RX PubMed=12384298; DOI=10.1016/S0378-1119(02)00884-3;
RA Smith A.N., Borthwick K.J., Karet F.E.;
RT "Molecular cloning and characterization of novel tissue-specific
RT isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and
RT their evaluation in autosomal recessive distal renal tubular
RT acidosis.";
RL Gene 297:169-177(2002).
RN [12]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RC TISSUE=Melanoma;
RX PubMed=17081065; DOI=10.1021/pr060363j;
RA Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H.,
RA Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R.,
RA Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E.,
RA Hunt D.F.;
RT "Proteomic and bioinformatic characterization of the biogenesis and
RT function of melanosomes.";
RL J. Proteome Res. 5:3135-3144(2006).
CC -!- FUNCTION: Catalytic subunit of the peripheral V1 complex of
CC vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying
CC a variety of intracellular compartments in eukaryotic cells.
CC -!- SUBUNIT: V-ATPase is a heteromultimeric enzyme composed of a
CC peripheral catalytic V1 complex (components A to H) attached to an
CC integral membrane V0 proton pore complex (components: a, c, c',
CC c'' and d) (By similarity).
CC -!- INTERACTION:
CC P36543:ATP6V1E1; NbExp=1; IntAct=EBI-348290, EBI-348639;
CC -!- SUBCELLULAR LOCATION: Melanosome. Note=Highly enriched in late-
CC stage melanosomes.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O95670-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95670-2; Sequence=VSP_045909;
CC Note=No experimental confirmation available;
CC Name=3;
CC IsoId=O95670-3; Sequence=VSP_047411;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Brain.
CC -!- SIMILARITY: Belongs to the V-ATPase G subunit family.
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DR EMBL; Y14768; CAA75073.1; -; Genomic_DNA.
DR EMBL; AB063177; BAC00863.1; -; Genomic_DNA.
DR EMBL; AB102692; BAD74058.1; -; Genomic_DNA.
DR EMBL; AB097672; BAD74057.1; -; Genomic_DNA.
DR EMBL; BA000025; BAB63399.1; -; Genomic_DNA.
DR EMBL; AB088115; BAC54952.1; -; Genomic_DNA.
DR EMBL; AL662801; CAI18287.1; -; Genomic_DNA.
DR EMBL; AL662847; CAI17673.1; -; Genomic_DNA.
DR EMBL; BX001040; CAI18639.2; -; Genomic_DNA.
DR EMBL; BX001040; CAI18640.1; -; Genomic_DNA.
DR EMBL; BX248516; CAI41929.1; -; Genomic_DNA.
DR EMBL; BX248516; CAI41930.1; -; Genomic_DNA.
DR EMBL; CR753892; CAQ06925.1; -; Genomic_DNA.
DR EMBL; CR753892; CAQ06926.1; -; Genomic_DNA.
DR EMBL; BX927320; CAQ09987.1; -; Genomic_DNA.
DR EMBL; BX927320; CAQ09988.1; -; Genomic_DNA.
DR EMBL; CR753864; CAQ10647.1; -; Genomic_DNA.
DR EMBL; CR753864; CAQ10648.1; -; Genomic_DNA.
DR EMBL; CR753820; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR942185; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03414.1; -; Genomic_DNA.
DR EMBL; CH471081; EAX03416.1; -; Genomic_DNA.
DR EMBL; AB202112; BAE78636.1; -; Genomic_DNA.
DR EMBL; AB103621; BAF31286.1; -; Genomic_DNA.
DR EMBL; BC047791; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC119726; AAI19727.1; -; mRNA.
DR EMBL; BC119727; AAI19728.1; -; mRNA.
DR EMBL; AA401769; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_001191007.1; NM_001204078.1.
DR RefSeq; NP_569730.1; NM_130463.3.
DR RefSeq; NP_612139.1; NM_138282.2.
DR UniGene; Hs.249227; -.
DR ProteinModelPortal; O95670; -.
DR SMR; O95670; 1-107.
DR IntAct; O95670; 3.
DR MINT; MINT-1035852; -.
DR STRING; 9606.ENSP00000372995; -.
DR PhosphoSite; O95670; -.
DR PaxDb; O95670; -.
DR PRIDE; O95670; -.
DR Ensembl; ENST00000303892; ENSP00000302194; ENSG00000213760.
DR Ensembl; ENST00000376151; ENSP00000365321; ENSG00000213760.
DR Ensembl; ENST00000383503; ENSP00000372995; ENSG00000206445.
DR Ensembl; ENST00000421596; ENSP00000406575; ENSG00000234668.
DR Ensembl; ENST00000434217; ENSP00000406668; ENSG00000226850.
DR Ensembl; ENST00000441959; ENSP00000395436; ENSG00000227587.
DR Ensembl; ENST00000443657; ENSP00000416031; ENSG00000227587.
DR Ensembl; ENST00000444088; ENSP00000406389; ENSG00000234920.
DR Ensembl; ENST00000447174; ENSP00000403158; ENSG00000230900.
DR Ensembl; ENST00000448779; ENSP00000409104; ENSG00000234920.
DR Ensembl; ENST00000449748; ENSP00000406372; ENSG00000226850.
DR Ensembl; ENST00000452453; ENSP00000402430; ENSG00000206445.
DR Ensembl; ENST00000454370; ENSP00000413222; ENSG00000234668.
DR Ensembl; ENST00000454889; ENSP00000408670; ENSG00000230900.
DR Ensembl; ENST00000483251; ENSP00000419698; ENSG00000213760.
DR GeneID; 534; -.
DR KEGG; hsa:534; -.
DR UCSC; uc003ntz.3; human.
DR CTD; 534; -.
DR GeneCards; GC06M031512; -.
DR GeneCards; GC06Mj31499; -.
DR GeneCards; GC06Mk31494; -.
DR GeneCards; GC06Ml31551; -.
DR GeneCards; GC06Mm31588; -.
DR GeneCards; GC06Mn31502; -.
DR GeneCards; GC06Mo31502; -.
DR HGNC; HGNC:862; ATP6V1G2.
DR HPA; CAB004616; -.
DR MIM; 606853; gene.
DR neXtProt; NX_O95670; -.
DR PharmGKB; PA25164; -.
DR eggNOG; NOG238684; -.
DR HOGENOM; HOG000186416; -.
DR HOVERGEN; HBG057827; -.
DR InParanoid; O95670; -.
DR KO; K02152; -.
DR OMA; HPNYRIT; -.
DR OrthoDB; EOG7MWH0X; -.
DR BioCyc; MetaCyc:HS10685-MONOMER; -.
DR Reactome; REACT_111102; Signal Transduction.
DR Reactome; REACT_116125; Disease.
DR Reactome; REACT_15518; Transmembrane transport of small molecules.
DR GeneWiki; ATP6V1G2; -.
DR GenomeRNAi; 534; -.
DR NextBio; 2217; -.
DR PRO; PR:O95670; -.
DR ArrayExpress; O95670; -.
DR Bgee; O95670; -.
DR CleanEx; HS_ATP6V1G2; -.
DR Genevestigator; O95670; -.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0030285; C:integral to synaptic vesicle membrane; IEA:Ensembl.
DR GO; GO:0042470; C:melanosome; IEA:UniProtKB-SubCell.
DR GO; GO:0016471; C:vacuolar proton-transporting V-type ATPase complex; IEA:Ensembl.
DR GO; GO:0008553; F:hydrogen-exporting ATPase activity, phosphorylative mechanism; IEA:Ensembl.
DR GO; GO:0006879; P:cellular iron ion homeostasis; TAS:Reactome.
DR GO; GO:0008286; P:insulin receptor signaling pathway; TAS:Reactome.
DR GO; GO:0051701; P:interaction with host; TAS:Reactome.
DR GO; GO:0090382; P:phagosome maturation; TAS:Reactome.
DR GO; GO:0033572; P:transferrin transport; TAS:Reactome.
DR GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
DR InterPro; IPR005124; V-ATPase_G.
DR PANTHER; PTHR12713; PTHR12713; 1.
DR TIGRFAMs; TIGR01147; V_ATP_synt_G; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Hydrogen ion transport;
KW Ion transport; Reference proteome; Transport.
FT CHAIN 1 118 V-type proton ATPase subunit G 2.
FT /FTId=PRO_0000192900.
FT VAR_SEQ 1 41 Missing (in isoform 3).
FT /FTId=VSP_047411.
FT VAR_SEQ 35 74 Missing (in isoform 2).
FT /FTId=VSP_045909.
FT CONFLICT 52 52 E -> D (in Ref. 10; AA401769).
SQ SEQUENCE 118 AA; 13604 MW; 5D46EEE0C8D7657D CRC64;
MASQSQGIQQ LLQAEKRAAE KVADARKRKA RRLKQAKEEA QMEVEQYRRE REHEFQSKQQ
AAMGSQGNLS AEVEQATRRQ VQGMQSSQQR NRERVLAQLL GMVCDVRPQV HPNYRISA
//
MIM
606853
*RECORD*
*FIELD* NO
606853
*FIELD* TI
*606853 ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 2;
ATP6V1G2
read more;;ATP6G2
*FIELD* TX
DESCRIPTION
Vacuolar type ATPases are involved in bone resorption, glycosylation in
the Golgi, degradation of cellular debris in lysosomes, and the
processing of endocytosed receptor-ligand complexes.
CLONING
By sequence analysis of cosmid clones of the G1 region of chromosome
6p21.3, followed by database analysis, Neville and Campbell (1999)
identified cDNAs encoding 2 isoforms of ATP6G2. The full-length
118-amino acid protein is 82% similar to the cow protein. The other
isoform encodes a 77-amino acid protein. RT-PCR analysis detected
expression in lymphocytic but not monocytic or macrophage-like cell
lines.
MAPPING
By sequence analysis, Neville and Campbell (1999) mapped the ATP6G2 gene
to chromosome 6p21.3, approximately 1 kb telomeric to NFKBIL1 (601022)
and centromeric to BAT1 (142560).
*FIELD* RF
1. Neville, M. J.; Campbell, R. D.: 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. J. Immun. 162: 4745-4754,
1999.
*FIELD* CD
Paul J. Converse: 4/15/2002
*FIELD* ED
carol: 07/07/2006
mgross: 10/14/2002
mgross: 4/15/2002
*RECORD*
*FIELD* NO
606853
*FIELD* TI
*606853 ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 2;
ATP6V1G2
read more;;ATP6G2
*FIELD* TX
DESCRIPTION
Vacuolar type ATPases are involved in bone resorption, glycosylation in
the Golgi, degradation of cellular debris in lysosomes, and the
processing of endocytosed receptor-ligand complexes.
CLONING
By sequence analysis of cosmid clones of the G1 region of chromosome
6p21.3, followed by database analysis, Neville and Campbell (1999)
identified cDNAs encoding 2 isoforms of ATP6G2. The full-length
118-amino acid protein is 82% similar to the cow protein. The other
isoform encodes a 77-amino acid protein. RT-PCR analysis detected
expression in lymphocytic but not monocytic or macrophage-like cell
lines.
MAPPING
By sequence analysis, Neville and Campbell (1999) mapped the ATP6G2 gene
to chromosome 6p21.3, approximately 1 kb telomeric to NFKBIL1 (601022)
and centromeric to BAT1 (142560).
*FIELD* RF
1. Neville, M. J.; Campbell, R. D.: 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. J. Immun. 162: 4745-4754,
1999.
*FIELD* CD
Paul J. Converse: 4/15/2002
*FIELD* ED
carol: 07/07/2006
mgross: 10/14/2002
mgross: 4/15/2002