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O95670 (VATG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ATP6V1G2
Synonyms:ATP6G, ATP6G2, NG38
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length118 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

Melanosome. Note: Highly enriched in late-stage melanosomes. Ref.12

Tissue specificity

Brain. Ref.11

Sequence similarities

Belongs to the V-ATPase G subunit family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ATP6V1E1P365431EBI-348290,EBI-348639

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95670-1)

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.
Isoform 2 (identifier: O95670-2)

The sequence of this isoform differs from the canonical sequence as follows:
     35-74: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: O95670-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 118118V-type proton ATPase subunit G 2
PRO_0000192900

Natural variations

Alternative sequence1 – 4141Missing in isoform 3.
VSP_047411
Alternative sequence35 – 7440Missing in isoform 2.
VSP_045909

Experimental info

Sequence conflict521E → D in AA401769. Ref.10

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 5D46EEE0C8D7657D

FASTA11813,604
        10         20         30         40         50         60 
MASQSQGIQQ LLQAEKRAAE KVADARKRKA RRLKQAKEEA QMEVEQYRRE REHEFQSKQQ 

        70         80         90        100        110 
AAMGSQGNLS AEVEQATRRQ VQGMQSSQQR NRERVLAQLL GMVCDVRPQV HPNYRISA 

« Hide

Isoform 2 [UniParc].

Checksum: C58F9F6252E8076A
Show »

FASTA788,954
Isoform 3 [UniParc].

Checksum: A22322E87147DFE7
Show »

FASTA778,972

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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. expand/collapse author list , 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]"The WashU-Merck EST project."
Hillier L., Clark N., Dubuque T., Elliston K., Hawkins M., Holman M., Hultman M., Kucaba T., Le M., Lennon G., Marra M., Parsons J., Rifkin L., Rohlfing T., Soares M., Tan F., Trevaskis E., Waterston R. expand/collapse author list , Williamson A., Wohldmann P., Wilson R.
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
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]"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes."
Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F.
J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Melanoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001191007.1. NM_001204078.1.
NP_569730.1. NM_130463.3.
NP_612139.1. NM_138282.2.
UniGeneHs.249227.

3D structure databases

ProteinModelPortalO95670.
SMRO95670. Positions 1-107.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107017. 3 interactions.
IntActO95670. 3 interactions.
MINTMINT-1035852.
STRING9606.ENSP00000372995.

PTM databases

PhosphoSiteO95670.

Proteomic databases

PaxDbO95670.
PRIDEO95670.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303892; 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]
GeneID534.
KEGGhsa:534.
UCSCuc003ntz.3. human. [O95670-1]
uc021yur.1. human.

Organism-specific databases

CTD534.
GeneCardsGC06M031512.
GC06Mj31499.
GC06Mk31494.
GC06Ml31551.
GC06Mm31588.
GC06Mn31502.
GC06Mo31502.
HGNCHGNC:862. ATP6V1G2.
HPACAB004616.
MIM606853. gene.
neXtProtNX_O95670.
PharmGKBPA25164.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG238684.
HOGENOMHOG000186416.
HOVERGENHBG057827.
InParanoidO95670.
KOK02152.
OMAHPNYRIT.
OrthoDBEOG7MWH0X.
PhylomeDBO95670.
TreeFamTF313777.

Enzyme and pathway databases

BioCycMetaCyc:HS10685-MONOMER.
ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO95670.
BgeeO95670.
CleanExHS_ATP6V1G2.
GenevestigatorO95670.

Family and domain databases

InterProIPR005124. V-ATPase_G.
[Graphical view]
PANTHERPTHR12713. PTHR12713. 1 hit.
TIGRFAMsTIGR01147. V_ATP_synt_G. 1 hit.
ProtoNetSearch...

Other

GeneWikiATP6V1G2.
GenomeRNAi534.
NextBio2217.
PROO95670.
SOURCESearch...

Entry information

Entry nameVATG2_HUMAN
AccessionPrimary (citable) accession number: O95670
Secondary accession number(s): B5MEF0 expand/collapse secondary AC list , Q2L6F8, Q5HYU8, Q5RJ63
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: April 16, 2014
This is version 123 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM