Q96LB4 (VATG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	ATP6V1G3
Synonyms:	ATP6G3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	118 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript 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.
Tissue specificity	Kidney. Ref.1
Sequence similarities	Belongs to the V-ATPase G subunit family.

Ontologies

Keywords
Biological process	Hydrogen ion transport Ion transport Transport
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular iron ion homeostasis Traceable author statement. Source: Reactome insulin receptor signaling pathway Traceable author statement. Source: Reactome interaction with host Traceable author statement. Source: Reactome phagosome maturation Traceable author statement. Source: Reactome transferrin transport Traceable author statement. Source: Reactome transmembrane transport Traceable author statement. Source: Reactome
Cellular_component	cytosol Inferred from direct assay PubMed 17360703. Source: UniProtKB plasma membrane Inferred from direct assay PubMed 17360703. Source: UniProtKB vacuolar proton-transporting V-type ATPase complex Inferred from electronic annotation. Source: InterPro
Molecular_function	hydrogen-exporting ATPase activity, phosphorylative mechanism Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96LB4-1)

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: Q96LB4-2)

The sequence of this isoform is not available.

Isoform 3 (identifier: Q96LB4-3)

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

Isoform 4 (identifier: Q96LB4-4)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 118	118	V-type proton ATPase subunit G 3		PRO_0000192904
Regions
	Coiled coil	5 – 54	50	Potential
Natural variations
	Alternative sequence	28 – 118	91	RKGKR…YRATN → ILHLLFLKRRDWDCFWKRKA IEASQGGSNGRN in isoform 3.		VSP_036423
	Alternative sequence	28	1	R → KTGTASG in isoform 4.		VSP_036426
	Natural variant	54	1	E → Q. Corresponds to variant rs16843254 [ dbSNP | Ensembl ].		VAR_048343

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 651F8F5497164754	FASTA	118	13,917
	10 20 30 40 50 60 MTSQSQGIHQ LLQAEKRAKD KLEEAKKRKG KRLKQAKEEA MVEIDQYRMQ RDKEFRLKQS 70 80 90 100 110 KIMGSQNNLS DEIEEQTLGK IQELNGHYNK YMESVMNQLL SMVCDMKPEI HVNYRATN
	Isoform 2 (Sequence not available).		–	–
	Isoform 3 [UniParc]. Checksum: 2EDA379DF6385E11	FASTA	59	6,895
	10 20 30 40 50 MTSQSQGIHQ LLQAEKRAKD KLEEAKKILH LLFLKRRDWD CFWKRKAIEA SQGGSNGRN
	Isoform 4 [UniParc]. Checksum: E80336A5FFDF483A	FASTA	124	14,363
	10 20 30 40 50 60 MTSQSQGIHQ LLQAEKRAKD KLEEAKKKTG TASGKGKRLK QAKEEAMVEI DQYRMQRDKE 70 80 90 100 110 120 FRLKQSKIMG SQNNLSDEIE EQTLGKIQEL NGHYNKYMES VMNQLLSMVC DMKPEIHVNY RATN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00064966. IPI00143888. IPI00745352.
RefSeq	NP_573569.1. NM_133262.2. NP_579872.1. NM_133326.1.
UniGene	Hs.127743.
3D structure databases
ProteinModelPortal	Q96LB4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000281087.
Protein family/group databases
TCDB	3.A.2.2.4. H+- or Na+-translocating F-type, V-type and A-type ATPase (F-ATPase) superfamily.
PTM databases
PhosphoSite	Q96LB4.
Polymorphism databases
DMDM	20140697.
Proteomic databases
PaxDb	Q96LB4.
PRIDE	Q96LB4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000281087; ENSP00000281087; ENSG00000151418. ENST00000309309; ENSP00000309574; ENSG00000151418. ENST00000367381; ENSP00000356351; ENSG00000151418. ENST00000367382; ENSP00000356352; ENSG00000151418. ENST00000489986; ENSP00000417171; ENSG00000151418. ENST00000571439; ENSP00000461616; ENSG00000263014. ENST00000573121; ENSP00000461329; ENSG00000263014. ENST00000575971; ENSP00000461228; ENSG00000263014.
GeneID	127124.
KEGG	hsa:127124.
UCSC	uc001guo.3. human. uc001gup.3. human. uc009wzd.3. human.
Organism-specific databases
CTD	127124.
GeneCards	GC01M198492.
HGNC	HGNC:18265. ATP6V1G3.
HPA	HPA028701.
neXtProt	NX_Q96LB4.
PharmGKB	PA38515.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG235870.
HOGENOM	HOG000186416.
HOVERGEN	HBG057827.
KO	K02152.
OMA	HVNYRAT.
OrthoDB	EOG4JM7R7.
PhylomeDB	Q96LB4.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction. REACT_116125. Disease. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
Bgee	Q96LB4.
CleanEx	HS_ATP6V1G3.
Genevestigator	Q96LB4.
GermOnline	ENSG00000151418. Homo sapiens.
Family and domain databases
InterPro	IPR005124. V-ATPase_G. [Graphical view]
PANTHER	PTHR12713. PTHR12713. 1 hit.
Pfam	PF03179. V-ATPase_G. 1 hit. [Graphical view]
TIGRFAMs	TIGR01147. V_ATP_synt_G. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	127124.
NextBio	82029.

Entry information

Entry name

VATG3_HUMAN

Accession

Primary (citable) accession number: Q96LB4
Secondary accession number(s): Q495K2, Q495K4, Q5T9L6

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 31, 2002
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 90 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.