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Q99437 (VATO_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
V-type proton ATPase 21 kDa proteolipid subunit

Short name=V-ATPase 21 kDa proteolipid subunit
Alternative name(s):
Vacuolar proton pump 21 kDa proteolipid subunit
hATPL
Gene names
Name:ATP6V0B
Synonyms:ATP6F
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length205 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Subunit structure

Interacts with IFITM3 By similarity.

Subcellular location

Vacuole membrane; Multi-pass membrane protein.

Tissue specificity

Ubiquitous.

Sequence similarities

Belongs to the V-ATPase proteolipid subunit family.

Ontologies

Keywords
   Biological processHydrogen ion transport
Ion transport
Transport
   Cellular componentMembrane
Vacuole
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP hydrolysis coupled proton transport

Inferred from electronic annotation. Source: InterPro

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

proton transport

Traceable author statement Ref.1. Source: ProtInc

transferrin transport

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentendosome membrane

Traceable author statement. Source: Reactome

integral component of membrane

Traceable author statement Ref.1. Source: ProtInc

phagocytic vesicle membrane

Traceable author statement. Source: Reactome

proton-transporting V-type ATPase, V0 domain

Inferred from electronic annotation. Source: InterPro

vacuolar membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionhydrogen ion transmembrane transporter activity

Inferred from electronic annotation. Source: InterPro

transporter activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99437-1)

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: Q99437-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-47: Missing.
Note: No experimental confirmation available. Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 205205V-type proton ATPase 21 kDa proteolipid subunit
PRO_0000071777

Regions

Topological domain1 – 33Lumenal Potential
Transmembrane4 – 2421Helical; Potential
Topological domain25 – 5127Cytoplasmic Potential
Transmembrane52 – 7221Helical; Potential
Topological domain73 – 9018Lumenal Potential
Transmembrane91 – 11121Helical; Potential
Topological domain112 – 13726Cytoplasmic Potential
Transmembrane138 – 15821Helical; Potential
Topological domain159 – 17517Lumenal Potential
Transmembrane176 – 19621Helical; Potential
Topological domain197 – 2059Cytoplasmic Potential

Sites

Site981Essential for proton translocation By similarity

Natural variations

Alternative sequence1 – 4747Missing in isoform 2.
VSP_046288
Natural variant1551V → M in a breast cancer sample; somatic mutation. Ref.7
VAR_035703

Sequences

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

Last modified May 1, 1997. Version 1.
Checksum: F17C688D068A2785

FASTA20521,406
        10         20         30         40         50         60 
MTGLALLYSG VFVAFWACAL AVGVCYTIFD LGFRFDVAWF LTETSPFMWS NLGIGLAISL 

        70         80         90        100        110        120 
SVVGAAWGIY ITGSSIIGGG VKAPRIKTKN LVSIIFCEAV AIYGIIMAIV ISNMAEPFSA 

       130        140        150        160        170        180 
TDPKAIGHRN YHAGYSMFGA GLTVGLSNLF CGVCVGIVGS GAALADAQNP SLFVKILIVE 

       190        200 
IFGSAIGLFG VIVAILQTSR VKMGD 

« Hide

Isoform 2 [UniParc].

Checksum: 93A67D6350A62D34
Show »

FASTA15816,206

References

« Hide 'large scale' references
[1]"Identification and characterization of the gene encoding a second proteolipid subunit of human vacuolar H(+)-ATPase (ATP6F)."
Nishigori H., Yamada S., Tomura H., Fernald A.A., le Beau M.M., Takeuchi T., Takeda J.
Genomics 50:222-228(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Kidney.
[2]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"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. expand/collapse author list , 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].
[5]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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORM 1).
Tissue: Muscle.
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-155.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D89052 mRNA. Translation: BAA13753.1.
BT007151 mRNA. Translation: AAP35815.1.
CR456972 mRNA. Translation: CAG33253.1.
AL357079 Genomic DNA. Translation: CAI16801.1.
CH471059 Genomic DNA. Translation: EAX07066.1.
CH471059 Genomic DNA. Translation: EAX07067.1.
CH471059 Genomic DNA. Translation: EAX07068.1.
BC000423 mRNA. Translation: AAH00423.1.
BC005876 mRNA. Translation: AAH05876.1.
CCDSCCDS41315.1. [Q99437-2]
CCDS505.1. [Q99437-1]
RefSeqNP_001034546.1. NM_001039457.1. [Q99437-2]
NP_004038.1. NM_004047.3. [Q99437-1]
UniGeneHs.596514.

3D structure databases

ProteinModelPortalQ99437.
SMRQ99437. Positions 49-114.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107016. 5 interactions.
IntActQ99437. 3 interactions.
STRING9606.ENSP00000236067.

Polymorphism databases

DMDM6136172.

Proteomic databases

PRIDEQ99437.

Protocols and materials databases

DNASU533.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000236067; ENSP00000236067; ENSG00000117410. [Q99437-2]
ENST00000472174; ENSP00000431605; ENSG00000117410. [Q99437-1]
ENST00000498664; ENSP00000434094; ENSG00000117410. [Q99437-2]
GeneID533.
KEGGhsa:533.
UCSCuc001cld.3. human. [Q99437-1]

Organism-specific databases

CTD533.
GeneCardsGC01P044440.
HGNCHGNC:861. ATP6V0B.
HPAHPA044281.
MIM603717. gene.
neXtProtNX_Q99437.
PharmGKBPA25148.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0636.
HOGENOMHOG000056522.
HOVERGENHBG105033.
InParanoidQ99437.
KOK03661.
OrthoDBEOG7MD4RZ.
PhylomeDBQ99437.
TreeFamTF314946.

Enzyme and pathway databases

BioCycMetaCyc:ENSG00000117410-MONOMER.
ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ99437.
BgeeQ99437.
CleanExHS_ATP6V0B.
GenevestigatorQ99437.

Family and domain databases

InterProIPR002379. ATPase_proteolipid_c_like_dom.
IPR000245. ATPase_proteolipid_csu.
[Graphical view]
PfamPF00137. ATP-synt_C. 2 hits.
[Graphical view]
PRINTSPR00122. VACATPASE.
SUPFAMSSF81333. SSF81333. 2 hits.
ProtoNetSearch...

Other

ChiTaRSATP6V0B. human.
GeneWikiATP6V0B.
GenomeRNAi533.
NextBio2211.
PROQ99437.
SOURCESearch...

Entry information

Entry nameVATO_HUMAN
AccessionPrimary (citable) accession number: Q99437
Secondary accession number(s): D3DPY5, Q6IB32
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 1, 1997
Last modified: July 9, 2014
This is version 126 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM