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Protein

V-type proton ATPase 21 kDa proteolipid subunit

Gene

ATP6V0B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei98 – 981Essential for proton translocationBy similarity

GO - Molecular functioni

  1. hydrogen ion transmembrane transporter activity Source: InterPro
  2. transporter activity Source: ProtInc

GO - Biological processi

  1. ATP hydrolysis coupled proton transport Source: InterPro
  2. cellular iron ion homeostasis Source: Reactome
  3. insulin receptor signaling pathway Source: Reactome
  4. interaction with host Source: Reactome
  5. phagosome maturation Source: Reactome
  6. proton transport Source: ProtInc
  7. transferrin transport Source: Reactome
  8. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000117410-MONOMER.
ReactomeiREACT_1109. Insulin receptor recycling.
REACT_121256. Phagosomal maturation (early endosomal stage).
REACT_25283. Transferrin endocytosis and recycling.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:ATP6V0B
Synonyms:ATP6F
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:861. ATP6V0B.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 33LumenalSequence Analysis
Transmembranei4 – 2421HelicalSequence AnalysisAdd
BLAST
Topological domaini25 – 5127CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei52 – 7221HelicalSequence AnalysisAdd
BLAST
Topological domaini73 – 9018LumenalSequence AnalysisAdd
BLAST
Transmembranei91 – 11121HelicalSequence AnalysisAdd
BLAST
Topological domaini112 – 13726CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei138 – 15821HelicalSequence AnalysisAdd
BLAST
Topological domaini159 – 17517LumenalSequence AnalysisAdd
BLAST
Transmembranei176 – 19621HelicalSequence AnalysisAdd
BLAST
Topological domaini197 – 2059CytoplasmicSequence Analysis

GO - Cellular componenti

  1. endosome membrane Source: Reactome
  2. integral component of membrane Source: ProtInc
  3. phagocytic vesicle membrane Source: Reactome
  4. proton-transporting V-type ATPase, V0 domain Source: InterPro
  5. vacuolar membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Vacuole

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25148.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 205205V-type proton ATPase 21 kDa proteolipid subunitPRO_0000071777Add
BLAST

Proteomic databases

PRIDEiQ99437.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiQ99437.
CleanExiHS_ATP6V0B.
ExpressionAtlasiQ99437. baseline and differential.
GenevestigatoriQ99437.

Organism-specific databases

HPAiHPA044281.

Interactioni

Subunit structurei

Interacts with IFITM3.By similarity

Protein-protein interaction databases

BioGridi107016. 5 interactions.
IntActiQ99437. 3 interactions.
STRINGi9606.ENSP00000236067.

Structurei

3D structure databases

ProteinModelPortaliQ99437.
SMRiQ99437. Positions 50-111.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0636.
GeneTreeiENSGT00550000075120.
HOGENOMiHOG000056522.
HOVERGENiHBG105033.
InParanoidiQ99437.
KOiK03661.
OrthoDBiEOG7MD4RZ.
PhylomeDBiQ99437.
TreeFamiTF314946.

Family and domain databases

InterProiIPR002379. ATPase_proteolipid_c_like_dom.
IPR000245. ATPase_proteolipid_csu.
[Graphical view]
PfamiPF00137. ATP-synt_C. 2 hits.
[Graphical view]
PRINTSiPR00122. VACATPASE.
SUPFAMiSSF81333. SSF81333. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q99437-1) [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

        10         20         30         40         50
MTGLALLYSG VFVAFWACAL AVGVCYTIFD LGFRFDVAWF LTETSPFMWS
60 70 80 90 100
NLGIGLAISL SVVGAAWGIY ITGSSIIGGG VKAPRIKTKN LVSIIFCEAV
110 120 130 140 150
AIYGIIMAIV ISNMAEPFSA TDPKAIGHRN YHAGYSMFGA GLTVGLSNLF
160 170 180 190 200
CGVCVGIVGS GAALADAQNP SLFVKILIVE IFGSAIGLFG VIVAILQTSR

VKMGD
Length:205
Mass (Da):21,406
Last modified:May 1, 1997 - v1
Checksum:iF17C688D068A2785
GO
Isoform 2 (identifier: Q99437-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:158
Mass (Da):16,206
Checksum:i93A67D6350A62D34
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti155 – 1551V → M in a breast cancer sample; somatic mutation. 1 Publication
VAR_035703

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4747Missing in isoform 2. CuratedVSP_046288Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS41315.1. [Q99437-2]
CCDS505.1. [Q99437-1]
RefSeqiNP_001034546.1. NM_001039457.2. [Q99437-2]
NP_004038.1. NM_004047.4. [Q99437-1]
UniGeneiHs.596514.

Genome annotation databases

EnsembliENST00000236067; ENSP00000236067; ENSG00000117410. [Q99437-2]
ENST00000472174; ENSP00000431605; ENSG00000117410. [Q99437-1]
ENST00000498664; ENSP00000434094; ENSG00000117410. [Q99437-2]
GeneIDi533.
KEGGihsa:533.
UCSCiuc001cld.3. human. [Q99437-1]

Polymorphism databases

DMDMi6136172.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS41315.1. [Q99437-2]
CCDS505.1. [Q99437-1]
RefSeqiNP_001034546.1. NM_001039457.2. [Q99437-2]
NP_004038.1. NM_004047.4. [Q99437-1]
UniGeneiHs.596514.

3D structure databases

ProteinModelPortaliQ99437.
SMRiQ99437. Positions 50-111.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107016. 5 interactions.
IntActiQ99437. 3 interactions.
STRINGi9606.ENSP00000236067.

Polymorphism databases

DMDMi6136172.

Proteomic databases

PRIDEiQ99437.

Protocols and materials databases

DNASUi533.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000236067; ENSP00000236067; ENSG00000117410. [Q99437-2]
ENST00000472174; ENSP00000431605; ENSG00000117410. [Q99437-1]
ENST00000498664; ENSP00000434094; ENSG00000117410. [Q99437-2]
GeneIDi533.
KEGGihsa:533.
UCSCiuc001cld.3. human. [Q99437-1]

Organism-specific databases

CTDi533.
GeneCardsiGC01P044440.
HGNCiHGNC:861. ATP6V0B.
HPAiHPA044281.
MIMi603717. gene.
neXtProtiNX_Q99437.
PharmGKBiPA25148.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0636.
GeneTreeiENSGT00550000075120.
HOGENOMiHOG000056522.
HOVERGENiHBG105033.
InParanoidiQ99437.
KOiK03661.
OrthoDBiEOG7MD4RZ.
PhylomeDBiQ99437.
TreeFamiTF314946.

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000117410-MONOMER.
ReactomeiREACT_1109. Insulin receptor recycling.
REACT_121256. Phagosomal maturation (early endosomal stage).
REACT_25283. Transferrin endocytosis and recycling.

Miscellaneous databases

ChiTaRSiATP6V0B. human.
GeneWikiiATP6V0B.
GenomeRNAii533.
NextBioi2211.
PROiQ99437.
SOURCEiSearch...

Gene expression databases

BgeeiQ99437.
CleanExiHS_ATP6V0B.
ExpressionAtlasiQ99437. baseline and differential.
GenevestigatoriQ99437.

Family and domain databases

InterProiIPR002379. ATPase_proteolipid_c_like_dom.
IPR000245. ATPase_proteolipid_csu.
[Graphical view]
PfamiPF00137. ATP-synt_C. 2 hits.
[Graphical view]
PRINTSiPR00122. VACATPASE.
SUPFAMiSSF81333. SSF81333. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-155.

Entry informationi

Entry nameiVATO_HUMAN
AccessioniPrimary (citable) accession number: Q99437
Secondary accession number(s): D3DPY5, Q6IB32
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 1, 1997
Last modified: January 7, 2015
This is version 130 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.