Q99437 (VATO_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	ATP6V0B
Synonyms:	ATP6F

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	205 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Hydrogen ion transport Ion transport Transport
Cellular component	Membrane Vacuole
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP 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_component	endosome membrane Traceable author statement. Source: Reactome integral to 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_function	hydrogen 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 205	205	V-type proton ATPase 21 kDa proteolipid subunit		PRO_0000071777
Regions
	Topological domain	1 – 3	3	Lumenal Potential
	Transmembrane	4 – 24	21	Helical; Potential
	Topological domain	25 – 51	27	Cytoplasmic Potential
	Transmembrane	52 – 72	21	Helical; Potential
	Topological domain	73 – 90	18	Lumenal Potential
	Transmembrane	91 – 111	21	Helical; Potential
	Topological domain	112 – 137	26	Cytoplasmic Potential
	Transmembrane	138 – 158	21	Helical; Potential
	Topological domain	159 – 175	17	Lumenal Potential
	Transmembrane	176 – 196	21	Helical; Potential
	Topological domain	197 – 205	9	Cytoplasmic Potential
Sites
	Site	98	1	Essential for proton translocation By similarity
Natural variations
	Alternative sequence	1 – 47	47	Missing in isoform 2.		VSP_046288
	Natural variant	155	1	V → M in a breast cancer sample; somatic mutation. Ref.7		VAR_035703

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: F17C688D068A2785	FASTA	205	21,406
	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
	Isoform 2 [UniParc]. Checksum: 93A67D6350A62D34	FASTA	158	16,206
	10 20 30 40 50 60 MWSNLGIGLA ISLSVVGAAW GIYITGSSII GGGVKAPRIK TKNLVSIIFC EAVAIYGIIM 70 80 90 100 110 120 AIVISNMAEP FSATDPKAIG HRNYHAGYSM FGAGLTVGLS NLFCGVCVGI VGSGAALADA 130 140 150 QNPSLFVKIL IVEIFGSAIG LFGVIVAILQ TSRVKMGD

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00015261. IPI00719579.
RefSeq	NP_001034546.1. NM_001039457.1. NP_004038.1. NM_004047.3.
UniGene	Hs.596514.
3D structure databases
ProteinModelPortal	Q99437.
SMR	Q99437. Positions 49-112, 131-198.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q99437. 3 interactions.
STRING	9606.ENSP00000236067.
Polymorphism databases
DMDM	6136172.
Protocols and materials databases
DNASU	533.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000236067; ENSP00000236067; ENSG00000117410. ENST00000472174; ENSP00000431605; ENSG00000117410. ENST00000498664; ENSP00000434094; ENSG00000117410.
GeneID	533.
KEGG	hsa:533.
UCSC	uc001cld.3. human.
Organism-specific databases
CTD	533.
GeneCards	GC01P044440.
HGNC	HGNC:861. ATP6V0B.
HPA	HPA044281.
MIM	603717. gene.
neXtProt	NX_Q99437.
PharmGKB	PA25148.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0636.
HOGENOM	HOG000056522.
HOVERGEN	HBG105033.
InParanoid	Q99437.
KO	K03661.
OrthoDB	EOG4ZW5C4.
PhylomeDB	Q99437.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction. REACT_116125. Disease. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q99437.
Bgee	Q99437.
CleanEx	HS_ATP6V0B.
Genevestigator	Q99437.
GermOnline	ENSG00000117410. Homo sapiens.
Family and domain databases
InterPro	IPR002379. ATPase_proteolipid_c_like_dom. IPR000245. ATPase_proteolipid_csu. [Graphical view]
Pfam	PF00137. ATP-synt_C. 2 hits. [Graphical view]
PRINTS	PR00122. VACATPASE.
SUPFAM	SSF81333. ATPase_F0/V0_c. 2 hits.
ProtoNet	Search...
Other
ChiTaRS	ATP6V0B. human.
GenomeRNAi	533.
NextBio	2211.
SOURCE	Search...

Entry information

Entry name

VATO_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 116 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.