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Protein

V-type proton ATPase subunit B, brain isoform

Gene

ATP6V1B2

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

Functioni

Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

GO - Molecular functioni

  • ATP binding Source: InterPro
  • hydrogen ion transmembrane transporter activity Source: ProtInc
  • proton-transporting ATPase activity, rotational mechanism Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS07429-MONOMER.
ZFISH:HS07429-MONOMER.
ReactomeiR-HSA-1222556. ROS, RNS production in response to bacteria.
R-HSA-77387. Insulin receptor recycling.
R-HSA-917977. Transferrin endocytosis and recycling.
R-HSA-983712. Ion channel transport.

Protein family/group databases

TCDBi3.A.2.2.4. the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
V-type proton ATPase subunit B, brain isoform
Short name:
V-ATPase subunit B 2
Alternative name(s):
Endomembrane proton pump 58 kDa subunit
HO57
Vacuolar proton pump subunit B 2
Gene namesi
Name:ATP6V1B2
Synonyms:ATP6B2, VPP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:854. ATP6V1B2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Zimmermann-Laband syndrome 2 (ZLS2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears.
See also OMIM:616455
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073962485R → P in ZLS2. 1 PublicationCorresponds to variant rs730882177dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi526.
MalaCardsiATP6V1B2.
MIMi616455. phenotype.
OpenTargetsiENSG00000147416.
Orphaneti79499. Autosomal dominant deafness-onychodystrophy syndrome.
PharmGKBiPA25155.

Chemistry databases

ChEMBLiCHEMBL5641.
DrugBankiDB05260. Gallium nitrate.
GuidetoPHARMACOLOGYi812.

Polymorphism and mutation databases

BioMutaiATP6V1B2.
DMDMi12643271.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001446261 – 511V-type proton ATPase subunit B, brain isoformAdd BLAST511

Proteomic databases

EPDiP21281.
MaxQBiP21281.
PaxDbiP21281.
PeptideAtlasiP21281.
PRIDEiP21281.

2D gel databases

REPRODUCTION-2DPAGEIPI00007812.

PTM databases

iPTMnetiP21281.
PhosphoSitePlusiP21281.
SwissPalmiP21281.

Expressioni

Gene expression databases

BgeeiENSG00000147416.
CleanExiHS_ATP6V1B2.
ExpressionAtlasiP21281. baseline and differential.
GenevisibleiP21281. HS.

Organism-specific databases

HPAiHPA008147.

Interactioni

Subunit structurei

V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein).

Binary interactionsi

WithEntry#Exp.IntActNotes
TCF4P158843EBI-4290814,EBI-533224

Protein-protein interaction databases

BioGridi107009. 114 interactors.
DIPiDIP-47433N.
IntActiP21281. 36 interactors.
MINTiMINT-5004128.
STRINGi9606.ENSP00000276390.

Chemistry databases

BindingDBiP21281.

Structurei

3D structure databases

ProteinModelPortaliP21281.
SMRiP21281.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ATPase alpha/beta chains family.Curated

Phylogenomic databases

eggNOGiKOG1351. Eukaryota.
COG1156. LUCA.
GeneTreeiENSGT00550000074724.
HOGENOMiHOG000165320.
HOVERGENiHBG002176.
InParanoidiP21281.
KOiK02147.
OMAiWRERRYL.
OrthoDBiEOG091G04TR.
PhylomeDBiP21281.
TreeFamiTF300313.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_00310. ATP_synth_B_arch. 1 hit.
InterProiIPR020003. ATPase_a/bsu_AS.
IPR004100. ATPase_F1/V1/A1_a/bsu_N.
IPR000194. ATPase_F1/V1/A1_a/bsu_nucl-bd.
IPR005723. ATPase_V1-cplx_bsu.
IPR027417. P-loop_NTPase.
IPR022879. V-ATPase_su_B/beta.
[Graphical view]
PfamiPF00006. ATP-synt_ab. 1 hit.
PF02874. ATP-synt_ab_N. 1 hit.
[Graphical view]
PIRSFiPIRSF039114. V-ATPsynth_beta/V-ATPase_B. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01040. V-ATPase_V1_B. 1 hit.
PROSITEiPS00152. ATPASE_ALPHA_BETA. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P21281-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MALRAMRGIV NGAAPELPVP TGGPAVGARE QALAVSRNYL SQPRLTYKTV
60 70 80 90 100
SGVNGPLVIL DHVKFPRYAE IVHLTLPDGT KRSGQVLEVS GSKAVVQVFE
110 120 130 140 150
GTSGIDAKKT SCEFTGDILR TPVSEDMLGR VFNGSGKPID RGPVVLAEDF
160 170 180 190 200
LDIMGQPINP QCRIYPEEMI QTGISAIDGM NSIARGQKIP IFSAAGLPHN
210 220 230 240 250
EIAAQICRQA GLVKKSKDVV DYSEENFAIV FAAMGVNMET ARFFKSDFEE
260 270 280 290 300
NGSMDNVCLF LNLANDPTIE RIITPRLALT TAEFLAYQCE KHVLVILTDM
310 320 330 340 350
SSYAEALREV SAAREEVPGR RGFPGYMYTD LATIYERAGR VEGRNGSITQ
360 370 380 390 400
IPILTMPNDD ITHPIPDLTG YITEGQIYVD RQLHNRQIYP PINVLPSLSR
410 420 430 440 450
LMKSAIGEGM TRKDHADVSN QLYACYAIGK DVQAMKAVVG EEALTSDDLL
460 470 480 490 500
YLEFLQKFER NFIAQGPYEN RTVFETLDIG WQLLRIFPKE MLKRIPQSTL
510
SEFYPRDSAK H
Length:511
Mass (Da):56,501
Last modified:December 1, 2000 - v3
Checksum:iE01E85BBA36E5DED
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti28A → S in CAA44721 (PubMed:1373501).Curated1
Sequence conflicti29R → Q in AAH30640 (PubMed:15489334).Curated1
Sequence conflicti171Q → R in AAH30640 (PubMed:15489334).Curated1
Sequence conflicti342E → G in AAH30640 (PubMed:15489334).Curated1
Sequence conflicti376Q → L in AAA58661 (PubMed:7945239).Curated1
Sequence conflicti424 – 425AC → RA in AAA35610 (PubMed:2145275).Curated2
Sequence conflicti435M → V in AAA35610 (PubMed:2145275).Curated1
Sequence conflicti510 – 511KH → ND in AAA35610 (PubMed:2145275).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073962485R → P in ZLS2. 1 PublicationCorresponds to variant rs730882177dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M60346 mRNA. Translation: AAA35610.1.
L35249 mRNA. Translation: AAA58661.1.
AK312372 mRNA. Translation: BAG35290.1.
CH471080 Genomic DNA. Translation: EAW63758.1.
CH471080 Genomic DNA. Translation: EAW63759.1.
BC003100 mRNA. Translation: AAH03100.1.
BC007309 mRNA. Translation: AAH07309.1.
BC030640 mRNA. Translation: AAH30640.1.
Z37165 Genomic DNA. Translation: CAA85522.1.
X62949 mRNA. Translation: CAA44721.1.
CCDSiCCDS6014.1.
PIRiB44138.
I39208.
RefSeqiNP_001684.2. NM_001693.3.
UniGeneiHs.295917.

Genome annotation databases

EnsembliENST00000276390; ENSP00000276390; ENSG00000147416.
GeneIDi526.
KEGGihsa:526.
UCSCiuc003wzp.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M60346 mRNA. Translation: AAA35610.1.
L35249 mRNA. Translation: AAA58661.1.
AK312372 mRNA. Translation: BAG35290.1.
CH471080 Genomic DNA. Translation: EAW63758.1.
CH471080 Genomic DNA. Translation: EAW63759.1.
BC003100 mRNA. Translation: AAH03100.1.
BC007309 mRNA. Translation: AAH07309.1.
BC030640 mRNA. Translation: AAH30640.1.
Z37165 Genomic DNA. Translation: CAA85522.1.
X62949 mRNA. Translation: CAA44721.1.
CCDSiCCDS6014.1.
PIRiB44138.
I39208.
RefSeqiNP_001684.2. NM_001693.3.
UniGeneiHs.295917.

3D structure databases

ProteinModelPortaliP21281.
SMRiP21281.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107009. 114 interactors.
DIPiDIP-47433N.
IntActiP21281. 36 interactors.
MINTiMINT-5004128.
STRINGi9606.ENSP00000276390.

Chemistry databases

BindingDBiP21281.
ChEMBLiCHEMBL5641.
DrugBankiDB05260. Gallium nitrate.
GuidetoPHARMACOLOGYi812.

Protein family/group databases

TCDBi3.A.2.2.4. the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily.

PTM databases

iPTMnetiP21281.
PhosphoSitePlusiP21281.
SwissPalmiP21281.

Polymorphism and mutation databases

BioMutaiATP6V1B2.
DMDMi12643271.

2D gel databases

REPRODUCTION-2DPAGEIPI00007812.

Proteomic databases

EPDiP21281.
MaxQBiP21281.
PaxDbiP21281.
PeptideAtlasiP21281.
PRIDEiP21281.

Protocols and materials databases

DNASUi526.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000276390; ENSP00000276390; ENSG00000147416.
GeneIDi526.
KEGGihsa:526.
UCSCiuc003wzp.4. human.

Organism-specific databases

CTDi526.
DisGeNETi526.
GeneCardsiATP6V1B2.
HGNCiHGNC:854. ATP6V1B2.
HPAiHPA008147.
MalaCardsiATP6V1B2.
MIMi606939. gene.
616455. phenotype.
neXtProtiNX_P21281.
OpenTargetsiENSG00000147416.
Orphaneti79499. Autosomal dominant deafness-onychodystrophy syndrome.
PharmGKBiPA25155.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1351. Eukaryota.
COG1156. LUCA.
GeneTreeiENSGT00550000074724.
HOGENOMiHOG000165320.
HOVERGENiHBG002176.
InParanoidiP21281.
KOiK02147.
OMAiWRERRYL.
OrthoDBiEOG091G04TR.
PhylomeDBiP21281.
TreeFamiTF300313.

Enzyme and pathway databases

BioCyciMetaCyc:HS07429-MONOMER.
ZFISH:HS07429-MONOMER.
ReactomeiR-HSA-1222556. ROS, RNS production in response to bacteria.
R-HSA-77387. Insulin receptor recycling.
R-HSA-917977. Transferrin endocytosis and recycling.
R-HSA-983712. Ion channel transport.

Miscellaneous databases

ChiTaRSiATP6V1B2. human.
GeneWikiiATP6V1B2.
GenomeRNAii526.
PROiP21281.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147416.
CleanExiHS_ATP6V1B2.
ExpressionAtlasiP21281. baseline and differential.
GenevisibleiP21281. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_00310. ATP_synth_B_arch. 1 hit.
InterProiIPR020003. ATPase_a/bsu_AS.
IPR004100. ATPase_F1/V1/A1_a/bsu_N.
IPR000194. ATPase_F1/V1/A1_a/bsu_nucl-bd.
IPR005723. ATPase_V1-cplx_bsu.
IPR027417. P-loop_NTPase.
IPR022879. V-ATPase_su_B/beta.
[Graphical view]
PfamiPF00006. ATP-synt_ab. 1 hit.
PF02874. ATP-synt_ab_N. 1 hit.
[Graphical view]
PIRSFiPIRSF039114. V-ATPsynth_beta/V-ATPase_B. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01040. V-ATPase_V1_B. 1 hit.
PROSITEiPS00152. ATPASE_ALPHA_BETA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVATB2_HUMAN
AccessioniPrimary (citable) accession number: P21281
Secondary accession number(s): B2R5Z3
, D3DSQ5, Q14544, Q15859, Q96IR0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: December 1, 2000
Last modified: November 30, 2016
This is version 180 of the entry and version 3 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 8
    Human chromosome 8: 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

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 one 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.