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Protein

V-type proton ATPase subunit B, brain isoform

Gene

ATP6V1B2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • proton transmembrane transporter activity Source: ProtInc
  • proton-transporting ATPase activity, rotational mechanism Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processHydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS07429-MONOMER
ReactomeiR-HSA-1222556 ROS, RNS production in phagocytes
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

EuPathDBiHostDB:ENSG00000147416.10
HGNCiHGNC:854 ATP6V1B2
MIMi606939 gene
neXtProtiNX_P21281

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Zimmermann-Laband syndrome 2 (ZLS2)1 Publication
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 dbSNP:rs730882177Ensembl.1
Deafness, congenital, with onychodystrophy, autosomal dominant (DDOD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients.
See also OMIM:124480

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi526
MalaCardsiATP6V1B2
MIMi124480 phenotype
616455 phenotype
OpenTargetsiENSG00000147416
Orphaneti79499 Autosomal dominant deafness-onychodystrophy syndrome
PharmGKBiPA25155

Chemistry databases

ChEMBLiCHEMBL5641
DrugBankiDB07347 4-(2-AMINOETHYL)BENZENESULFONYL FLUORIDE
DB05260 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-2DPAGEiIPI00007812

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

BioGridi107009117 interactors.
DIPiDIP-47433N
IntActiP21281 39 interactors.
MINTiP21281
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
OMAiSQGAYEN
OrthoDBiEOG091G04TR
PhylomeDBiP21281
TreeFamiTF300313

Family and domain databases

HAMAPiMF_00310 ATP_synth_B_arch, 1 hit
InterProiView protein in InterPro
IPR020003 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
PANTHERiPTHR43389 PTHR43389, 1 hit
PfamiView protein in Pfam
PF00006 ATP-synt_ab, 1 hit
PF02874 ATP-synt_ab_N, 1 hit
PIRSFiPIRSF039114 V-ATPsynth_beta/V-ATPase_B, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR01040 V-ATPase_V1_B, 1 hit
PROSITEiView protein in PROSITE
PS00152 ATPASE_ALPHA_BETA, 1 hit

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 dbSNP:rs730882177Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiVATB2_HUMAN
AccessioniPrimary (citable) accession number: P21281
Secondary accession number(s): B2R5Z3
, D3DSQ5, Q14544, Q15859, Q96IR0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: December 1, 2000
Last modified: April 25, 2018
This is version 189 of the entry and version 3 of the sequence. See 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