Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

V-type proton ATPase subunit B, kidney isoform

Gene

ATP6V1B1

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
  • hydrolase activity Source: UniProtKB-KW
  • proton transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  • ATP hydrolysis coupled proton transport Source: InterPro
  • ATP metabolic process Source: InterPro
  • calcium ion homeostasis Source: UniProtKB
  • excretion Source: UniProtKB
  • inner ear morphogenesis Source: UniProtKB
  • insulin receptor signaling pathway Source: Reactome
  • ion transmembrane transport Source: Reactome
  • ossification Source: HGNC
  • phagosome acidification Source: Reactome
  • pH reduction Source: UniProtKB
  • proton transmembrane transport Source: HGNC
  • regulation of macroautophagy Source: ParkinsonsUK-UCL
  • regulation of pH Source: HGNC
  • sensory perception of sound Source: UniProtKB
  • transferrin transport Source: Reactome

Keywordsi

Molecular functionHydrolase
Biological processHydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS03975-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, kidney isoform
Short name:
V-ATPase subunit B 1
Alternative name(s):
Endomembrane proton pump 58 kDa subunit
Vacuolar proton pump subunit B 1
Gene namesi
Name:ATP6V1B1
Synonyms:ATP6B1, VATB, VPP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000116039.11
HGNCiHGNC:853 ATP6V1B1
MIMi192132 gene
neXtProtiNX_P15313

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

Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.
See also OMIM:267300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00786681L → P in dRTA-D. 3 PublicationsCorresponds to variant dbSNP:rs121964880Ensembl.1
Natural variantiVAR_021012123G → V in dRTA-D. 1 Publication1
Natural variantiVAR_007867124R → W in dRTA-D. 1 PublicationCorresponds to variant dbSNP:rs727505222Ensembl.1
Natural variantiVAR_021013157R → C in dRTA-D. 1 PublicationCorresponds to variant dbSNP:rs782500780Ensembl.1
Natural variantiVAR_007868174M → R in dRTA-D. 1 Publication1
Natural variantiVAR_007869275T → P in dRTA-D. 2 Publications1
Natural variantiVAR_007870316G → E in dRTA-D. 1 Publication1
Natural variantiVAR_007871346P → R in dRTA-D. 3 PublicationsCorresponds to variant dbSNP:rs781838938Ensembl.1
Natural variantiVAR_007872364G → S in dRTA-D. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi513L → G: Loss of interactions with SLC9A3R1 and SCL4A7. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi525
MalaCardsiATP6V1B1
MIMi267300 phenotype
OpenTargetsiENSG00000116039
Orphaneti402041 Autosomal recessive distal renal tubular acidosis
PharmGKBiPA25154

Chemistry databases

ChEMBLiCHEMBL3217

Polymorphism and mutation databases

BioMutaiATP6V1B1
DMDMi215274116

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001446241 – 513V-type proton ATPase subunit B, kidney isoformAdd BLAST513

Proteomic databases

MaxQBiP15313
PaxDbiP15313
PeptideAtlasiP15313
PRIDEiP15313

PTM databases

iPTMnetiP15313
PhosphoSitePlusiP15313

Expressioni

Tissue specificityi

Expressed in the cochlea and endolymphatic sac.1 Publication

Gene expression databases

BgeeiENSG00000116039
CleanExiHS_ATP6V1B1
ExpressionAtlasiP15313 baseline and differential
GenevisibleiP15313 HS

Organism-specific databases

HPAiCAB009523
HPA031847

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). Forms a complex with SLC9A3R1 and SCL4A7.

Protein-protein interaction databases

BioGridi10700895 interactors.
IntActiP15313 5 interactors.
MINTiP15313
STRINGi9606.ENSP00000234396

Chemistry databases

BindingDBiP15313

Structurei

3D structure databases

ProteinModelPortaliP15313
SMRiP15313
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi510 – 513PDZ-binding4

Domaini

The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7.1 Publication

Sequence similaritiesi

Belongs to the ATPase alpha/beta chains family.Curated

Phylogenomic databases

eggNOGiKOG1351 Eukaryota
COG1156 LUCA
GeneTreeiENSGT00550000074724
HOGENOMiHOG000165320
HOVERGENiHBG002176
InParanoidiP15313
KOiK02147
OMAiQVKFAQY
OrthoDBiEOG091G04TR
PhylomeDBiP15313
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.

P15313-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAMEIDSRPG GLPGSSCNLG AAREHMQAVT RNYITHPRVT YRTVCSVNGP
60 70 80 90 100
LVVLDRVKFA QYAEIVHFTL PDGTQRSGQV LEVAGTKAIV QVFEGTSGID
110 120 130 140 150
ARKTTCEFTG DILRTPVSED MLGRVFNGSG KPIDKGPVVM AEDFLDINGQ
160 170 180 190 200
PINPHSRIYP EEMIQTGISP IDVMNSIARG QKIPIFSAAG LPHNEIAAQI
210 220 230 240 250
CRQAGLVKKS KAVLDYHDDN FAIVFAAMGV NMETARFFKS DFEQNGTMGN
260 270 280 290 300
VCLFLNLAND PTIERIITPR LALTTAEFLA YQCEKHVLVI LTDMSSYAEA
310 320 330 340 350
LREVSAAREE VPGRRGFPGY MYTDLATIYE RAGRVEGRGG SITQIPILTM
360 370 380 390 400
PNDDITHPIP DLTGFITEGQ IYVDRQLHNR QIYPPINVLP SLSRLMKSAI
410 420 430 440 450
GEGMTRKDHG DVSNQLYACY AIGKDVQAMK AVVGEEALTS EDLLYLEFLQ
460 470 480 490 500
KFEKNFINQG PYENRSVFES LDLGWKLLRI FPKEMLKRIP QAVIDEFYSR
510
EGALQDLAPD TAL
Length:513
Mass (Da):56,833
Last modified:November 25, 2008 - v3
Checksum:i5399E2849F3B99AA
GO

Sequence cautioni

The sequence AAA36498 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti467V → M in AAA36498 (PubMed:2527371).Curated1
Sequence conflicti474G → S in AAA36498 (PubMed:2527371).Curated1
Sequence conflicti503A → R in AAA36498 (PubMed:2527371).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02101130T → I2 PublicationsCorresponds to variant dbSNP:rs17720303Ensembl.1
Natural variantiVAR_00786681L → P in dRTA-D. 3 PublicationsCorresponds to variant dbSNP:rs121964880Ensembl.1
Natural variantiVAR_021012123G → V in dRTA-D. 1 Publication1
Natural variantiVAR_007867124R → W in dRTA-D. 1 PublicationCorresponds to variant dbSNP:rs727505222Ensembl.1
Natural variantiVAR_021013157R → C in dRTA-D. 1 PublicationCorresponds to variant dbSNP:rs782500780Ensembl.1
Natural variantiVAR_021014161E → K1 PublicationCorresponds to variant dbSNP:rs114234874Ensembl.1
Natural variantiVAR_007868174M → R in dRTA-D. 1 Publication1
Natural variantiVAR_007869275T → P in dRTA-D. 2 Publications1
Natural variantiVAR_007870316G → E in dRTA-D. 1 Publication1
Natural variantiVAR_007871346P → R in dRTA-D. 3 PublicationsCorresponds to variant dbSNP:rs781838938Ensembl.1
Natural variantiVAR_007872364G → S in dRTA-D. 1 Publication1
Natural variantiVAR_021015465R → H2 PublicationsCorresponds to variant dbSNP:rs142905621Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M25809 mRNA Translation: AAA36498.1 Different initiation.
AK291121 mRNA Translation: BAF83810.1
AK313194 mRNA Translation: BAG36011.1
AK223151 mRNA Translation: BAD96871.1
CH471053 Genomic DNA Translation: EAW99790.1
BC063411 mRNA Translation: AAH63411.1
CCDSiCCDS1912.1
PIRiA33281
RefSeqiNP_001683.2, NM_001692.3
UniGeneiHs.64173

Genome annotation databases

EnsembliENST00000234396; ENSP00000234396; ENSG00000116039
GeneIDi525
KEGGihsa:525
UCSCiuc002shj.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiVATB1_HUMAN
AccessioniPrimary (citable) accession number: P15313
Secondary accession number(s): Q53FY0, Q6P4H6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: November 25, 2008
Last modified: April 25, 2018
This is version 193 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