ATP6V1B2 | ENSG00000147416 | NCBI 526

Details for: ATP6V1B2

Gene ID: 526

Symbol: ATP6V1B2

Ensembl ID: ENSG00000147416

Description: ATPase H+ transporting V1 subunit B2

Associated with

Amino acids regulate mtorc1
(R-HSA-9639288)
Cellular responses to stimuli
(R-HSA-8953897)
Cellular responses to stress
(R-HSA-2262752)
Cellular response to starvation
(R-HSA-9711097)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Insulin receptor recycling
(R-HSA-77387)
Ion channel transport
(R-HSA-983712)
Iron uptake and transport
(R-HSA-917937)
Ros and rns production in phagocytes
(R-HSA-1222556)
Signaling by insulin receptor
(R-HSA-74752)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
Transferrin endocytosis and recycling
(R-HSA-917977)
Transport of small molecules
(R-HSA-382551)
Apical plasma membrane
(GO:0016324)
Atp binding
(GO:0005524)
Atp metabolic process
(GO:0046034)
Clathrin-coated vesicle membrane
(GO:0030665)
Cytosol
(GO:0005829)
Extracellular exosome
(GO:0070062)
Extrinsic component of synaptic vesicle membrane
(GO:0098850)
Intracellular membrane-bounded organelle
(GO:0043231)
Lysosomal membrane
(GO:0005765)
Melanosome
(GO:0042470)
Microvillus
(GO:0005902)
Plasma membrane
(GO:0005886)
Protein binding
(GO:0005515)
Proton-transporting atpase activity, rotational mechanism
(GO:0046961)
Proton transmembrane transport
(GO:1902600)
Proton transmembrane transporter activity
(GO:0015078)
Regulation of macroautophagy
(GO:0016241)
Ruffle
(GO:0001726)
Synaptic vesicle lumen acidification
(GO:0097401)
Vacuolar acidification
(GO:0007035)
Vacuolar proton-transporting v-type atpase, v1 domain
(GO:0000221)

Other Information

Proteins

V-type proton ATPase subunit B, brain isoform

Genular Protein ID: 2685274077

Symbol: VATB2_HUMAN

Name: V-type proton ATPase subunit B, brain isoform

UniProtKB Accession Codes:

P21281 B2R5Z3 D3DSQ5 Q14544 Q15859 Q96IR0

Database IDs:

Citations:

PubMed ID: 1373501

Title: Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells.

PubMed ID: 1373501

DOI: 10.1073/pnas.89.8.3541

PubMed ID: 7945239

Title: Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms.

PubMed ID: 7945239

DOI: 10.1042/bj3030191

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7706273

Title: Transcriptional regulation of the vacuolar H(+)-ATPase B2 subunit gene in differentiating THP-1 cells.

PubMed ID: 7706273

DOI: 10.1074/jbc.270.13.7320

PubMed ID: 2145275

Title: An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase.

PubMed ID: 2145275

DOI: 10.1016/s0021-9258(18)38179-1

PubMed ID: 12643545

Title: Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.

PubMed ID: 12643545

DOI: 10.1021/pr025562r

PubMed ID: 17081065

Title: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.

PubMed ID: 17081065

DOI: 10.1021/pr060363j

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24913193

Title: De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.

PubMed ID: 24913193

DOI: 10.1038/cr.2014.77

PubMed ID: 25915598

Title: Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

PubMed ID: 25915598

DOI: 10.1038/ng.3282

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29993276

Title: H+-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney.

PubMed ID: 29993276

DOI: 10.1152/ajprenal.00539.2017

PubMed ID: 32001091

Title: Structure and Roles of V-type ATPases.

PubMed ID: 32001091

DOI: 10.1016/j.tibs.2019.12.007

PubMed ID: 33065002

Title: Structures of a Complete Human V-ATPase Reveal Mechanisms of Its Assembly.

PubMed ID: 33065002

DOI: 10.1016/j.molcel.2020.09.029

Sequence Information:

Length: 511
Mass: 56501
Checksum: E01E85BBA36E5DED
Sequence:

MALRAMRGIV NGAAPELPVP TGGPAVGARE QALAVSRNYL SQPRLTYKTV SGVNGPLVIL 
DHVKFPRYAE IVHLTLPDGT KRSGQVLEVS GSKAVVQVFE GTSGIDAKKT SCEFTGDILR 
TPVSEDMLGR VFNGSGKPID RGPVVLAEDF LDIMGQPINP QCRIYPEEMI QTGISAIDGM 
NSIARGQKIP IFSAAGLPHN EIAAQICRQA GLVKKSKDVV DYSEENFAIV FAAMGVNMET 
ARFFKSDFEE NGSMDNVCLF LNLANDPTIE RIITPRLALT TAEFLAYQCE KHVLVILTDM 
SSYAEALREV SAAREEVPGR RGFPGYMYTD LATIYERAGR VEGRNGSITQ IPILTMPNDD 
ITHPIPDLTG YITEGQIYVD RQLHNRQIYP PINVLPSLSR LMKSAIGEGM TRKDHADVSN 
QLYACYAIGK DVQAMKAVVG EEALTSDDLL YLEFLQKFER NFIAQGPYEN RTVFETLDIG 
WQLLRIFPKE MLKRIPQSTL SEFYPRDSAK H

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ATP6V1B2

Associated with

Other Information

Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells. PubMed ID: 1373501

Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms. PubMed ID: 7945239

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Transcriptional regulation of the vacuolar H(+)-ATPase B2 subunit gene in differentiating THP-1 cells. PubMed ID: 7706273

An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase. PubMed ID: 2145275

Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. PubMed ID: 12643545

Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. PubMed ID: 17081065

Initial characterization of the human central proteome. PubMed ID: 21269460

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. PubMed ID: 24913193

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. PubMed ID: 25915598

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

H+-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney. PubMed ID: 29993276

Structure and Roles of V-type ATPases. PubMed ID: 32001091

Structures of a Complete Human V-ATPase Reveal Mechanisms of Its Assembly. PubMed ID: 33065002