ATP6V1B1 | ENSG00000116039 | NCBI 525

Details for: ATP6V1B1

Gene ID: 525

Symbol: ATP6V1B1

Ensembl ID: ENSG00000116039

Description: ATPase H+ transporting V1 subunit B1

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)
Adult behavior
(GO:0030534)
Apical plasma membrane
(GO:0016324)
Atp binding
(GO:0005524)
Atp metabolic process
(GO:0046034)
Basolateral plasma membrane
(GO:0016323)
Calcium ion homeostasis
(GO:0055074)
Chloride ion homeostasis
(GO:0055064)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Extracellular exosome
(GO:0070062)
Extrinsic component of synaptic vesicle membrane
(GO:0098850)
Inner ear morphogenesis
(GO:0042472)
Lateral plasma membrane
(GO:0016328)
Microvillus
(GO:0005902)
Olfactory behavior
(GO:0042048)
Ossification
(GO:0001503)
Ph reduction
(GO:0045851)
Potassium ion homeostasis
(GO:0055075)
Prostaglandin metabolic process
(GO:0006693)
Protein-containing complex binding
(GO:0044877)
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 gene expression
(GO:0010468)
Regulation of macroautophagy
(GO:0016241)
Regulation of ph
(GO:0006885)
Renal sodium excretion
(GO:0035812)
Renal sodium ion transport
(GO:0003096)
Renal tubular secretion
(GO:0097254)
Renal water homeostasis
(GO:0003091)
Sensory perception of sound
(GO:0007605)
Synaptic vesicle lumen acidification
(GO:0097401)
Vacuolar acidification
(GO:0007035)
Vacuolar proton-transporting v-type atpase, v1 domain
(GO:0000221)
Vacuolar proton-transporting v-type atpase complex
(GO:0016471)
Vacuolar proton-transporting v-type atpase complex assembly
(GO:0070072)

Other Information

Proteins

V-type proton ATPase subunit B, kidney isoform

Genular Protein ID: 1118953962

Symbol: VATB1_HUMAN

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

UniProtKB Accession Codes:

P15313 Q53FY0 Q6P4H6

Database IDs:

Citations:

PubMed ID: 2527371

Title: Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria.

PubMed ID: 2527371

DOI: 10.1073/pnas.86.16.6067

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: 12444018

Title: The COOH termini of NBC3 and the 56-kDa H+-ATPase subunit are PDZ motifs involved in their interaction.

PubMed ID: 12444018

DOI: 10.1152/ajpcell.00225.2002

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: 9916796

Title: Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

PubMed ID: 9916796

DOI: 10.1038/5022

PubMed ID: 12414817

Title: Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

PubMed ID: 12414817

DOI: 10.1136/jmg.39.11.796

PubMed ID: 12579397

Title: Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.

PubMed ID: 12579397

DOI: 10.1007/s00467-002-1018-8

PubMed ID: 16769747

Title: Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells.

PubMed ID: 16769747

DOI: 10.1681/asn.2005121277

PubMed ID: 19478356

Title: Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.

PubMed ID: 19478356

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

Length: 513
Mass: 56833
Checksum: 5399E2849F3B99AA
Sequence:

MAMEIDSRPG GLPGSSCNLG AAREHMQAVT RNYITHPRVT YRTVCSVNGP LVVLDRVKFA 
QYAEIVHFTL PDGTQRSGQV LEVAGTKAIV QVFEGTSGID ARKTTCEFTG DILRTPVSED 
MLGRVFNGSG KPIDKGPVVM AEDFLDINGQ PINPHSRIYP EEMIQTGISP IDVMNSIARG 
QKIPIFSAAG LPHNEIAAQI CRQAGLVKKS KAVLDYHDDN FAIVFAAMGV NMETARFFKS 
DFEQNGTMGN VCLFLNLAND PTIERIITPR LALTTAEFLA YQCEKHVLVI LTDMSSYAEA 
LREVSAAREE VPGRRGFPGY MYTDLATIYE RAGRVEGRGG SITQIPILTM PNDDITHPIP 
DLTGFITEGQ IYVDRQLHNR QIYPPINVLP SLSRLMKSAI GEGMTRKDHG DVSNQLYACY 
AIGKDVQAMK AVVGEEALTS EDLLYLEFLQ KFEKNFINQG PYENRSVFES LDLGWKLLRI 
FPKEMLKRIP QAVIDEFYSR EGALQDLAPD TAL

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: ATP6V1B1

Associated with

Other Information

Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria. PubMed ID: 2527371

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

The COOH termini of NBC3 and the 56-kDa H+-ATPase subunit are PDZ motifs involved in their interaction. PubMed ID: 12444018

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

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. PubMed ID: 9916796

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. PubMed ID: 12414817

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. PubMed ID: 12579397

Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells. PubMed ID: 16769747

Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness. PubMed ID: 19478356

Analysis of protein-coding genetic variation in 60,706 humans. PubMed ID: 27535533