Details for: ATP6V1B1

Gene ID: 525

Symbol: ATP6V1B1

Ensembl ID: ENSG00000116039

Description: ATPase H+ transporting V1 subunit B1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 16.8216
    Cell Significance Index: 64.4100
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 5.7810
    Cell Significance Index: 19.8500
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 3.9254
    Cell Significance Index: 2.8100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 2.7966
    Cell Significance Index: -2.6700
  • Cell Name: salivary gland glandular cell (CL1001596)
    Fold Change: 1.9646
    Cell Significance Index: 10.9400
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 1.0635
    Cell Significance Index: 2.4000
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 1.0623
    Cell Significance Index: 8.4800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.4893
    Cell Significance Index: -1.0700
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.2753
    Cell Significance Index: 2.8400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2559
    Cell Significance Index: 3.6700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.2492
    Cell Significance Index: 1.9900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2211
    Cell Significance Index: 28.5600
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.2014
    Cell Significance Index: 2.5500
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 0.1024
    Cell Significance Index: 2.1400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.0940
    Cell Significance Index: 0.7100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0884
    Cell Significance Index: 2.2700
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.0716
    Cell Significance Index: 0.8000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0638
    Cell Significance Index: 4.0200
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.0336
    Cell Significance Index: 0.3200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0330
    Cell Significance Index: 4.2300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0322
    Cell Significance Index: 17.5700
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.0281
    Cell Significance Index: 0.4800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0180
    Cell Significance Index: 0.8400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0168
    Cell Significance Index: 0.2000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0161
    Cell Significance Index: 0.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0146
    Cell Significance Index: 0.8200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0145
    Cell Significance Index: 0.7600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0093
    Cell Significance Index: 0.1600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0077
    Cell Significance Index: 5.6300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0058
    Cell Significance Index: 0.4300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0019
    Cell Significance Index: 0.3900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0015
    Cell Significance Index: 0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0004
    Cell Significance Index: -0.8400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0011
    Cell Significance Index: -0.7000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0012
    Cell Significance Index: -2.1300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0013
    Cell Significance Index: -1.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0016
    Cell Significance Index: -2.2000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0017
    Cell Significance Index: -0.0800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0028
    Cell Significance Index: -2.1500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0035
    Cell Significance Index: -2.6200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0038
    Cell Significance Index: -1.6900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0040
    Cell Significance Index: -0.6800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0044
    Cell Significance Index: -2.5000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0056
    Cell Significance Index: -2.0300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0061
    Cell Significance Index: -2.7700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0094
    Cell Significance Index: -1.8700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0095
    Cell Significance Index: -2.7300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0099
    Cell Significance Index: -1.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0107
    Cell Significance Index: -1.9300
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: -0.0114
    Cell Significance Index: -0.1100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0124
    Cell Significance Index: -1.4200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0131
    Cell Significance Index: -2.7500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0136
    Cell Significance Index: -1.8700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0157
    Cell Significance Index: -2.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0182
    Cell Significance Index: -0.5100
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0209
    Cell Significance Index: -0.3000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0214
    Cell Significance Index: -2.6400
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.0214
    Cell Significance Index: -0.2800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0215
    Cell Significance Index: -1.7000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0238
    Cell Significance Index: -2.4800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0279
    Cell Significance Index: -0.6100
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: -0.0290
    Cell Significance Index: -0.2400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0348
    Cell Significance Index: -2.1400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0367
    Cell Significance Index: -2.4700
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0376
    Cell Significance Index: -0.5200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0394
    Cell Significance Index: -2.7900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0432
    Cell Significance Index: -2.6500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0435
    Cell Significance Index: -0.6900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0441
    Cell Significance Index: -1.3000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0450
    Cell Significance Index: -1.0400
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0455
    Cell Significance Index: -0.6600
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: -0.0476
    Cell Significance Index: -0.4400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0478
    Cell Significance Index: -1.3000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0487
    Cell Significance Index: -1.3000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0492
    Cell Significance Index: -2.2300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0501
    Cell Significance Index: -1.8400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0513
    Cell Significance Index: -2.6700
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0531
    Cell Significance Index: -0.5800
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0545
    Cell Significance Index: -0.4500
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0545
    Cell Significance Index: -0.7700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0554
    Cell Significance Index: -2.8000
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: -0.0558
    Cell Significance Index: -0.4800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0562
    Cell Significance Index: -1.9700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0575
    Cell Significance Index: -1.8300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0576
    Cell Significance Index: -0.8500
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.0578
    Cell Significance Index: -0.6800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0596
    Cell Significance Index: -1.9500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0597
    Cell Significance Index: -1.4900
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0600
    Cell Significance Index: -0.5700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0601
    Cell Significance Index: -2.6600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0614
    Cell Significance Index: -2.5200
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0644
    Cell Significance Index: -0.5800
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0682
    Cell Significance Index: -1.1800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0713
    Cell Significance Index: -2.7000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0718
    Cell Significance Index: -2.2700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0750
    Cell Significance Index: -0.5100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0757
    Cell Significance Index: -2.1800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0763
    Cell Significance Index: -1.4900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0768
    Cell Significance Index: -1.2900
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0788
    Cell Significance Index: -1.5400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The ATP6V1B1 gene exhibits the following key characteristics: 1. **Proton-pumping enzyme**: ATP6V1B1 is a member of the V-type proton ATPase family, which pumps protons across cellular membranes to regulate pH levels and maintain cellular homeostasis. 2. **High expression in multiple cell types**: The gene is highly expressed in various cell types, including kidney collecting duct intercalated cells, placental villous trophoblasts, and immune system cells. 3. **Multiple cellular functions**: ATP6V1B1 participates in various cellular processes, including ion and acid-base homeostasis, cellular responses to stimuli, and signaling pathways. 4. **Regulation of gene expression**: The gene is involved in the regulation of gene expression, particularly in response to changes in cellular conditions. **Pathways and Functions** ATP6V1B1 is involved in several key pathways and functions, including: 1. **Ion and acid-base homeostasis**: The gene helps regulate pH levels and maintain ion balance in various cell types, including kidney collecting duct intercalated cells. 2. **Cellular responses to stimuli**: ATP6V1B1 participates in signaling pathways that respond to changes in cellular conditions, such as osmotic stress or nutrient availability. 3. **Immune system function**: The gene is expressed in immune system cells and plays a role in regulating immune responses, including the production of ROS and RNS. 4. **Cellular responses to starvation**: ATP6V1B1 is involved in the regulation of gene expression in response to starvation, helping cells adapt to changes in energy availability. 5. **Signaling by insulin receptor and receptor tyrosine kinases**: The gene is involved in signaling pathways that respond to insulin and other growth factors. **Clinical Significance** Dysregulation of the ATP6V1B1 gene has been implicated in various diseases, including: 1. **Kidney disorders**: Mutations in the ATP6V1B1 gene have been associated with kidney disorders, such as nephrotic syndrome and kidney failure. 2. **Immune system dysfunctions**: The gene is involved in the regulation of immune responses, and dysregulation has been implicated in autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. 3. **Metabolic disorders**: ATP6V1B1 plays a role in regulating cellular responses to changes in energy availability, and dysregulation has been implicated in metabolic disorders, such as diabetes and obesity. 4. **Neurological disorders**: The gene is expressed in neurons and has been implicated in the regulation of synaptic function and neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. In conclusion, the ATP6V1B1 gene plays a crucial role in maintaining cellular homeostasis and regulating various cellular processes, including ion and acid-base homeostasis, cellular responses to stimuli, and immune system function. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 1118953962

Symbol: VATB1_HUMAN

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

UniProtKB Accession Codes:

P15313 Q53FY0 Q6P4H6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CTD 1 ChEBI 1 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 36 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 5 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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.