Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v1b1provided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V1 subunit B1provided by MGI
Primary source: MGI:MGI:103285
See related: Ensembl:ENSMUSG00000006269 AllianceGenome:MGI:103285
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Vpp3; Vpp-3; Atp6b1; D630003L15; D630030L16Rik; D630039P21Rik
Summary: Enables proton transmembrane transporter activity. Involved in regulation of pH and synaptic vesicle lumen acidification. Acts upstream of or within several processes, including renal sodium excretion; renal sodium ion transport; and renal water homeostasis. Located in several cellular components, including basolateral plasma membrane; lateral plasma membrane; and microvillus. Is expressed in several structures, including limb; lower jaw; metanephros; nervous system; and sensory organ. Used to study autosomal recessive nonsyndromic deafness and enlarged vestibular aqueduct. Human ortholog(s) of this gene implicated in renal tubular acidosis. Orthologous to human ATP6V1B1 (ATPase H+ transporting V1 subunit B1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in kidney adult (RPKM 52.9), mammary gland adult (RPKM 17.0) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 C3; 6 35.94 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (83719999..83735837)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (83743017..83758855)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The B1 H + -ATPase (Atp6v1b1) Subunit in Non-Type A Intercalated Cells is Required for Driving Pendrin Activity and the Renal Defense Against Alkalosis.
Title: The B1 H + -ATPase ( Atp6v1b1 ) Subunit in Non-Type A Intercalated Cells is Required for Driving Pendrin Activity and the Renal Defense Against Alkalosis.
involvement of ICs in water homeostasis, at least partly mediated by V-ATPase, in a sex-dependent manner
Title: Sex-dependent differences in water homeostasis in wild-type and V-ATPase B1-subunit deficient mice.
ATP6V1B1 is expressed in the early distal nephron. The physiological importance of H(+)-ATPase expression in these segments remains to be delineated.
Title: H(+)-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney.
RhCG and H+ATPases are located within the same cellular protein complex in the kidney and this interaction is required for maximal urinary acidification by H+-ATPases, a prerequisite for efficient NH3 secretion and urine excretion of NH4+.
Title: The ammonia transporter RhCG modulates urinary acidification by interacting with the vacuolar proton-ATPases in renal intercalated cells.
1) Atp6v1b1+/- mice developed a mild incomplete dRTA. dRTA is partly compensated by respiration. 2) Compensatory mechanisms for the absence of B1 take place only in the collecting duct of Atp6v1b1-/- kidneys.
Title: Haploinsufficiency of the Mouse Atp6v1b1 Gene Leads to a Mild Acid-Base Disturbance with Implications for Kidney Stone Disease.
Because MRL-Atp6v1b1vxt/vtx mice do not recapitulate the metabolic acidosis of dRTA patients, they provide a new genetic model for nonsyndromic deafness with enlarged vestibular aqueduct (EVA; OMIM #600791).
Title: Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.
Dot1l is a new epigenetic regulator of principal cells and intercalated cell differentiation and Atp6v1b1 is a new transcriptional target of Dot1l.
Title: Dot1l deficiency leads to increased intercalated cells and upregulation of V-ATPase B1 in mice.
Aldosterone increases V-ATPase-dependent proton secretion in clear cells in the caput epididymis via MR/NR3C2 and PKC activation.
Title: Circulating aldosterone induces the apical accumulation of the proton pumping V-ATPase and increases proton secretion in clear cells in the caput epididymis.
Data conclude that V-ATPase-mediated H(+) secretion in the olfactory epithelium is required for optimal olfactory function.
Title: Loss of the V-ATPase B1 subunit isoform expressed in non-neuronal cells of the mouse olfactory epithelium impairs olfactory function.
Provide comprehensive protein expression profiles of specialized V-ATPase-B1-expressing cells in the kidney and epididymis.
Title: Proteomic analysis of V-ATPase-rich cells harvested from the kidney and epididymis by fluorescence-activated cell sorting.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Spontaneous (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Atp6v1b1 (e-PCR), detects polymorphism
- UniSTS:516097

Atp6b1 (e-PCR), detects polymorphism
- UniSTS:141135

Atp6b1 (e-PCR), detects polymorphism
- UniSTS:141136

Atp6v1b1 (e-PCR), detects polymorphism
- UniSTS:527050

AW208839 (e-PCR)
- UniSTS:179404

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables proton transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables proton-transporting ATPase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info
enables proton-transporting ATPase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within ATP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adult behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chloride ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within olfactory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ossification	ISO Inferred from Sequence Orthology more info
involved_in ossification	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in pH reduction	IEA Inferred from Electronic Annotation more info
involved_in pH reduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within potassium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within prostaglandin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of pH	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of pH	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of pH	ISO Inferred from Sequence Orthology more info
involved_in regulation of pH	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within renal sodium excretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within renal sodium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal tubular secretion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within renal water homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info	PubMed
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle lumen acidification	EXP Inferred from Experiment more info	PubMed
involved_in synaptic vesicle lumen acidification	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle lumen acidification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vacuolar acidification	IBA Inferred from Biological aspect of Ancestor more info
involved_in vacuolar proton-transporting V-type ATPase complex assembly	ISO Inferred from Sequence Orthology more info
involved_in vacuolar proton-transporting V-type ATPase complex assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extrinsic component of synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase complex	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of vacuolar proton-transporting V-type ATPase, V1 domain	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase, V1 domain	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: V-type proton ATPase subunit B, kidney isoform

Names: ATPase, H+ transporting, V1 subunit B; ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa; ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B; V-ATPase subunit B 1; endomembrane proton pump 58 kDa subunit; vacuolar proton pump subunit B 1

NP_598918.1

EC 7.1.2.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.