ATP6V1B1 ATPase H+ transporting V1 subunit B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP6V1B1provided by HGNC
Official Full Name: ATPase H+ transporting V1 subunit B1provided by HGNC
Primary source: HGNC:HGNC:853
See related: Ensembl:ENSG00000116039 MIM:192132; AllianceGenome:HGNC:853
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: VATB; VMA2; VPP3; DRTA2; RTA1B; ATP6B1
Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]
Expression: Biased expression in kidney (RPKM 35.1), salivary gland (RPKM 28.3) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (70935900..70965431)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (70946950..70976433)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (71163030..71192561)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
Title: Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.
Title: Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.
Our study indicates the importance contribution of ATP6V1B1 gene mutations to the pathogenesis of the dRTA in the Algerian population and will contribute to introducing principles to predict the characteristics of the dRTA in patients.
Title: ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis.
Serum autoantibodies to subunit B1 and subunit B2 of v-H(+) -ATPase in renal tubular acidosis patients may be responsible for impaired urinary acidification.
Title: Presence of serum autoantibodies to vacuolar H(+) -ATPase in patients with renal tubular acidosis.
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.
In patient one, Two novel heterozygous missense mutations of the ATP6V1B1 gene (c.409C>T, p.Pro137Ser; c.904C>T, p.Arg302Trp) were identified. In patient III 2 novel heterozygous duplications (c.1504dupT, p.Tyr502Leufs*22; c.2351dupT, p.Phe785Ilefs*28) were found.
Title: Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.
Both B1 and B2 subunits of the V-ATPase are detectable in human urinary exosomes, and acid and alkali loading or distal renal tubular acidosis cause changes in the B1 but not B2 subunit abundance in urinary exosomes.
Title: Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis.
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.
The p. P137S and p. R302W mutations in ATP6V1B1 and p. S473F and p. R807X in ATP6V0A4, were novel disease-causing mutations of distal renal tubular acidosis.
Title: Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.
Distal renal acidosis patient carries two novel mutations, one in each of the genes ATP6V0A4 and ATP6V1B1.
Title: Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Renal tubular acidosis with progressive nerve deafness MedGen: C0403554 OMIM: 267300 GeneReviews: Hereditary Distal Renal Tubular Acidosis	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Genome-wide shRNA screening identifies ATP6V1B1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_5799-5800:991939724:4 (e-PCR)
- UniSTS:231171

MARC_5799-5800:997299303:1 (e-PCR)
- UniSTS:231171

SHGC-14337 (e-PCR)
- UniSTS:15632

STS-AA019900 (e-PCR)
- UniSTS:46021

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables proton transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables proton-transporting ATPase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in ATP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in adult behavior	IEA Inferred from Electronic Annotation more info
involved_in calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chloride ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in olfactory behavior	IEA Inferred from Electronic Annotation more info
involved_in ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pH reduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in prostaglandin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in regulation of macroautophagy	NAS Non-traceable Author Statement 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
involved_in renal sodium excretion	IEA Inferred from Electronic Annotation more info
involved_in renal sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in renal tubular secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal water homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle lumen acidification	IEA Inferred from Electronic Annotation more info
involved_in vacuolar acidification	IBA Inferred from Biological aspect of Ancestor more info
involved_in vacuolar proton-transporting V-type ATPase complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extrinsic component of synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in lateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in microvillus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of vacuolar proton-transporting V-type ATPase complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of vacuolar proton-transporting V-type ATPase, V1 domain	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

Names: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1; H(+)-transporting two-sector ATPase, 58kD subunit; H+-ATPase beta 1 subunit; V-ATPase B1 subunit; V-ATPase subunit B 1; endomembrane proton pump 58 kDa subunit; vacuolar proton pump 3; vacuolar proton pump subunit B 1; vacuolar proton pump, subunit 3

NP_001683.2

EC 7.1.2.2

XP_011531209.1

EC 7.1.2.2

XP_054198537.1

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.

Genomic

NG_008016.1 RefSeqGene

Range

5033..34564

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1176

mRNA and Protein(s)

NM_001692.4 → NP_001683.2 V-type proton ATPase subunit B, kidney isoform

See identical proteins and their annotated locations for NP_001683.2

Status: REVIEWED

Source sequence(s)

AI769776, AK313194, BC063411

Consensus CDS

CCDS1912.1

UniProtKB/Swiss-Prot

P15313, Q53FY0, Q6P4H6

UniProtKB/TrEMBL

C9JL73

Related

ENSP00000234396.4, ENST00000234396.10

Conserved Domains (1) summary

TIGR01040
Location:40 → 503

V-ATPase_V1_B; V-type (H+)-ATPase V1, B subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

70935900..70965431

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532907.3 → XP_011531209.1 V-type proton ATPase subunit B, kidney isoform isoform X1

UniProtKB/TrEMBL

B4DWH7

Conserved Domains (4) summary

cd01135
Location:152 → 435

V_A-ATPase_B; V/A-type ATP synthase (non-catalytic) subunit B. These ATPases couple ATP hydrolysis to the build up of a H+ gradient, but V-type ATPases do not catalyze the reverse reaction. The Vacuolar (V-type) ATPase is found in the membranes of vacuoles, the golgi ...

TIGR01040
Location:99 → 543

V-ATPase_V1_B; V-type (H+)-ATPase V1, B subunit

pfam00306
Location:450 → 543

ATP-synt_ab_C; ATP synthase alpha/beta chain, C terminal domain

pfam02874
Location:98 → 150

ATP-synt_ab_N; ATP synthase alpha/beta family, beta-barrel domain