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GENE INFORMATION
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The gene information section lists the gene name (HUGO Gene Nomenclature Committee ( HGNC) name if available), any approved gene synonyms, Ensembl gene description, and the Entrez gene summary from the National Center for Biotechnology Information.
The chromosomal and cytoband location of the gene according to Ensembl is reported together with the Ensembl gene identifier and Ensembl database version.
The Entrez gene identifier for the gene is also given. If any of the protein products of
the gene is linked to a UniProt KB/SWISS-PROT entry, links to the UniProt and the
neXtProt databases for these proteins are displayed.
There is also a link to the Antibodypedia portal where validation data for antibodies produced by other suppliers
against this gene can be found.
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Gene name |
ATP6V1B1 (HGNC Symbol) |
Synonyms |
ATP6B1, RTA1B, VATB, Vma2, VPP3 |
Description |
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (HGNC Symbol) |
Entrez gene 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] |
Chromosome |
2 |
Cytoband |
p13.3 |
Chromosome location (bp) |
70935882 - 70965406 |
Protein evidence |
Evidence at protein level (all genes) |
Ensembl |
ENSG00000116039 (version 78.38) |
Entrez gene |
525 |
UniProt |
P15313 (UniProt - Evidence at protein level) |
neXtProt |
NX_P15313 |
Antibodypedia |
ATP6V1B1 antibodies |
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PROTEIN VIEW
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The protein view displays protein features. The tabs at the top of the protein view section can be used to switch between the different splice variants encoded by this gene. The mouse over function displays additional data for the features in the protein view.
At the top of the protein view, the maximum percent sequence identity of the protein to all other proteins from other human genes is shown, using a sliding window of 10 aa residues
(HsID 10) or 50 aa residues (HsID 50) ( read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0, and
Phobius
(turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green.
Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed
( read more), and at the bottom of the protein view is the protein scale.
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PROTEIN INFORMATION
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The protein information section displays the alternative protein-coding transcripts (splice variants) encoded by this gene, according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant.
The data in the UniProt column can be expanded to show links to all matching
UniProt identifiers for this protein.
The protein classes to which this protein has been assigned are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors
SPOCTOPUS,
SignalP 4.0, and
Phobius) and the number of predicted transmembrane region(s) (according to
MDM) are also reported.
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Splice variant |
Ensembl |
UniProt |
Protein class |
Gene ontology |
Length (aa) |
Molecular mass (kDa) |
Signal peptide (predicted) |
Transmembrane regions (predicted)
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ATP6V1B1-001 |
ENSP00000234396
ENST00000234396
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P15313 Show all »
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P15313 [Direct mapping]V-type proton ATPase subunit B, kidney isoform B4DWH7 [Target identity:95%; Query identity:100%]cDNA FLJ57632, highly similar to Vacuolar ATP synthase subunit B, kidney isoform {ECO:0000313|EMBL:BAG63039.1} Q71UA2 [Target identity:83%; Query identity:100%]H+-ATPase beta 1 subunit {ECO:0000313|EMBL:AAD11943.1} C9JZ02 [Target identity:23%; Query identity:100%]V-type proton ATPase subunit B, kidney isoform {ECO:0000313|Ensembl:ENSP00000407840} C9JTN0 [Target identity:14%; Query identity:100%]V-type proton ATPase subunit B, kidney isoform {ECO:0000313|Ensembl:ENSP00000387599}
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Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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Show »
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513 |
56.8 |
No |
0 |
ATP6V1B1-005 |
ENSP00000388353
ENST00000412314
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C9JL73 Show all »
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C9JL73 [Target identity:100%; Query identity:100%]V-type proton ATPase subunit B, kidney isoform {ECO:0000313|Ensembl:ENSP00000388353} C9JZ02 [Target identity:23%; Query identity:100%]V-type proton ATPase subunit B, kidney isoform {ECO:0000313|Ensembl:ENSP00000407840} C9JTN0 [Target identity:14%; Query identity:100%]V-type proton ATPase subunit B, kidney isoform {ECO:0000313|Ensembl:ENSP00000387599}
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Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005524 [ATP binding] GO:0015991 [ATP hydrolysis coupled proton transport] GO:0015992 [proton transport] GO:0016820 [hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances] GO:0033178 [proton-transporting two-sector ATPase complex, catalytic domain] GO:0033180 [proton-transporting V-type ATPase, V1 domain] GO:0046034 [ATP metabolic process]
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496 |
55.1 |
No |
0 |
ATP6V1B1-006 |
ENSP00000387599
ENST00000432098
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C9JTN0 Show all »
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C9JTN0 [Target identity:100%; Query identity:100%]V-type proton ATPase subunit B, kidney isoform {ECO:0000313|Ensembl:ENSP00000387599}
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Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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74 |
8 |
No |
0 |
ATP6V1B1-007 |
ENSP00000408361
ENST00000454446
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C9JNS9 Show all »
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C9JNS9 [Target identity:100%; Query identity:100%]V-type proton ATPase subunit B, kidney isoform {ECO:0000313|Ensembl:ENSP00000408361} C9JTN0 [Target identity:29%; Query identity:100%]V-type proton ATPase subunit B, kidney isoform {ECO:0000313|Ensembl:ENSP00000387599}
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Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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Show »
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249 |
26.7 |
No |
0 |
ATP6V1B1-010 |
ENSP00000407840
ENST00000433895
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C9JZ02 Show all »
« Hide
C9JZ02 [Target identity:100%; Query identity:100%]V-type proton ATPase subunit B, kidney isoform {ECO:0000313|Ensembl:ENSP00000407840}
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Show »
« Hide
Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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Show »
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GO:0015991 [ATP hydrolysis coupled proton transport] GO:0016820 [hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances] GO:0033178 [proton-transporting two-sector ATPase complex, catalytic domain]
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118 |
13.4 |
No |
0 |
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