atp6v1b2 ATPase H+ transporting V1 subunit B2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: atp6v1b2provided by ZNC
Official Full Name: ATPase H+ transporting V1 subunit B2provided by ZNC
Primary source: ZFIN:ZDB-GENE-030711-4
See related: Ensembl:ENSDARG00000043465 AllianceGenome:ZFIN:ZDB-GENE-030711-4
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: vatB2; fj51e01; atp6v1bb; wu:fj51e01; zgc:109771
Summary: Predicted to enable ATP binding activity. Predicted to act upstream of or within ATP metabolic process and proton transmembrane transport. Predicted to be part of proton-transporting V-type ATPase, V1 domain. Human ortholog(s) of this gene implicated in autosomal dominant congenital deafness with onychodystrophy. Orthologous to human ATP6V1B2 (ATPase H+ transporting V1 subunit B2). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 10

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	10	NC_007121.7 (19554604..19566475)
105	previous assembly	GRCz10 (GCF_000002035.5)	10	NC_007121.6 (19597170..19609096)

Chromosome 10 - NC_007121.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

atp6v1b2 knockdown zebrafish showed developmental defects in multiple organs and systems. However, Atp6v1b2 c.1516C>T knockin mice displayed obvious cognitive defects but normal hearing and cochlear morphology. Impaired hippocampal CA1 region and weaker interaction between the V1E and B2 subunits in Atp6v1b2(Arg506X//Arg506X) mice were observed
Title: A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.
vatB1 and vatB2 are differentially expressed in embryos.
Title: Isoforms vatB1 and vatB2 of the vacuolar type ATPase subunit B are differentially expressed in embryos of the zebrafish (Danio rerio).

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in vacuolar acidification	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in melanosome	IEA Inferred from Electronic Annotation more info
part_of proton-transporting V-type ATPase, V1 domain	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2; ATPase, H+ transporting, lysosomal, V1 subunit B, member b; ATPase, H+ transporting, lysosomal, V1 subunit B2

NP_878299.1

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.

mRNA and Protein(s)

NM_182879.2 → NP_878299.1 V-type proton ATPase subunit B, brain isoform

See identical proteins and their annotated locations for NP_878299.1

Status: PROVISIONAL

Source sequence(s)

AF472615

UniProtKB/TrEMBL

Q8QHA6

Related

ENSDARP00000063805.5, ENSDART00000063806.7

Conserved Domains (4) summary

cd01135
Location:117 → 400

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:45 → 507

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

pfam00306
Location:416 → 502

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

pfam02874
Location:49 → 115

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