atp6v1h ATPase H+ transporting V1 subunit H [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: atp6v1hprovided by ZNC
Official Full Name: ATPase H+ transporting V1 subunit Hprovided by ZNC
Primary source: ZFIN:ZDB-GENE-021219-2
See related: Ensembl:ENSDARG00000006370 AllianceGenome:ZFIN:ZDB-GENE-021219-2
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: chunp6890
Summary: Predicted to enable proton-transporting ATPase activity, rotational mechanism. Involved in eye pigmentation and positive regulation of neural retina development. Acts upstream of or within several processes, including bone development; bone mineralization; and retina development in camera-type eye. Predicted to be part of vacuolar proton-transporting V-type ATPase, V1 domain. Is expressed in several structures, including digestive system; gonad; integument; nervous system; and trigeminal placode. Used to study osteoporosis. Orthologous to human ATP6V1H (ATPase H+ transporting V1 subunit H). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	2	NC_007113.7 (30786760..30846873)
105	previous assembly	GRCz10 (GCF_000002035.5)	2	NC_007113.6 (30803227..30863340)

Chromosome 2 - NC_007113.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

Differences between two isoforms using bioinformatic methods, as well as some in vitro and in vivo methods in mice and zebrafish; found that two isoforms of H subunit showed the tissue specific locations and the ratio of two subunits might have an important role to control osteoclast function and craniofacial development.
Title: Analysis of two transcript isoforms of vacuolar ATPase subunit H in mouse and zebrafish.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables proton-transporting ATPase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within bone development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neural retina development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of vacuolar proton-transporting V-type ATPase, V1 domain	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: V-type proton ATPase subunit H

Names: ATPase, H+ transporting, lysosomal V1 subunit H; un-named hi923; unm hi923

NP_001278637.1

EC 7.1.2.2

NP_775377.2

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_001291708.1 → NP_001278637.1 V-type proton ATPase subunit H isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).

Source sequence(s)

EH445185, EH460143, EH549298, EH552114, EH570419

UniProtKB/TrEMBL

A0A8M1P5K1, B0R0V8

Related

ENSDARP00000113453.1, ENSDART00000145681.2

Conserved Domains (1) summary

cd00256
Location:14 → 461

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
NM_173270.3 → NP_775377.2 V-type proton ATPase subunit H isoform 2

See identical proteins and their annotated locations for NP_775377.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame alternate exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.

Source sequence(s)

EH460143, EH549298, EH552114, EH570419

UniProtKB/TrEMBL

Q6IQG5, Q6PC35

Related

ENSDARP00000024886.6, ENSDART00000019029.8

Conserved Domains (1) summary

cd00256
Location:14 → 443

VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...