atp6v1aa ATPase H+ transporting V1 subunit Aa [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: atp6v1aaprovided by ZNC
Official Full Name: ATPase H+ transporting V1 subunit Aaprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1143
See related: Ensembl:ENSDARG00000034534 AllianceGenome:ZFIN:ZDB-GENE-040426-1143
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: HA; ATP6V1A; atp6v1al; zgc:63516
Summary: Enables proton transmembrane transporter activity. Acts upstream of or within apical protein localization; intracellular monoatomic cation homeostasis; and proton transmembrane transport. Predicted to be located in apical plasma membrane. Predicted to be part of proton-transporting V-type ATPase, V1 domain. Is expressed in several structures, including extension; hatching gland; integument; ionocyte progenitor cell; and sensory system. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IID and developmental and epileptic encephalopathy 93. Orthologous to human ATP6V1A (ATPase H+ transporting V1 subunit A). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 5

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (24245682..24259992)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (23741882..23756192)

Chromosome 5 - NC_007116.7 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?

Data suggest that edn1/ednraa (endothelin-1/endothelin-1 receptor type A) signaling is involved in acid-base regulation and transepithelial proton secretion via vacuolar proton-translocating ATPase in zebrafish embryonic skin.
Title: Endothelin-1 regulates H⁺-ATPase-dependent transepithelial H⁺ secretion in zebrafish.
To gain understanding of the role of Slc45a2 and its possible interactions with other proteins involved in melanization, the role of the V-ATPase as a melanosomal acidifier, was analyzed.
Title: Slc45a2 and V-ATPase are regulators of melanosomal pH homeostasis in zebrafish, providing a mechanism for human pigment evolution and disease.

Submit: New GeneRIF Correction

General gene information

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Markers

fb36g07.x1 (e-PCR)
- UniSTS:190493

fi81d12.x1 (e-PCR)
- UniSTS:198063

fb36g07.x1 (e-PCR)
- UniSTS:187119

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables proton transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables proton-transporting ATP synthase activity, rotational mechanism	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 apical protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular sodium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proton transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proton transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of proton-transporting V-type ATPase, V1 domain	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ATPase H+ transporting V1 subunit Aa

Names: ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A, like; ATPase, H+ transporting, lysosomal V1 subunit A, like; ATPase, H+ transporting, lysosomal, V1 subunit Aa

NP_957429.1

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_201135.2 → NP_957429.1 ATPase H+ transporting V1 subunit Aa

See identical proteins and their annotated locations for NP_957429.1

Status: PROVISIONAL

Source sequence(s)

BC055130

UniProtKB/TrEMBL

Q7SY46

Related

ENSDARP00000049002.3, ENSDART00000049003.4

Conserved Domains (4) summary

cd01134
Location:85 → 457

V_A-ATPase_A; V/A-type ATP synthase catalytic subunit A. 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 ...

TIGR01042
Location:17 → 609

V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit

pfam00306
Location:475 → 617

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

pfam02874
Location:21 → 83

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