atp6v1e1b ATPase H+ transporting V1 subunit E1b [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: atp6v1e1bprovided by ZNC
Official Full Name: ATPase H+ transporting V1 subunit E1bprovided by ZNC
Primary source: ZFIN:ZDB-GENE-020419-11
See related: Ensembl:ENSDARG00000030694 AllianceGenome:ZFIN:ZDB-GENE-020419-11
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: atp6e; fj35f08; atp6v1e1; chunp6932; wu:fj35f08
Summary: Contributes to proton transmembrane transporter activity. Acts upstream of or within several processes, including caudal fin development; fin regeneration; and notochord cell vacuolation. Predicted to be part of proton-transporting two-sector ATPase complex, catalytic domain. Is expressed in several structures, including digestive system; eye; gonad; heart; and unfertilized egg. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIC. Orthologous to several human genes including ATP6V1E1 (ATPase H+ transporting V1 subunit E1). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 4

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	4	NC_007115.7 (5240126..5247266, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	4	NC_007115.6 (5231556..5238696, complement)

Chromosome 4 - NC_007115.7 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
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?

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
Title: Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
contributes_to proton transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
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 caudal fin development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fin regeneration	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 notochord cell vacuolation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within 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 proton-transporting two-sector ATPase complex, catalytic domain	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: V-type proton ATPase subunit E 1

Names: ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD; ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E; ATPase, H+ transporting, lysosomal, V1 subunit E; ATPase, H+ transporting, lysosomal, V1 subunit E1b; etID60363.4

NP_775361.1

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_173254.1 → NP_775361.1 V-type proton ATPase subunit E 1

See identical proteins and their annotated locations for NP_775361.1

Status: PROVISIONAL

Source sequence(s)

AF506222

UniProtKB/TrEMBL

Q8JHH4

Related

ENSDARP00000050220.4, ENSDART00000050221.5

Conserved Domains (2) summary

COG1390
Location:9 → 218

NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]

pfam01991
Location:18 → 216

vATP-synt_E; ATP synthase (E/31 kDa) subunit