aldh7a1 aldehyde dehydrogenase 7 family, member A1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: aldh7a1provided by ZNC
Official Full Name: aldehyde dehydrogenase 7 family, member A1provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-6129
See related: Ensembl:ENSDARG00000018426 AllianceGenome:ZFIN:ZDB-GENE-030131-6129
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: ATQ; wu:fi34d12; wu:fi35e06
Summary: Enables alpha-aminoadipate acetyltransferase activity. Acts upstream of or within camera-type eye development; cartilage development; and pectoral fin development. Is expressed in several structures, including alar plate midbrain region; fin bud; musculature system; nervous system; and pharyngeal arch. Used to study epilepsy and pyridoxine-dependent epilepsy. Human ortholog(s) of this gene implicated in pyridoxine-dependent epilepsy. Orthologous to human ALDH7A1 (aldehyde dehydrogenase 7 family member A1). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 10

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	10	NC_007121.7 (16006909..16027990, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	10	NC_007121.6 (16048790..16069871, complement)

Chromosome 10 - NC_007121.7 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?

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
Title: Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
By using mass spectrometry techniques, we further explored the metabolic effect of aldh7a1 knockout. Impaired lysine degradation with accumulation of PDE biomarkers, B6 deficiency, and low gamma-aminobutyric acid levels were observed in the aldh7a1(-/-) larvae, which may play a significant role in the seizure phenotype and PDE pathogenesis.
Title: Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables aldehyde dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables alpha-aminoadipate acetyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pectoral fin development	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: alpha-aminoadipic semialdehyde dehydrogenase

NP_997889.1

EC 1.2.1.31

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_212724.1 → NP_997889.1 alpha-aminoadipic semialdehyde dehydrogenase

See identical proteins and their annotated locations for NP_997889.1

Status: PROVISIONAL

Source sequence(s)

BC044367

UniProtKB/TrEMBL

Q803R9

Related

ENSDARP00000108190.2, ENSDART00000122540.3

Conserved Domains (1) summary

cd07130
Location:25 → 499

ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B