InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALDH7A1

Summary

InnateDB Protein

IDBP-293280.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ALDH7A1

Protein Name

aldehyde dehydrogenase 7 family, member A1

Synonyms

ATQ1; EPD; PDE;

Species

Homo sapiens

Ensembl Protein

ENSP00000387123

InnateDB Gene

IDBG-39345 (ALDH7A1)

Protein Structure

UniProt Annotation

Function

Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism. {ECO:0000269PubMed:16491085, ECO:0000269PubMed:20207735}.

Subcellular Localization

Mitochondrion {ECO:0000269PubMed:20207735}. Nucleus {ECO:0000269PubMed:20207735}.Isoform 2: Cytoplasm, cytosol.

Disease Associations

Pyridoxine-dependent epilepsy (PDE) [MIM:266100]: Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. {ECO:0000269PubMed:16491085, ECO:0000269PubMed:17068770}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue. {ECO:0000269PubMed:8088832, ECO:0000269PubMed:9417906}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.

Experimentally validated
Total	28 [view]
Protein-Protein	28 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004029	aldehyde dehydrogenase (NAD) activity
GO:0004043	L-aminoadipate-semialdehyde dehydrogenase activity
GO:0005515	protein binding
GO:0008802	betaine-aldehyde dehydrogenase activity
GO:0016491	oxidoreductase activity

Biological Process

GO:0006081	cellular aldehyde metabolic process
GO:0006554	lysine catabolic process
GO:0007605	sensory perception of sound
GO:0008152	metabolic process
GO:0019285	glycine betaine biosynthetic process from choline
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process