InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALDH3A2

Summary

InnateDB Protein

IDBP-239275.6

Last Modified

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

Gene Symbol

ALDH3A2

Protein Name

aldehyde dehydrogenase 3 family, member A2

Synonyms

ALDH10; FALDH; SLS;

Species

Homo sapiens

Ensembl Protein

ENSP00000378942

InnateDB Gene

IDBG-34849 (ALDH3A2)

Protein Structure

UniProt Annotation

Function

Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid. {ECO:0000269PubMed:22633490}.

Subcellular Localization

Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side.

Disease Associations

Sjoegren-Larsson syndrome (SLS) [MIM:270200]: An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. {ECO:0000269PubMed:10577908, ECO:0000269PubMed:10792573, ECO:0000269PubMed:8528251, ECO:0000269PubMed:9254849, ECO:0000269PubMed:9829906}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.

Experimentally validated
Total	22 [view]
Protein-Protein	21 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003995	acyl-CoA dehydrogenase activity
GO:0004029	aldehyde dehydrogenase (NAD) activity
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity
GO:0016491	oxidoreductase activity
GO:0046577	long-chain-alcohol oxidase activity
GO:0050061	long-chain-aldehyde dehydrogenase activity
GO:0052814	medium-chain-aldehyde dehydrogenase activity

Biological Process

GO:0006081	cellular aldehyde metabolic process
GO:0006714	sesquiterpenoid metabolic process
GO:0007417	central nervous system development
GO:0007422	peripheral nervous system development
GO:0008152	metabolic process
GO:0008218	bioluminescence
GO:0008544	epidermis development
GO:0033306	phytol metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005777	peroxisome
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR008670 Acyl-CoA reductase, LuxC
IPR012394 Aldehyde dehydrogenase NAD(P)-dependent
IPR015590 Aldehyde dehydrogenase domain
IPR016161 Aldehyde/histidinol dehydrogenase

PFAM

PF05893
PF00171

PRINTS

PIRSF

PIRSF009414
PIRSF036492

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P51648