InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALDH1A3

Summary

InnateDB Protein

IDBP-32180.6

Last Modified

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

Gene Symbol

ALDH1A3

Protein Name

aldehyde dehydrogenase 1 family, member A3

Synonyms

ALDH1A6; ALDH6; MCOP8; RALDH3;

Species

Homo sapiens

Ensembl Protein

ENSP00000332256

InnateDB Gene

IDBG-32178 (ALDH1A3)

Protein Structure

UniProt Annotation

Function

Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm {ECO:0000250}.

Disease Associations

Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269PubMed:23312594, ECO:0000269PubMed:23591992, ECO:0000269PubMed:23646827}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004029	aldehyde dehydrogenase (NAD) activity
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity
GO:0016491	oxidoreductase activity
GO:0042803	protein homodimerization activity
GO:0070324	thyroid hormone binding
GO:0070403	NAD+ binding

Biological Process

GO:0002072	optic cup morphogenesis involved in camera-type eye development
GO:0002138	retinoic acid biosynthetic process
GO:0007626	locomotory behavior
GO:0008152	metabolic process
GO:0021768	nucleus accumbens development
GO:0031076	embryonic camera-type eye development
GO:0042472	inner ear morphogenesis
GO:0042572	retinol metabolic process
GO:0042573	retinoic acid metabolic process
GO:0042574	retinal metabolic process
GO:0043065	positive regulation of apoptotic process
GO:0048048	embryonic eye morphogenesis
GO:0050885	neuromuscular process controlling balance
GO:0055114	oxidation-reduction process
GO:0060013	righting reflex
GO:0060166	olfactory pit development
GO:0060324	face development