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FLASH GENE

Symbol

ALDH1A3

contributors: mct - updated : 25-02-2011

HGNC name	aldehyde dehydrogenase 1 family, member A3
HGNC id	409

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	36.82 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (CAAT box) (TATA box)
	Binding site   transcription factor
text structure	putative TATA and CCAAT boxes
	Sp1 binding site

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000693 13 - 3510 NP_000684 56 512 - 2010 20709019 ALDH1A3-001 ALDH1A3-201 10 splicing - - - - 2010 20709019 lacked exons 4 through 6 ALDH1A3-203 11 splicing - - - - 2010 20709019 lacked exon 5 and part of exon 6

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth           salivary gland       highly Homo sapiens   stomach       highly Homo sapiens Urinary kidney       highly Homo sapiens Visual eye lens     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial barrier lining retinal pigment epithelium (RPE)     Epithelial secretory glandular

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Homo sapiens Skin/Tegument keratinocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to murine Aldh1a3
	ortholog to Drosophila CG3752
	ortholog to C.elegans K04F1.15

intraspecies	paralog to ALDH1A1
	paralog to ALDH1A2

Homologene

FAMILY

aldehyde dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	detoxication of aldehydes generated by alcohol metabolism and lipid peroxidation
	playing a role in the second step in ethanol utilization
	its transcriptional activation is involved in regulation of the retinoic acid metabolism in the epidermis
	required for the complete invagination of the ventral optic cup and closure of the choroid fissure
	decreases potentially insulin secretion from pancreatic beta-cells, whereas it increases glucagon secretion from pancreatic alpha-cells
	key enzyme in the formation of a retinoic acid gradient along the dorso-ventral axis during early eye development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

alcohol , lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NAD

protein

cell & other

REGULATION

activated by

all-trans-retinoic acid in primary keratinocytes

ASSOCIATED DISORDERS

corresponding disease(s)

MCOP8

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in non small cell lung cancer (Moreb 2008) constitutional     --over   deregulates the balanced mechanisms of insulin and glucagon secretion in the pancreatic islets and may induce beta-cell dysfunction leading to the development of type 2 diabetes constitutional       loss of function causes anophthalmia and aberrant eye development

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	novel cancer stem cells marker with potential clinical prognostic applicability (clear correlation between cancer stem cells prevalence and the development of metastatic breast cancer)
Therapy target

ANIMAL & CELL MODELS

Aldh1a3-/- mutant mice embryos begin the process of optic cup formation, but they exhibit ventral retina shortening associated with lens rotation and persistence of primary vitreous