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FLASH GENE

Symbol

ALDH1A1

contributors: mct/npt - updated : 29-11-2023

HGNC name	aldehyde dehydrogenase 1 family, member A1
HGNC id	402

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000689 13 - 2116 NP_000680 54.8 501 - 2002 11827465

EXPRESSION

Type

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 liver       highly Homo sapiens Reproductive female system breast       Homo sapiens   female system ovary       Homo sapiens   male system testis       Homo sapiens Respiratory lung         Homo sapiens Visual eye lens         eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte Digestive hepatocyte Homo sapiens Reproductive Sertoli cell Homo sapiens

cell lineage	in adult stem cells isolated from bone marrow, brain, breast and possibly other tissues
cell lines
fluid/secretion

at STAGE

physiological period

embryo

Text	the dorsal retina in development
	highly expressed in embryonal tissue

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains

mono polymer

homomer , tetramer

HOMOLOGY

intraspecies	paralog to ALDH1A3
	paralog to ALDH1A2
	homolog to ALDH1B1

Homologene

FAMILY

aldehyde dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	oxidating retinal and a variety of aliphatic and aromatic aldehydes
	catalyzing retinoic acid synthesis in dorsal retina
	plays a critical role in protection against oxidative stress-induced cytotoxicity in lens epithelial cells
	important for multiple biological activities including drug resistance, cell differentiation, and oxidative stress response
	function of ALDH1A1 confers the "stemness" properties to normal and cancer stem cells
	ALDH1A1 regulates melanogenesis by catalysing the conversion of 9-cis retinal to 9-cis retinoic acid.
	is a multifunctional enzyme with dehydrogenase, esterase, and anti-oxidant activities
	is also a major regulator of retinoic acid (RA) signaling, which is critical for normal brain homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

drug

signaling

detoxication of anticancer drugs

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	free retinal
	NAD+

protein	ALDH1A1 is a critical meditator of TAZ-induced tumorigenic and cancer stem cells (CSCs) phenotypes in lung cancer
	neural retina-specific ALDH1A1 controls dorsal choroidal vascular development via SOX9 expression in retinal pigment epithelial cells
	DDB2, functioning as a transcription repressor, can abrogate ovarian Cancer stem cells (CSCs) properties by downregulating ALDH1A1 expression
	binding androgen receptor, retinal binding proteins RBP1, RBP2
	is both physiological and pathological target of CDK5
	PRMT3 inhibits the enzymatic activity of ALDH1A1 and negatively regulates the expression of retinoic acid responsive genes in a methyltransferase activity independent manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in non small cell lung cancer tumoral     --over   in acute myeloid leukemia patients of the poor prognosis risk group

Susceptibility

to development of alcohol and other substance use disorders

Variant & Polymorphism other	ALDH1A1*2 may be associated with protection from the development of alcohol and other substance use disorders

Candidate gene	activation of ALDH1A1, which efficiently catalyzes the detoxification of lipid-derived toxic aldehydes, and/or prevention of its oxidative modification may be novel therapeutic interventions against oxidative stress-induced lens pathologies
	could be a prostate cancer stem cells-related marker (measuring its expression might provide a potential approach to study tumorigenesis of prostate cancer and predict outcome of the disease)(Li 2010)
Marker
Therapy target

ANIMAL & CELL MODELS

	global elimination of Aldh1a1 and Aldh1a2 genes in mice blocks spermatogenesis but does not appear to affect viability
	Aldh1a1-/- mice showed choroidal hypoplasia with insufficient vascularization in the dorsal region