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FLASH GENE

Symbol

ALDH1L1

contributors: mct/npt/pgu - updated : 06/11/2008

HGNC name	aldehyde dehydrogenase 1 family, member L1
HGNC id	3978

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3q21.2      Physical location : 125.822.407 - 125.899.485
Synonym name	formyltetrahydrofolate dehydrogenase
Synonym symbol(s)	FTHFD, 10-fTHF, DKFZp781N0997, FDH
EC.number	1.5.1.6

DNA

TYPE	functioning gene
STRUCTURE	77.08 kb     23 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 23 - 3125 98.7 902 - 2002 12065246 variant 2 - - 2874 55.4 505 - 1999 10204077 lacking alternate coding exons which causes a frameshift compared to variant 1 21 exons

EXPRESSION

Rna function	mRNA is highest in liver, kidney, and pancreas
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 liver       highly Nervous brain         Reproductive male system prostate       Urinary bladder       predominantly   kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

Text	cell-specifically expressed in PAX3-negative radial glia at the midline of the neural tube

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain (AAs 1–310) shares sequence homology and structural topology with other enzymes utilizing 10-fTHF as a substrate
	a acyl carrier domain
	C-terminal domain (AAs 400–902) originates from an aldehyde dehydrogenase-related gene

mono polymer

homomer , tetramer

HOMOLOGY

interspecies	homolog to Drosophila CG8665
	homolog to C.elegans F36H1.6
	homolog to rattus 10-FTHFDH

Homologene

FAMILY

aldehyde dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	catalyzing the conversion of 10-formyltetrahydrofolate, NADP and water to tetrahydrofolate, NADPH and carbon dioxide
	induces phosphorylation of TP53 at Ser6, which is a required step in the activation of apoptosis
	induces phosphorylation of MAPK8 and MAPK9
	folate enzyme with tumor suppressor-like properties that inhibits cell motility

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

organic acid

signaling

10-formyltetrahydrofolate catabolism

a component

tetramer of four identical 902-AAs subunits, and each is a product of the natural fusion of three unrelated genes corresponding to three distinct functional domain

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NADP/NADPH

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in accumulation of formate and subsequent methanol poisoning tumoral         in down-regulated in several types of cancer on both the mRNA and the protein level

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS