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FLASH GENE

Symbol

ALDH18A1

contributors: mct/np - updated : 13-10-2015

HGNC name	aldehyde dehydrogenase 18 family, member A1
HGNC id	9722

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	50.88 kb     18 Exon(s)

regulatory sequence	Promoter
	Binding site
text structure	there are two TP53-binding consensus sequences in the promoter region and in the intron 1 of theALDH18A1 gene

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002860 18 splicing 3470 87.2 795 multiple tissues 2008 1840154 variant 1 P5CSL being insensitive to ornithine inhibition NM_001017423 18 splicing 3464 87 793 gut, small intestine 2008 1840154 variant 2 P5Cs lacking two amino acids using an alternate in-frame splice site compared to variant 1 being inhibited by l-ornithine with a Ki of approximately 0.25 mm

EXPRESSION

Type	ubiquitous

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 intestine small intestine         intestine large intestine colon   moderately   pancreas exocrine       moderately Endocrine thyroid       moderately Hearing/Equilibrium ear       predominantly Reproductive female system uterus cervix   moderately Respiratory respiratory tract larynx     moderately   respiratory tract trachea     moderately Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	embryonic tissue

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N-terminal mitochondrial targeting signal (MTS)

HOMOLOGY

interspecies	ortholog to rattus Pycs
	ortholog to murine Aldh18a1

Homologene

FAMILY	aldehyde dehydrogenase family
	glutamate 5-kinase family (in the N-terminal section)
	gamma-glutamyl phosphate reductase family (in the C-terminal section)

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
text	targets to mitochondria through a N-terminal mitochondrial targeting signal (MTS)

basic FUNCTION	catalyzes the ATP- and NADPH-dependent conversion of L-glutamate to glutamic gamma-semialdehyde, which is the metabolic precursor for proline biosynthesis
	bifunctional enzyme catalyzing the reduction of glutamate to delta 1-pyrroline 5-carboxylate
	acting as a gamma-glutamyl kinase
	acting as a gamma-glutamyl phosphate reductase
	enzyme involved in the de novo synthesis of proline from pyrroline-5-carboxylate (P5C) residing in mitochondria

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

	first and second step of proline biosynthesis
	arginine biosynthetic pathway (PYCs)

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP
	NADPH

protein

cell & other

REGULATION

inhibited by

L-ornithine P5Cs

ASSOCIATED DISORDERS

corresponding disease(s)

P5CSD , SPG9

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS