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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

Corresponding disease	P5CSD P5CS deficiency SPG9 spastic paraparesis 9
Location	10q24.1      Physical location : 97.365.686 - 97.416.567
Synonym name	pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
	delta-1-pyrroline-5-carboxylate synthetase
Synonym symbol(s)	GSAS, P5CS, MGC117316, PYCS
EC.number	1.2.1.41, 2.7.2.11

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