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MT000526

UniProt Annotations

Entry Information

Gene Name	aldehyde dehydrogenase 18 family, member A1
Protein Entry	P5CS_HUMAN
UniProt ID	P54886
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P54886-1; Sequence=Displayed; Name=Short; IsoId=P54886-2; Sequence=VSP_005215;
Catalytic Activity	ATP + L-glutamate = ADP + L-glutamate 5- phosphate.
Catalytic Activity	L-glutamate 5-semialdehyde + phosphate + NADP(+) = L-glutamyl 5-phosphate + NADPH.
Disease	Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]: A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities. {ECO:0000269\|PubMed:11092761, ECO:0000269\|PubMed:18478038}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Isoform Short is inhibited by L-ornithine with a Ki of approximately 0.25 mm. Isoform Long is insensitive to ornithine inhibition. This is due to the two amino acid insert which abolishes feedback inhibition of P5CS activity by L- ornithine. {ECO:0000269\|PubMed:10037775}.
Function	Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. {ECO:0000269\|PubMed:10037775, ECO:0000269\|PubMed:11092761}.
Pathway	Amino-acid biosynthesis; L-proline biosynthesis; L- glutamate 5-semialdehyde from L-glutamate: step 1/2.
Pathway	Amino-acid biosynthesis; L-proline biosynthesis; L- glutamate 5-semialdehyde from L-glutamate: step 2/2.
Sequence Caution	Sequence=BAH12086.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAH13064.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	In the C-terminal section; belongs to the gamma- glutamyl phosphate reductase family. {ECO:0000305}.
Similarity	In the N-terminal section; belongs to the glutamate 5- kinase family. {ECO:0000305}.
Subcellular Location	Mitochondrion inner membrane.