InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALDH18A1

Summary

InnateDB Protein

IDBP-83495.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ALDH18A1

Protein Name

aldehyde dehydrogenase 18 family, member A1

Synonyms

ARCL3A; GSAS; P5CS; PYCS;

Species

Homo sapiens

Ensembl Protein

ENSP00000360265

InnateDB Gene

IDBG-83491 (ALDH18A1)

Protein Structure

UniProt Annotation

Function

Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. {ECO:0000269PubMed:10037775, ECO:0000269PubMed:11092761}.

Subcellular Localization

Mitochondrion inner membrane.

Disease Associations

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:0000269PubMed:11092761, ECO:0000269PubMed:18478038}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.

Experimentally validated
Total	30 [view]
Protein-Protein	30 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004349	glutamate 5-kinase activity
GO:0004350	glutamate-5-semialdehyde dehydrogenase activity
GO:0005524	ATP binding
GO:0016491	oxidoreductase activity
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006536	glutamate metabolic process
GO:0006561	proline biosynthetic process
GO:0006592	ornithine biosynthetic process
GO:0008152	metabolic process
GO:0008652	cellular amino acid biosynthetic process
GO:0016310	phosphorylation
GO:0019240	citrulline biosynthetic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process
GO:0055129	L-proline biosynthetic process

Cellular Component

GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000965 Gamma-glutamyl phosphate reductase GPR
IPR001048 Aspartate/glutamate/uridylate kinase
IPR001057 Glutamate/acetylglutamate kinase
IPR005715 Glutamate 5-kinase/delta-1-pyrroline-5-carboxylate synthase
IPR005766 Delta l-pyrroline-5-carboxylate synthetase
IPR015590 Aldehyde dehydrogenase domain
IPR016161 Aldehyde/histidinol dehydrogenase

PFAM

PF00696
PF00171

PRINTS

PR00474

PIRSF

PIRSF036429

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt