Version 5.4
Homo sapiens Gene: ALDH18A1
Summary
InnateDB Gene IDBG-83491.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALDH18A1
Gene Name aldehyde dehydrogenase 18 family, member A1
Synonyms ARCL3A; GSAS; P5CS; PYCS
Species Homo sapiens
Ensembl Gene ENSG00000059573
Encoded Proteins
IDBP-83493
aldehyde dehydrogenase 18 family, member A1
IDBP-83495
aldehyde dehydrogenase 18 family, member A1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:95605929-95656706
Strand Reverse strand
Band q24.1
Transcripts
ENST00000371224 ENSP00000360268
ENST00000371221 ENSP00000360265
ENST00000485428
ENST00000489386
ENST00000483788
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025007
View Gene Order
ENSBTAG00000011832
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa00330
Arginine and proline metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.500645
RefSeq NM_001017423 NM_002860 XM_006717933
HUGO
OMIM
CCDS CCDS31257 CCDS7443
HPRD 00696
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca