Version 5.4
Bos taurus Gene: ALDH18A1
Summary
InnateDB Gene IDBG-637965.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALDH18A1
Gene Name delta-1-pyrroline-5-carboxylate synthase
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000011832
Encoded Proteins
IDBP-690009
delta-1-pyrroline-5-carboxylate synthase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000059573:
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 26:16954147-16995264
Strand Reverse strand
Band
Transcripts
ENSBTAT00000015703 ENSBTAP00000015703
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 21 interaction(s) predicted by orthology.
Predicted by orthology
Total 21 [view]
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:0016491 oxidoreductase activity
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor
GO:0016740 transferase 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:0016310 phosphorylation
GO:0019240 citrulline biosynthetic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000059573
View Gene Order
ENSMUSG00000025007
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_188937
Metabolism pathway
REACT_232845
Metabolism of amino acids and derivatives pathway
REACT_239550
Amino acid synthesis and interconversion (transamination) pathway
KEGG
hsa00330
Arginine and proline metabolism pathway
mmu00330
Arginine and proline metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL Q2KJH7
UniProt Splice Variant
Entrez Gene 514759
UniGene Bt.73294
RefSeq NM_001046181 XM_005225537
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BC105337 DAAA02058881
GenPept AAI05338
RNA Seq Atlas 514759

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