Version 5.4
Homo sapiens Gene: AASS
Summary
InnateDB Gene IDBG-38444.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AASS
Gene Name aminoadipate-semialdehyde synthase
Synonyms LKR/SDH; LKRSDH; LORSDH
Species Homo sapiens
Ensembl Gene ENSG00000008311
Encoded Proteins
IDBP-38446
aminoadipate-semialdehyde synthase
IDBP-243734
aminoadipate-semialdehyde synthase
IDBP-385862
aminoadipate-semialdehyde synthase
IDBP-385863
aminoadipate-semialdehyde synthase
IDBP-385867
aminoadipate-semialdehyde synthase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:122075647-122144280
Strand Reverse strand
Band q31.32
Transcripts
ENST00000358954 ENSP00000351834
ENST00000393376 ENSP00000377040
ENST00000417368 ENSP00000403768
ENST00000431170 ENSP00000414001
ENST00000426162 ENSP00000394180
ENST00000460376
ENST00000473553
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 8 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016491 oxidoreductase activity
GO:0047130 saccharopine dehydrogenase (NADP+, L-lysine-forming) activity
GO:0047131 saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity
Biological Process
GO:0006554 lysine catabolic process
GO:0019477 L-lysine catabolic process
GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0051262 protein tetramerization
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029695
View Gene Order
ENSBTAG00000012128
Not yet available
Pathways
NETPATH
REACTOME
REACT_1298
Lysine catabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00310
Lysine degradation pathway
INOH
INOH website
Lysine degradation pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.156738
RefSeq NM_005763
HUGO
OMIM
CCDS CCDS5783
HPRD 05489
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