InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AASS

Summary

InnateDB Protein

IDBP-243734.6

Last Modified

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

Gene Symbol

AASS

Protein Name

aminoadipate-semialdehyde synthase

Synonyms

LKR/SDH; LKRSDH; LORSDH;

Species

Homo sapiens

Ensembl Protein

ENSP00000377040

InnateDB Gene

IDBG-38444 (AASS)

Protein Structure

UniProt Annotation

Function

Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.

Subcellular Localization

Mitochondrion {ECO:0000250}.

Disease Associations

Hyperlysinemia, 1 (HYPLYS1) [MIM:238700]: An autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant. {ECO:0000269PubMed:10775527}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in all 16 tissues examined with highest expression in the liver.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR005097 Saccharopine dehydrogenase / Homospermidine synthase
IPR007698 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domain
IPR007886 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminal

PFAM

PF03435
PF01262
PF05222

PRINTS

PIRSF

SMART

SM01002
SM01003

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UDR5