• Gene id: 10157

Gene Summary

• Gene Symbol: AASS   Gene   UCSC   Ensembl
• Aliases: LKR/SDH, LKRSDH, LORSDH
• Gene name: aminoadipate-semialdehyde synthase
• Alternate names: alpha-aminoadipic semialdehyde synthase, mitochondrial, alpha-aminoadipate semialdehyde synthase, aminoadipic semialdehyde synthase, lysine-2-oxoglutarate reductase, lysine-ketoglutarate reductase /saccharopine dehydrogenase,
• Gene location: 7q31.32 (63368870: 63410877)     Exons: 10     NC_000011.10
• Gene summary(Entrez): 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 activit
• OMIM: 605113

Protein Summary

• Protein general information: Q9UDR5  
  • Name: Alpha aminoadipic semialdehyde synthase, mitochondrial (LKR/SDH) [Includes: Lysine ketoglutarate reductase (LKR) (LOR) (EC 1.5.1.8); Saccharopine dehydrogenase (SDH) (EC 1.5.1.9)]
  • Length: 926  
  • Mass: 102132
  • Tissue specificity: Expressed in all 16 tissues examined with highest expression in the liver.
• Sequence:

  MLQVHRTGLGRLGVSLSKGLHHKAVLAVRREDVNAWERRAPLAPKHIKGITNLGYKVLIQPSNRRAIHDKDYVKA
  GGILQEDISEACLILGVKRPPEEKLMSRKTYAFFSHTIKAQEANMGLLDEILKQEIRLIDYEKMVDHRGVRVVAF
  GQWAGVAGMINILHGMGLRLLALGHHTPFMHIGMAHNYRNSSQAVQAVRDAGYEISLGLMPKSIGPLTFVFTGTG
  NVSKGAQAIFNELPCEYVEPHELKEVSQTGDLRKVYGTVLSRHHHLVRKTDAVYDPAEYDKHPERYISRFNTDIA
  PYTTCLINGIYWEQNTPRLLTRQDAQSLLAPGKFSPAGVEGCPALPHKLVAICDISADTGGSIEFMTECTTIEHP
  FCMYDADQHIIHDSVEGSGILMCSIDNLPAQLPIEATECFGDMLYPYVEEMILSDATQPLESQNFSPVVRDAVIT
  SNGTLPDKYKYIQTLRESRERAQSLSMGTRRKVLVLGSGYISEPVLEYLSRDGNIEITVGSDMKNQIEQLGKKYN
  INPVSMDICKQEEKLGFLVAKQDLVISLLPYVLHPLVAKACITNKVNMVTASYITPALKELEKSVEDAGITIIGE
  LGLDPGLDHMLAMETIDKAKEVGATIESYISYCGGLPAPEHSNNPLRYKFSWSPVGVLMNVMQSATYLLDGKVVN
  VAGGISFLDAVTSMDFFPGLNLEGYPNRDSTKYAEIYGISSAHTLLRGTLRYKGYMKALNGFVKLGLINREALPA
  FRPEANPLTWKQLLCDLVGISPSSEHDVLKEAVLKKLGGDNTQLEAAEWLGLLGDEQVPQAESILDALSKHLVMK
  LSYGPEEKDMIVMRDSFGIRHPSGHLEHKTIDLVAYGDINGFSAMAKTVGLPTAMAAKMLLDGEIGAKGLMGPFS
  KEIYGPILERIKAEGIIYTTQSTIKP

• Structural information:
  • Interpro: IPR007886  IPR007698  IPR036291  IPR032095  IPR005097  
  • PDB: 5L76 5L78 5O1N 5O1O 5O1P
  • PDBsum: 5L76 5L78 5O1N 5O1O 5O1P
  • STRING: ENSP00000377040
• Other Databases: GeneCards:  AASS  Malacards:  AASS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0047130	saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	IEA	molecular function
GO:0047131	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006554	lysine catabolic process	TAS	biological process
GO:0019477	L-lysine catabolic process	IEA	biological process
GO:0047131	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0033512	L-lysine catabolic process to acetyl-CoA via saccharopine	IEA	biological process
GO:0005739	mitochondrion	TAS	cellular component
GO:0006554	lysine catabolic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Hyperlysinemia	KEGG:H00188
Saccharopinuria	KEGG:H01242
Hyperlysinemia	KEGG:H00188
Saccharopinuria	KEGG:H01242
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq