Entity Details

Primary name AASS
Entity type gene
Source Source Link

Details

PrimaryID10157
RefseqGeneNG_008140
SymbolAASS
Nameaminoadipate-semialdehyde synthase
Chromosome7
Location7q31.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-05-31
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAASS_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0003714 transcription corepressor activity
GO:0004753 saccharopine dehydrogenase activity
GO:0004754 saccharopine dehydrogenase (NAD+, L-lysine-forming) activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0006554 lysine catabolic process
GO:0019878 lysine biosynthetic process via aminoadipic acid
GO:0031061 negative regulation of histone methylation
GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine
GO:0042393 histone binding
GO:0043231 intracellular membrane-bounded organelle
GO:0047130 saccharopine dehydrogenase (NADP+, L-lysine-forming) activity
GO:0047131 saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity

Diseases

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Disease IDSourceNameDescription
238700 OMIMHyperlysinemia, 1 (HYPLYS1)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. The disease is caused by variants affecting the gene represented in this entry. In hyperlysinemia 1, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine. Some individuals, however, retain significant amounts of lysine-ketoglutarate reductase and present with saccharopinuria, a metabolic condition with few, if any, clinical manifestations.
616034 OMIM2,4-dienoyl-CoA reductase deficiency (DECRD)A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. The protein represented in this entry is involved in disease pathogenesis. A selective decrease in mitochondrial NADP(H) levels due to NADK2 mutations causes a deficiency of NADPH-dependent mitochondrial enzymes, such as DECR1 and AASS.

Interactions

45 interactions

InteractorPartnerSourcesPublicationsLink
AASSOGTBioGRID32994395 details
AASSTERF2BioGRID20811636 details
AASSMYCBioGRID, IntAct17314511 details
AASSMRPL58BioGRID, MINT20186120 details
AASSHSCBBioGRID, IntAct28380382 details
AASSVPS37DBioGRID, IntAct28514442 details
AASSHSPD1BioGRID, IntAct29568061 details
AASSPDK1BioGRID, IntAct29568061 details
AASSTRMT61BBioGRID, IntAct29568061 details
AASSP2RY6BioGRID, IntAct30833792 details
AASSDCP1ABioGRID24778252 details
AASSACADMBioGRID26344197 details
AASSFBXL13BioGRID29348145 details
AASSHOOK1BioGRID28718761 details
AASSHOOK3BioGRID28718761 details
AASSNINBioGRID28718761 details
AASSP4HA1BioGRID31536960 details
AASSHSP90AA1BioGRID31536960 details
AASSHSP90AB1BioGRID31536960 details
AASSSND1BioGRID31536960 details
AASSLRPPRCBioGRID31536960 details
AASSHADHABioGRID31536960 details
AASSATP5F1CBioGRID31536960 details
AASSVDAC2BioGRID31536960 details
AASSATP5PBBioGRID31536960 details
AASSSHMT2BioGRID31536960 details
AASSVCPBioGRID31536960 details
AASSBCAP31BioGRID31536960 details
AASSCTNNB1BioGRID31536960 details
AASSPLEKHA4BioGRID31091453 details
AASSIMMP2LBioGRID31617661 details
AASSAUHBioGRID32877691 details
AASSGATD3BioGRID32877691 details
AASSMDH2BioGRID32877691 details
AASSMETTL17BioGRID32877691 details
AASSSSBP1BioGRID32877691 details
AASSEXD2BioGRID32877691 details
AASSNR3C1BioGRID31182584 details
AASSAARS2BioGRID34079125 details
AASSCOX4I1BioGRID34079125 details
AASSCOX8ABioGRID34079125 details
AASSCSBioGRID34079125 details
AASSPDHA1BioGRID34079125 details
AASSTRAP1BioGRID34079125 details
AASSAPEX1BioGRID28986522 details