Entity Details

Primary name AASS_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UDR5
EntryNameAASS_HUMAN
FullNameAlpha-aminoadipic semialdehyde synthase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length926
SequenceStatuscomplete
DateCreated2004-04-13
DateModified2021-06-02

Ontological Relatives

GenesAASS

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

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR005097 Saccharopine dehydrogenase, NADP binding domainDomainDomain
IPR007698 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domainDomainDomain
IPR007886 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminalDomainDomain
IPR032095 Saccharopine dehydrogenase-like, C-terminalDomainDomain
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

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.

Drugs

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DrugNameSourceType
DB00142 Glutamic acidDrugbanksmall molecule
DB00157 NADHDrugbanksmall molecule
DB02338 NADPHDrugbanksmall molecule
DB04207 L-SaccharopineDrugbanksmall molecule

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
AASS_HUMANOGT1_HUMANBioGRID32994395 details
AASS_HUMANTERF2_HUMANBioGRID20811636 details