AASS
entrez
10157
canonical
uniprot
Q9UDR5
canonical
ensembl
ENSG00000008311
resolver
ensp
ENSP00000377040
resolver
ensp
ENSP00000403768
resolver
ensp
ENSP00000505381
resolver
ensp
ENSP00000505506
resolver
ensp
ENSP00000505671
resolver
ensp
ENSP00000505881
resolver
ensp
ENSP00000505958
resolver
ensp
ENSP00000551903
resolver
ensp
ENSP00000582205
resolver
ensp
ENSP00000582206
resolver
ensp
ENSP00000582207
resolver
ensp
ENSP00000582208
resolver
ensp
ENSP00000734881
resolver
ensp
ENSP00000734892
resolver
enst
ENST00000393376
resolver
enst
ENST00000417368
resolver
enst
ENST00000679511
resolver
enst
ENST00000679579
resolver
enst
ENST00000679847
resolver
enst
ENST00000679864
resolver
enst
ENST00000681434
resolver
enst
ENST00000912146
resolver
enst
ENST00000912147
resolver
enst
ENST00000912148
resolver
enst
ENST00000912149
resolver
genesymbol
AASS
resolver
hgnc
HGNC:17366
resolver
uniprot
A0A7P0T9N4
resolver
uniprot
O95462
resolver
uniprot_entry
A0A7P0T9N4_HUMAN
resolver
uniprot_entry
AASS_HUMAN
resolver
uniprot_sec
O95462
resolver
amino_acid_sequence
MLQVHRTGLGRLGVSLSKGLHHKAVLAVRREDVNAWERRAPLAPKHIKGITNLGYKVLIQPSNRRAIHDKDYVKAGGILQEDISEACLILGVKRPPEEKLMSRKTYAFFSHTIKAQEANMGLLDEILKQEIRLIDYEKMVDHRGVRVVAFGQWAGVAGMINILHGMGLRLLALGHHTPFMHIGMAHNYRNSSQAVQAVRDAGYEISLGLMPKSIGPLTFVFTGTGNVSKGAQAIFNELPCEYVEPHELKEVSQTGDLRKVYGTVLSRHHHLVRKTDAVYDPAEYDKHPERYISRFNTDIAPYTTCLINGIYWEQNTPRLLTRQDAQSLLAPGKFSPAGVEGCPALPHKLVAICDISADTGGSIEFMTECTTIEHPFCMYDADQHIIHDSVEGSGILMCSIDNLPAQLPIEATECFGDMLYPYVEEMILSDATQPLESQNFSPVVRDAVITSNGTLPDKYKYIQTLRESRERAQSLSMGTRRKVLVLGSGYISEPVLEYLSRDGNIEITVGSDMKNQIEQLGKKYNINPVSMDICKQEEKLGFLVAKQDLVISLLPYVLHPLVAKACITNKVNMVTASYITPALKELEKSVEDAGITIIGELGLDPGLDHMLAMETIDKAKEVGATIESYISYCGGLPAPEHSNNPLRYKFSWSPVGVLMNVMQSATYLLDGKVVNVAGGISFLDAVTSMDFFPGLNLEGYPNRDSTKYAEIYGISSAHTLLRGTLRYKGYMKALNGFVKLGLINREALPAFRPEANPLTWKQLLCDLVGISPSSEHDVLKEAVLKKLGGDNTQLEAAEWLGLLGDEQVPQAESILDALSKHLVMKLSYGPEEKDMIVMRDSFGIRHPSGHLEHKTIDLVAYGDINGFSAMAKTVGLPTAMAAKMLLDGEIGAKGLMGPFSKEIYGPILERIKAEGIIYTTQSTIKP
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10775527}. Note=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. {ECO:0000305|PubMed:463877}.; DISEASE: 2,4-dienoyl-CoA reductase deficiency (DECRD) [MIM:616034]: 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. {ECO:0000269|PubMed:24847004}. Note=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. {ECO:0000269|PubMed:24847004}.
uniprot
proteins
ec_number
1.5.1.8
uniprot
proteins
ec_number
1.5.1.9
uniprot
proteins
function
FUNCTION: Bifunctional enzyme that catalyzes the first two steps in lysine degradation. {ECO:0000269|PubMed:10775527, ECO:0000269|PubMed:463877}.
uniprot
proteins
mass_dalton
102132
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 1/6. {ECO:0000269|PubMed:10775527}.; PATHWAY: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 2/6. {ECO:0000269|PubMed:10775527}.
uniprot
proteins
protein_family
AlaDH/PNT family; Saccharopine dehydrogenase family
uniprot
proteins
pubmed
10775527
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24847004
uniprot
proteins
pubmed
463877
uniprot
proteins
sequence_length
926
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:463877}.
uniprot
proteins