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Aliases for AASS Gene

Aliases for AASS Gene

  • Aminoadipate-Semialdehyde Synthase 2 3
  • LKR/SDH 3 4
  • Lysine-Ketoglutarate Reductase /Saccharopine Dehydrogenase 3
  • Alpha-Aminoadipic Semialdehyde Synthase, Mitochondrial 3
  • Alpha-Aminoadipate Semialdehyde Synthase 3
  • Aminoadipic Semialdehyde Synthase 3
  • Lysine-2-Oxoglutarate Reductase 3
  • LKRSDH 3
  • LORSDH 3

External Ids for AASS Gene

Previous GeneCards Identifiers for AASS Gene

  • GC07M120194
  • GC07M121256
  • GC07M121270
  • GC07M121310
  • GC07M121503
  • GC07M121713
  • GC07M116077

Summaries for AASS Gene

Entrez Gene Summary for AASS Gene

  • 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 activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for AASS Gene

AASS (Aminoadipate-Semialdehyde Synthase) is a Protein Coding gene. Diseases associated with AASS include saccharopinuria and hyperlysinemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity.

UniProtKB/Swiss-Prot for AASS Gene

  • 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

Gene Wiki entry for AASS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AASS Gene

Genomics for AASS Gene

Regulatory Elements for AASS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AASS Gene

122,073,544 bp from pter
122,144,290 bp from pter
70,747 bases
Minus strand

Genomic View for AASS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AASS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AASS Gene

Proteins for AASS Gene

  • Protein details for AASS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Alpha-aminoadipic semialdehyde synthase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • O95462

    Protein attributes for AASS Gene

    926 amino acids
    Molecular mass:
    102132 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for AASS Gene

Proteomics data for AASS Gene at MOPED

Post-translational modifications for AASS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AASS Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AASS Gene

Domains for AASS Gene

Protein Domains for AASS Gene

Suggested Antigen Peptide Sequences for AASS Gene

Graphical View of Domain Structure for InterPro Entry



  • Q9UDR5
  • In the N-terminal section; belongs to the AlaDH/PNT family.
  • In the C-terminal section; belongs to the saccharopine dehydrogenase family.
genes like me logo Genes that share domains with AASS: view

No data available for Gene Families for AASS Gene

Function for AASS Gene

Molecular function for AASS Gene

UniProtKB/Swiss-Prot CatalyticActivity: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP(+) + H(2)O = L-lysine + 2-oxoglutarate + NADPH
UniProtKB/Swiss-Prot CatalyticActivity: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate + (S)-2-amino-6-oxohexanoate + NADH
UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot Induction: Induced by starvation.

Gene Ontology (GO) - Molecular Function for AASS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity --
GO:0047130 saccharopine dehydrogenase (NADP+, L-lysine-forming) activity EXP --
GO:0047131 saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity NAS 10775527
genes like me logo Genes that share ontologies with AASS: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for AASS Gene

Localization for AASS Gene

Subcellular locations from UniProtKB/Swiss-Prot for AASS Gene


Subcellular locations from

Jensen Localization Image for AASS Gene COMPARTMENTS Subcellular localization image for AASS gene
Compartment Confidence
mitochondrion 4
nucleus 1

Gene Ontology (GO) - Cellular Components for AASS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 10567240
GO:0005759 mitochondrial matrix TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with AASS: view

Pathways for AASS Gene

genes like me logo Genes that share pathways with AASS: view

Pathways by source for AASS Gene

1 BioSystems pathway for AASS Gene
2 KEGG pathways for AASS Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q9UDR5-AASS_HUMAN

  • Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 1/6
  • Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 2/6

Gene Ontology (GO) - Biological Process for AASS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006554 lysine catabolic process TAS --
GO:0019477 L-lysine catabolic process --
GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with AASS: view

Compounds for AASS Gene

(11) HMDB Compounds for AASS Gene

Compound Synonyms Cas Number PubMed IDs
  • 2-Amino-5-formylvalerate
  • Amfamox
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
  • (+)-S-Lysine
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate

(4) Drugbank Compounds for AASS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
N-(5-Amino-5-Carboxypentyl)Glutamic Acid
  • beta-DPNH
606-68-8 target
Nadph Dihydro-Nicotinamide-Adenine-Dinucleotidephosphate

(16) Novoseek inferred chemical compound relationships for AASS Gene

Compound -log(P) Hits PubMed IDs
saccharopine 96.9 24
alpha-aminoadipic semialdehyde 86 4
mannitol 67.4 15
glyceraldehyde 67.3 3
lysine 62.4 15
genes like me logo Genes that share compounds with AASS: view

Transcripts for AASS Gene

Unigene Clusters for AASS Gene

Aminoadipate-semialdehyde synthase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AASS

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for AASS

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AASS Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a ·
SP1: - - - -
SP2: - - -
SP6: - -

ExUns: 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: - - -
SP2: - - -
SP4: -

Relevant External Links for AASS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AASS Gene

mRNA expression in normal human tissues for AASS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AASS Gene

SOURCE GeneReport for Unigene cluster for AASS Gene Hs.156738

mRNA Expression by UniProt/SwissProt for AASS Gene

Tissue specificity: Expressed in all 16 tissues examined with highest expression in the liver
genes like me logo Genes that share expressions with AASS: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for AASS Gene

Orthologs for AASS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AASS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AASS 35
  • 99.5 (n)
  • 99.68 (a)
  • 100 (a)
(Bos Taurus)
Mammalia AASS 35
  • 89.48 (n)
  • 90.49 (a)
  • 90 (a)
(Canis familiaris)
Mammalia AASS 35
  • 86.88 (n)
  • 89.89 (a)
  • 90 (a)
(Mus musculus)
Mammalia Aass 35
  • 84.68 (n)
  • 87.57 (a)
Aass 16
Aass 36
  • 87 (a)
(Monodelphis domestica)
Mammalia AASS 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia AASS 36
  • 76 (a)
(Rattus norvegicus)
Mammalia Aass 35
  • 84.54 (n)
  • 87.24 (a)
(Gallus gallus)
Aves AASS 35
  • 74.18 (n)
  • 76.02 (a)
  • 74 (a)
(Anolis carolinensis)
Reptilia AASS 36
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aass 35
  • 71.31 (n)
  • 74.56 (a)
(Danio rerio)
Actinopterygii aass 35
  • 64.93 (n)
  • 67.15 (a)
aass 36
  • 65 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008632 35
  • 53.68 (n)
  • 52.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta LKR 35
  • 54.02 (n)
  • 52.01 (a)
LKR 36
  • 50 (a)
BEST:CK02318 37
  • 51 (a)
(Caenorhabditis elegans)
Secernentea CELE_R02D3.1 35
  • 55.19 (n)
  • 49.28 (a)
R02D3.1 36
  • 46 (a)
R02D3.1 37
  • 48 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS9 35
  • 50.49 (n)
  • 39.64 (a)
LYS9 36
  • 39 (a)
LYS9 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18744g 35
  • 50.68 (n)
  • 41.32 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G33150 35
  • 48.96 (n)
  • 39.82 (a)
(Oryza sativa)
Liliopsida Os02g0783700 35
  • 50.15 (n)
  • 41.37 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03748 35
  • 47.79 (n)
  • 41.55 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3B8.03 35
  • 48.3 (n)
  • 37.27 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5709 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
Species with no ortholog for AASS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AASS Gene

Gene Tree for AASS (if available)
Gene Tree for AASS (if available)

Paralogs for AASS Gene

No data available for Paralogs for AASS Gene

Variants for AASS Gene

Sequence variations from dbSNP and Humsavar for AASS Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs12217 -- 122,074,599(+) actta(C/T)aatat utr-variant-3-prime
rs279663 -- 122,101,169(+) ATGAC(C/G)CTATA intron-variant
rs279664 -- 122,104,614(+) aacta(C/T)gtcct intron-variant
rs279665 -- 122,105,911(+) taaaa(A/C)atata intron-variant
rs279666 -- 122,106,149(+) catgt(C/T)atctg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AASS Gene

Variant ID Type Subtype PubMed ID
nsv523632 CNV Loss 19592680
esv2665877 CNV Deletion 23128226

Relevant External Links for AASS Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AASS Gene

Disorders for AASS Gene

MalaCards: The human disease database

MalaCards: The human disease database. (5) Diseases for AASS Gene including...

Search for AASS Gene in MalaCards »

(2) OMIM Diseases for AASS Gene (605113)


  • 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 mutations affecting the gene represented in this entry.
  • 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}.

(3) University of Copenhagen DISEASES for AASS Gene

(3) Novoseek inferred disease relationships for AASS Gene

Disease -log(P) Hits PubMed IDs
diabetes mellitus 3.91 2
ischemia 0 2
edema 0 1

Relevant External Links for AASS

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with AASS: view

Publications for AASS Gene

  1. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. (PMID: 10775527) Sacksteder K.A. … Geraghty M.T. (Am. J. Hum. Genet. 2000) 2 3 4 23
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  4. The enzymology of lysine catabolism in rice seeds--isolation, characterization, and regulatory properties of a lysine 2-oxoglutarate reductase/saccharopine dehydrogenase bifunctional polypeptide. (PMID: 9249048) Gaziola S.A. … Azevedo R.A. (Eur. J. Biochem. 1997) 23 25
  5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PMID: 21890473) Wagner S.A. … Choudhary C. (Mol. Cell Proteomics 2011) 3

Products for AASS Gene

Sources for AASS Gene

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