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Aliases for AASS Gene

Aliases for AASS Gene

  • Aminoadipate-Semialdehyde Synthase 2 3 5
  • 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 Hyperlysinemia and Saccharopinuria. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include oxidoreductase activity and 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

Additional gene information for AASS Gene

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

Genomics for AASS Gene

Regulatory Elements for AASS Gene

Enhancers for AASS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H122092 0.7 ENCODE 10.9 +51.2 51183 0.5 CTCF ZNF654 TRIM22 ELF1 RAD21 ZNF592 RFX5 CBX5 POLR2A MBD1 AASS RNU7-154P
GH07H122140 0.4 dbSUPER 5 +3.3 3259 1.1 POLR2A AASS RNU7-154P
GH07H122147 0.7 ENCODE dbSUPER 0.7 -4.6 -4588 2.6 ZSCAN4 POU5F1 ETS1 FEZF1-AS1 AASS LOC100130618
GH07H122143 0.7 Ensembl dbSUPER 0.7 +2.1 2090 0.4 ZNF664 ZSCAN5C AASS RNU7-154P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AASS on UCSC Golden Path with GeneCards custom track

Promoters for AASS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000217465 389 2200 PKNOX1 FOXA2 ATF1 ZNF133 ARID4B ZNF2 YY1 GLIS2 SP3 SP5

Genomic Locations for AASS Gene

Genomic Locations for AASS Gene
70,747 bases
Minus strand

Genomic View for AASS Gene

Genes around AASS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AASS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.

    Three dimensional structures from OCA and Proteopedia for AASS Gene

neXtProt entry for AASS Gene

Post-translational modifications for AASS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AASS Gene

No data available for DME Specific Peptides for AASS Gene

Domains & Families for AASS Gene

Gene Families for AASS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AASS Gene

Graphical View of Domain Structure for InterPro Entry



  • In the N-terminal section; belongs to the AlaDH/PNT family.
  • 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

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:0004753 saccharopine dehydrogenase activity IBA --
GO:0016491 oxidoreductase activity IEA --
GO:0047130 saccharopine dehydrogenase (NADP+, L-lysine-forming) activity EXP 6434529
GO:0047131 saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity NAS,EXP 10775527
genes like me logo Genes that share ontologies with AASS: view
genes like me logo Genes that share phenotypes with AASS: view

Human Phenotype Ontology for AASS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for AASS Gene

miRTarBase miRNAs that target AASS

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for AASS Gene

Localization for AASS Gene

Subcellular locations from UniProtKB/Swiss-Prot for AASS Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AASS gene
Compartment Confidence
mitochondrion 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Vesicles (4)
See all subcellular structures

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 & Interactions for AASS Gene

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

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:0006091 generation of precursor metabolites and energy IBA --
GO:0006554 lysine catabolic process NAS,TAS --
GO:0008152 metabolic process IEA --
GO:0019477 L-lysine catabolic process IEA --
GO:0019878 lysine biosynthetic process via aminoadipic acid IBA --
genes like me logo Genes that share ontologies with AASS: view

No data available for SIGNOR curated interactions for AASS Gene

Drugs & Compounds for AASS Gene

(13) Drugs for AASS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 236
Famotidine Approved Pharma Histamine H2-receptor antagonist 62
Water Approved Pharma 0
L-Lysine Approved Nutra Full agonist, Agonist 0
N-(5-Amino-5-Carboxypentyl)Glutamic Acid Experimental Pharma Target 0

(16) Additional Compounds for AASS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (S)-N-(5-amino-5-carboxypentyl)-L-Glutamic acid
  • epsilon-N-(L-Glutar-2-yl)-L-lysine
  • L-N-(5-Amino-5-carboxypentyl)-Glutamic acid
  • L-Saccharopin
  • L-Saccharopine
  • (2S)-2-amino-6-oxohexanoate
  • (2S)-2-amino-6-oxohexanoic acid
  • 2-Amino-5-formylvalerate
  • 2-Amino-5-formylvaleric acid
  • 2-Amino-hexanedioate
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for AASS Gene

Protein differential expression in normal tissues from HIPED for AASS Gene

This gene is overexpressed in Liver (25.3), Bone (6.6), Uterus (6.3), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AASS Gene

Protein tissue co-expression partners for AASS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AASS Gene:


SOURCE GeneReport for Unigene cluster for AASS Gene:


mRNA Expression by UniProt/SwissProt for AASS Gene:

Tissue specificity: Expressed in all 16 tissues examined with highest expression in the liver.

Evidence on tissue expression from TISSUES for AASS Gene

  • Liver(4.5)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AASS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • head
  • blood
  • peripheral nervous system
  • red blood cell
genes like me logo Genes that share expression patterns with AASS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 33 34
  • 99.5 (n)
(Bos Taurus)
Mammalia AASS 33 34
  • 89.48 (n)
(Canis familiaris)
Mammalia AASS 33 34
  • 86.88 (n)
(Monodelphis domestica)
Mammalia AASS 34
  • 85 (a)
(Mus musculus)
Mammalia Aass 33 16 34
  • 84.68 (n)
(Rattus norvegicus)
Mammalia Aass 33
  • 84.54 (n)
(Ornithorhynchus anatinus)
Mammalia AASS 34
  • 76 (a)
(Gallus gallus)
Aves AASS 33 34
  • 74.18 (n)
(Anolis carolinensis)
Reptilia AASS 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aass 33
  • 71.31 (n)
(Danio rerio)
Actinopterygii aass 33 34
  • 64.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta LKR 33 34
  • 54.02 (n)
BEST:CK02318 35
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008632 33
  • 53.68 (n)
(Caenorhabditis elegans)
Secernentea CELE_R02D3.1 33
  • 55.19 (n)
R02D3.1 35 34
  • 48 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18744g 33
  • 50.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS9 33 34 36
  • 50.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G33150 33
  • 48.96 (n)
(Oryza sativa)
Liliopsida Os02g0783700 33
  • 50.15 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3B8.03 33
  • 48.3 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03748 33
  • 47.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5709 33
Species where no ortholog for AASS was found in the sources mined by GeneCards:
  • 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
rs387906333 Pathogenic 122,098,496(-) CATTT(-/GTAAACAAG)AAGAG nc-transcript-variant, cds-indel
rs587777121 Pathogenic 122,077,833(+) ACAGA(AA/CTTAC)CATCA splice-donor-variant
rs587777122 Pathogenic 122,116,653(+) ACTTA(C/T)GTAGC nc-transcript-variant, reference, missense
rs587777123 Pathogenic 122,115,140(+) GACTC(-/TG)AGCAT nc-transcript-variant, reference, frameshift-variant
rs587777124 Pathogenic 122,091,794(+) TGTTT(C/G)AATGT nc-transcript-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
nsv608335 CNV loss 21841781
nsv608334 CNV loss 21841781
nsv523632 CNV loss 19592680
nsv1016617 CNV loss 25217958
esv3891198 CNV gain 25118596
esv3614835 CNV loss 21293372
esv2665877 CNV deletion 23128226
dgv6602n100 CNV loss 25217958

Variation tolerance for AASS Gene

Residual Variation Intolerance Score: 18.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AASS Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for AASS Gene

MalaCards: The human disease database

(5) MalaCards diseases for AASS Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
  • saccharopinuria
  • saccharopine dehydrogenase deficiency
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
  • ornithine translocase deficiency
2,4-dienoyl-coa reductase deficiency
  • 2,4-alpha dienoyl-coa reductase deficiency
pyrimidine metabolic disorder
  • pyrimidine metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
Search AASS in MalaCards View complete list of genes associated with diseases


  • 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}.
  • 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.

Relevant External Links for AASS

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AASS: view

No data available for Genatlas for AASS Gene

Publications for AASS Gene

  1. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. (PMID: 10775527) Sacksteder KA … Geraghty MT (American journal of human genetics 2000) 2 3 4 22 60
  2. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. (PMID: 24847004) Houten SM … Wanders RJ (Human molecular genetics 2014) 3 4 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 60
  5. 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 SA … Azevedo RA (European journal of biochemistry 1997) 22 25 60

Products for AASS Gene

Sources for AASS Gene

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