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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-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

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

Promoters for AASS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AASS on UCSC Golden Path with GeneCards custom track

Genomic Location for AASS Gene

Chromosome:
7
Start:
122,073,544 bp from pter
End:
122,144,290 bp from pter
Size:
70,747 bases
Orientation:
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:
    Q9UDR5-AASS_HUMAN
    Recommended name:
    Alpha-aminoadipic semialdehyde synthase, mitochondrial
    Protein Accession:
    Q9UDR5
    Secondary Accessions:
    • O95462

    Protein attributes for AASS Gene

    Size:
    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

Antibody Products

No data available for DME Specific Peptides for AASS Gene

Domains & Families for AASS Gene

Protein Domains for AASS Gene

Suggested Antigen Peptide Sequences for AASS Gene

Graphical View of Domain Structure for InterPro Entry

Q9UDR5

UniProtKB/Swiss-Prot:

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

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.
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

miRNA for AASS Gene

miRTarBase miRNAs that target AASS

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for AASS Gene

Localization for AASS Gene

Subcellular locations from UniProtKB/Swiss-Prot for AASS Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AASS Gene COMPARTMENTS Subcellular localization image for AASS gene
Compartment Confidence
mitochondrion 5
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for AASS Gene

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:0019477 L-lysine catabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
L-Lysine Approved Nutra Full agonist, Agonist 0
N-(5-Amino-5-Carboxypentyl)Glutamic Acid Experimental Pharma Target 0
Nadph Dihydro-Nicotinamide-Adenine-Dinucleotidephosphate Experimental Pharma Target 0
NADH Nutra Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
saccharopine
  • (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
997-68-2
(S)-2-amino-6-oxohexanoate
Allysine
  • (2S)-2-amino-6-oxohexanoate
  • (2S)-2-amino-6-oxohexanoic acid
  • 2-Amino-5-formylvalerate
  • 2-Amino-5-formylvaleric acid
  • 2-Amino-hexanedioate
1962-83-0
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
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:

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: - - -
SP3:
SP4:
SP5:
SP6: - -
SP7:

ExUns: 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: - - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6:
SP7:

Relevant External Links for AASS Gene

GeneLoc Exon Structure for
AASS
ECgene alternative splicing isoforms for
AASS

Expression for AASS Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for AASS Gene



SOURCE GeneReport for Unigene cluster for AASS Gene Hs.156738

mRNA Expression by UniProt/SwissProt for AASS Gene

Q9UDR5-AASS_HUMAN
Tissue specificity: Expressed in all 16 tissues examined with highest expression in the liver.
genes like me logo Genes that share expression patterns with AASS: view

Protein tissue co-expression partners for AASS Gene

- Elite partner

Primer Products

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia AASS 36
  • 100 (a)
OneToOne
AASS 35
  • 99.5 (n)
  • 99.68 (a)
cow
(Bos Taurus)
Mammalia AASS 35
  • 89.48 (n)
  • 90.49 (a)
AASS 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AASS 36
  • 90 (a)
OneToOne
AASS 35
  • 86.88 (n)
  • 89.89 (a)
mouse
(Mus musculus)
Mammalia Aass 16
Aass 35
  • 84.68 (n)
  • 87.57 (a)
Aass 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AASS 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AASS 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aass 35
  • 84.54 (n)
  • 87.24 (a)
chicken
(Gallus gallus)
Aves AASS 35
  • 74.18 (n)
  • 76.02 (a)
AASS 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AASS 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aass 35
  • 71.31 (n)
  • 74.56 (a)
zebrafish
(Danio rerio)
Actinopterygii aass 36
  • 65 (a)
OneToOne
aass 35
  • 64.93 (n)
  • 67.15 (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)
BEST:CK02318 37
  • 51 (a)
LKR 36
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R02D3.1 37
  • 48 (a)
CELE_R02D3.1 35
  • 55.19 (n)
  • 49.28 (a)
R02D3.1 36
  • 46 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS9 35
  • 50.49 (n)
  • 39.64 (a)
LYS9 38
LYS9 36
  • 39 (a)
OneToOne
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)
rice
(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)
OneToOne
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

ENSEMBL:
Gene Tree for AASS (if available)
TreeFam:
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
rs279666 -- 122,106,149(+) catgt(C/T)atctg intron-variant
rs279668 -- 122,111,513(+) AAACA(C/T)CTTGG intron-variant
rs279669 -- 122,111,620(+) TATTC(A/G)Tggct intron-variant
rs279670 -- 122,111,662(+) acttt(G/T)ggagg intron-variant
rs279671 -- 122,111,819(+) gaatc(A/G)cttga 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

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

HapMap Linkage Disequilibrium report
AASS
Human Gene Mutation Database (HGMD)
AASS

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

Disorders for AASS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hyperlysinemia
  • alpha-aminoadipic semialdehyde synthase deficiency
saccharopinuria
  • saccharopine dehydrogenase deficiency
2,4-dienoyl-coa reductase deficiency
  • 2,4-dienoyl coa reductase
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
  • ornithine translocase 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

UniProtKB/Swiss-Prot

AASS_HUMAN
  • 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}.

Relevant External Links for AASS

Genetic Association Database (GAD)
AASS
Human Genome Epidemiology (HuGE) Navigator
AASS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AASS
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 K.A. … Geraghty M.T. (Am. J. Hum. Genet. 2000) 2 3 4 23 67
  2. 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 26
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26

Products for AASS Gene

Sources for AASS Gene

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