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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 Lysine degradation 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 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
GH07G122142 1.6 FANTOM5 ENCODE dbSUPER 11.4 +0.2 193 2.3 PKNOX1 FOXA2 ATF1 ARID4B FEZF1 ZNF2 ZNF48 YY1 GLIS2 GATA2 AASS FEZF1-AS1 PTPRZ1 RNU7-154P
GH07G122092 0.7 ENCODE 10.9 +51.2 51183 0.5 CTCF ZNF654 TRIM22 RAD21 RFX5 CBX5 POLR2A MBD1 SMC3 ZNF143 AASS RNU7-154P
GH07G122140 0.4 dbSUPER 5 +3.3 3259 1.1 POLR2A CHD1 AASS RNU7-154P
GH07G122147 0.8 ENCODE dbSUPER 0.7 -4.6 -4588 2.6 HDAC2 ZSCAN4 POU5F1 CHD7 ETS1 FEZF1-AS1 AASS LOC100130618
GH07G122148 0.8 ENCODE dbSUPER 0.7 -3.0 -3042 0.1 CTCF TEAD4 ELF4 ZBTB40 FEZF1-AS1 AASS LOC100130618
- 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 FEZF1 ZNF2 ZNF48 YY1 GLIS2

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

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

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.

Gene Ontology (GO) - Molecular Function for AASS Gene

GO ID Qualified GO term Evidence PubMed IDs
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 EXP,NAS 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

Clone Products

  • Applied Biological Materials Clones for AASS

No data available for Enzyme Numbers (IUBMB) , 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
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

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:0006554 lysine catabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0019477 L-lysine catabolic process IEA --
GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine IEA --
GO:0051262 protein tetramerization TAS 10567240
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
Famotidine Approved Pharma Histamine H2-receptor antagonist 61
Water Approved Pharma 0
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

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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AASS

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 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:

AASS

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.

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

Primer 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 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia AASS 34 35
  • 89.48 (n)
dog
(Canis familiaris)
Mammalia AASS 34 35
  • 86.88 (n)
oppossum
(Monodelphis domestica)
Mammalia AASS 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aass 34 16 35
  • 84.68 (n)
rat
(Rattus norvegicus)
Mammalia Aass 34
  • 84.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AASS 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves AASS 34 35
  • 74.18 (n)
lizard
(Anolis carolinensis)
Reptilia AASS 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aass 34
  • 71.31 (n)
zebrafish
(Danio rerio)
Actinopterygii aass 34 35
  • 64.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta LKR 34 35
  • 54.02 (n)
BEST:CK02318 36
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008632 34
  • 53.68 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_R02D3.1 34
  • 55.19 (n)
R02D3.1 36 35
  • 48 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18744g 34
  • 50.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS9 34 35 37
  • 50.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G33150 34
  • 48.96 (n)
rice
(Oryza sativa)
Liliopsida Os02g0783700 34
  • 50.15 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3B8.03 34
  • 48.3 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03748 34
  • 47.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5709 34
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

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
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
dgv6602n100 CNV loss 25217958
esv2665877 CNV deletion 23128226
esv3614835 CNV loss 21293372
esv3891198 CNV gain 25118596
nsv1016617 CNV loss 25217958
nsv523632 CNV loss 19592680
nsv608334 CNV loss 21841781
nsv608335 CNV loss 21841781

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)
AASS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AASS

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: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperlysinemia
  • saccharopinuria
saccharopinuria
  • alpha-aminoadipic semialdehyde synthase deficiency
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
  • hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
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

UniProtKB/Swiss-Prot

AASS_HUMAN
  • 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)
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 22 64
  2. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. (PMID: 24847004) Houten S.M. … Wanders R.J. (Hum. Mol. Genet. 2014) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64
  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 S.A. … Azevedo R.A. (Eur. J. Biochem. 1997) 22 25 64

Products for AASS Gene

Sources for AASS Gene

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