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AASS Gene

protein-coding   GIFtS: 62
GCID: GC07M121713

Aminoadipate-Semialdehyde Synthase

  See AASS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aminoadipate-Semialdehyde Synthase1 2     Alpha-Aminoadipic Semialdehyde Synthase, Mitochondrial2
LKR/SDH2 3     Aminoadipic Semialdehyde Synthase2
LKRSDH2     Lysine-2-Oxoglutarate Reductase2
LORSDH2     Lysine-Ketoglutarate Reductase /Saccharopine Dehydrogenase2
Alpha-Aminoadipate Semialdehyde Synthase2     

External Ids:    HGNC: 173661   Entrez Gene: 101572   Ensembl: ENSG000000083117   OMIM: 6051135   UniProtKB: Q9UDR53   

Export aliases for AASS gene to outside databases

Previous GC identifers: GC07M120194 GC07M121256 GC07M121270 GC07M121310 GC07M121503 GC07M116077


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 breast lymphoma. GO annotations related to this gene include saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity.

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
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

Gene Wiki entry for AASS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AASS gene promoter:
         NF-YA   Cdc5   NF-YB   CBF-A   CBF-B   FOXJ2 (long isoform)   CP1A   FOXJ2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): AASS promoter sequence
   Search Chromatin IP Primers for AASS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AASS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.3   Ensembl cytogenetic band:  7q31.32   HGNC cytogenetic band: 7q31.3

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M121713:  view genomic region     (about GC identifiers)

Start:
121,713,598 bp from pter      End:
121,784,344 bp from pter
Size:
70,747 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 121,108,272-121,179,018     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5 (See protein sequence)
Recommended Name: Alpha-aminoadipic semialdehyde synthase, mitochondrial precursor  
Size: 926 amino acids; 102132 Da
Subunit: Homodimer (By similarity)
Secondary accessions: O95462

Explore the universe of human proteins at neXtProt for AASS: NX_Q9UDR5

Explore proteomics data for AASS at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AASS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005754.2  
    ENSEMBL proteins: 
     ENSP00000377040   ENSP00000403768   ENSP00000414001   ENSP00000351834   ENSP00000394180  
    Reactome Protein details: Q9UDR5

    AASS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for AASS
    GenScript Custom Purified and Recombinant Proteins Services for AASS
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AASS

     
    Search eBioscience for Proteins for AASS 

    AASS Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Antibodies for AASS
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    Novus Biologicals AASS Antibodies
    Abcam antibodies for AASS
    Cloud-Clone Corp. Antibodies for AASS
    ThermoFisher Antibodies for AASS
    LSBio Antibodies in human, mouse, rat for AASS

    AASS Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AASS
    Cloud-Clone Corp. CLIAs for AASS
    Search eBioscience for ELISAs for AASS 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR007698 AlaDH/PNT_NAD(H)-bd
     IPR005097 Saccharopine_DH/HSpermid_syn
     IPR007886 AlaDH/PNT_N
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9UDR5

    ProtoNet protein and cluster: Q9UDR5

    UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
    Similarity: In the N-terminal section; belongs to the AlaDH/PNT family
    Similarity: In the C-terminal section; belongs to the saccharopine dehydrogenase family


    Find genes that share domains with AASS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AASS_HUMAN, Q9UDR5
    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
    Catalytic activity: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP(+) + H(2)O = L-lysine + 2-oxoglutarate + NADPH
    Catalytic activity: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate +
    (S)-2-amino-6-oxohexanoate + NADH
    Induction: Induced by starvation (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity ----
    GO:0047130saccharopine dehydrogenase (NADP+, L-lysine-forming) activity EXP--
    GO:0047131saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity NAS10775527
         
    Find genes that share ontologies with AASS           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AASS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AASS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AASS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AASS

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat AASS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AASS (see all 24):
    hsa-miR-140-5p hsa-miR-579 hsa-miR-495 hsa-let-7d hsa-miR-376b hsa-let-7c hsa-miR-944 hsa-miR-374a*
    SwitchGear 3'UTR luciferase reporter plasmidAASS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AASS
    Predesigned siRNA for gene silencing in human, mouse, rat AASS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AASS

    Clone
    Products:
         
    OriGene clones in human, mouse for AASS (see all 6)
    OriGene ORF clones in mouse, rat for AASS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AASS (NM_005763)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AASS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AASS

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for AASS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AASS_HUMAN, Q9UDR5: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion TAS10567240
    GO:0005759mitochondrial matrix TAS--
    GO:0043231intracellular membrane-bounded organelle IDA--

    Find genes that share ontologies with AASS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AASS About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Metabolism of amino acids and derivatives
    Lysine catabolism0.00
    Metabolism of amino acids and derivatives
    3lysine degradation II
    lysine degradation II
    4Lysine degradation
    Lysine degradation


    Find genes that share SuperPaths with AASS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for AASS
        lysine degradation II

    1 Reactome Pathway for AASS
        Lysine catabolism


    2 Kegg Pathways  (Kegg details for AASS):
        Lysine degradation
    Metabolic pathways

    UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AASS: 

              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AASS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AASS (Q9UDR52, 3 ENSP000003770404) via UniProtKB, MINT, STRING, and/or I2D (see all 292)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    OATP041812, ENSP000003578384MINT-8079030 STRING: ENSP00000357838
    VDAC1P217962, ENSP000002653334MINT-8079030 STRING: ENSP00000265333
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006554lysine catabolic process TAS--
    GO:0019477L-lysine catabolic process ----
    GO:0033512L-lysine catabolic process to acetyl-CoA via saccharopine IEA--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with AASS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AASS

    Selected HMDB Compounds for AASS (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Allysine2-Amino-5-formylvalerate (see all 20)1962-83-0--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    Saccharopine(S)-N-(5-amino-5-carboxypentyl)-L-Glutamic acid (see all 11)997-68-2--

    4 DrugBank Compounds for AASS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--687635 9249048 17139284 17016423 12226216
    N-(5-Amino-5-Carboxypentyl)Glutamic Acid-- --target--17139284 17016423 10592235
    NADHbeta-DPNH (see all 18)606-68-8target--17542618 17223709 17002315
    Nadph Dihydro-Nicotinamide-Adenine-Dinucleotidephosphate-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for AASS gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    saccharopine 96.9 46 9286108 (6), 11080311 (2), 10775527 (2), 17854830 (2) (see all 15)
    alpha-aminoadipic semialdehyde 86 9 10775527 (3), 9249048 (1)
    mannitol 67.4 17 12615520 (2), 8885129 (2), 9852094 (1), 9513410 (1) (see all 13)
    glyceraldehyde 67.3 3 9513410 (1), 2134294 (1), 12355795 (1)
    lysine 62.4 26 11080311 (2), 10775527 (2), 9286108 (2), 18839315 (1) (see all 12)
    aldose 49.6 2 12615520 (1), 1748066 (1)
    alpha-ketoglutarate 46.4 1 9249048 (1)
    nadh 44.1 8 12962626 (2), 8736155 (1), 11371030 (1), 8885129 (1)
    nad+ 36.6 6 11080311 (1), 12962626 (1)
    fructose 34.8 4 12962626 (1), 8885129 (1)



    Find genes that share compounds with AASS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AASS gene: 
    NM_005763.3  

    Unigene Cluster for AASS:

    Aminoadipate-semialdehyde synthase
    Hs.156738  [show with all ESTs]
    Unigene Representative Sequence: NM_005763
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460376 ENST00000393376(uc011knu.2 uc003vka.3 uc011knv.2)
    ENST00000473553(uc011knw.2) ENST00000417368(uc003vkb.3) ENST00000431170
    ENST00000358954 ENST00000426162
    miRNA
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    Block miRNA regulation of human, mouse, rat AASS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AASS (see all 24):
    hsa-miR-140-5p hsa-miR-579 hsa-miR-495 hsa-let-7d hsa-miR-376b hsa-let-7c hsa-miR-944 hsa-miR-374a*
    SwitchGear 3'UTR luciferase reporter plasmidAASS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AASS
    Clone
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    OriGene clones in human, mouse for AASS (see all 6)
    OriGene ORF clones in mouse, rat for AASS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AASS (NM_005763)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AASS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AASS
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for AASS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AASS
      QuantiTect SYBR Green Assays in human, mouse, rat AASS
      QuantiFast Probe-based Assays in human, mouse, rat AASS

    Additional mRNA sequence: 

    AF229180.1 AK023446.1 AK225898.1 AK294326.1 BC144246.1 BC144247.1 

    9 DOTS entries:

    DT.97818478  DT.447975  DT.100784090  DT.95261180  DT.92036833  DT.40129587  DT.91701477  DT.121112877 
    DT.40274506 

    Selected AceView cDNA sequences (see all 166):

    BE464260 BE465730 R79056 AW613511 AI417993 BM669241 AI365151 BQ024134 
    BF109455 AA256200 AU100512 AA976207 AI373472 BF593537 BE550610 AW467126 
    AF229180 AI917478 AA485511 AW827094 BF439626 BE326875 AI791579 AI651132 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AASS (see all 7)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for AASS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    AASS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGGCCACA
    AASS Expression
    About this image


    AASS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Human embryonic stem cells (family)
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Limb (Muscoskeletal System)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    AASS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AASS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.156738

    UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
    Tissue specificity: Expressed in all 16 tissues examined with highest expression in the liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AASS: 
              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AASS gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aass1 , 5 aminoadipate-semialdehyde synthase1, 5 84.68(n)1
    87.57(a)1
      6 (10.27 cM)5
    309561  NM_013930.41  NP_038958.21 
     230721735 
    chicken
    (Gallus gallus)
    Aves AASS1 aminoadipate-semialdehyde synthase 74.18(n)
    76.02(a)
      417757  XM_416001.4  XP_416001.2 
    lizard
    (Anolis carolinensis)
    Reptilia AASS6
    aminoadipate-semialdehyde synthase
    75(a)
    1 ↔ 1
    5(68396724-68443642)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX773433.12   -- 74.98(n)    BX773433.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aass1 aminoadipate-semialdehyde synthase 64.93(n)
    67.15(a)
      556229  NM_001173985.1  NP_001167456.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BEST:CK023183
    LKR1
    saccharopine dehydrogenase (NAD+,
    L-lysine forming) less3
    lysine ketoglutarate reductase1
    51(a)3
    54.02(n)1
    52.01(a)1
      28C43
    340641  NM_135306.21  NP_609150.21 
    worm
    (Caenorhabditis elegans)
    Secernentea R02D3.13
    CELE_R02D3.11
    dehydrogenase3
    CELE_R02D3.11
    48(a)3
    55.19(n)1
    49.28(a)1
      IV(245197-251718)3
    1768421  NM_067483.41  NP_499884.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LYS9(YNR050C)4
    LYS91
    Saccharopine dehydrogenase (NADP+, L-glutamate-forming); catalyzes the formation of saccharopine from alpha-aminoadipate 6-semialdehyde, the seventh step in lysine biosynthesis pathway; exhibits genetic and physical interactions with TRM112 less4
    LYS91
    50.49(n)1
    39.64(a)1
      14(715388-714048)4
    8557861, 4  NP_014448.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G331501 AT4G33150 48.96(n)
    39.82(a)
      829452  NM_119469.4  NP_567914.1 
    rice
    (Oryza sativa)
    Liliopsida AK120371.12   -- 75.39(n)    AK120371.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AASS (see all 1289)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2022477601,2
    Cuntested1125080597(-) TGCAGC/TCTGCC 2 P S mis10--------
    rs354564151,2
    C--116149197(+) CTGCC-/TTCCTA 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs676597171,2
    C--121723109(+) AGAGA-/AAGAA 
            
    AGAAA
    1 -- int10--------
    rs606900491,2
    C--121732778(+) AAAAA-/ATCTTT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs675323171,2
    C--121735636(-) TTTTT-/TTATGAA 1 -- int11Minor allele frequency- TT:0.00NA 2
    rs349788061,2
    C--121741209(+) TAGAA-/AGCCAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs588107881,2
    C--121744351(+) AAAAAA/-GAATG 1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs574142541,2
    C--121748873(+) AAAAA-/AGAAAA 1 -- int10--------
    rs2012378271,2
    C--121771391(+) AAAAA-/ATCAAA 1 -- int10--------
    rs724570131,2
    C--121774154(+) AGACT-/TTCAGAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for AASS (121713598 - 121784344 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for AASS:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665877CNV Deletion23128226
    nsv523632CNV Loss19592680

    Human Gene Mutation Database (HGMD): AASS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AASS
    DNA2.0 Custom Variant and Variant Library Synthesis for AASS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605113   
    OMIM disorders: 238700  268700  
    UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
  • Hyperlysinemia (HYPLYS) [MIM:238700]: Autosomal recessive condition characterized by hyperlysinemia
    lysinuria and variable saccharopinuria. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 4 diseases for AASS:    
    About MalaCards
    saccharopinuria    breast lymphoma    hyperlysinemia    peliosis hepatis

    3 diseases from the University of Copenhagen DISEASES database for AASS:
    Hyperlysinemia     Peliosis hepatis     Breast lymphoma

    Find genes that share disorders with AASS           About GenesLikeMe

    3 Novoseek inferred disease relationships for AASS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetes mellitus 3.91 2 9513410 (1), 12355795 (1)
    ischemia 0 2 11021367 (2)
    edema 0 1 8063356 (1)

    Genetic Association Database (GAD): AASS
    Human Genome Epidemiology (HuGE) Navigator: AASS (1 document)

    Export disorders for AASS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AASS gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with AASS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. (PubMed id 10775527)1, 2, 3, 9 Sacksteder K.A.... Geraghty M.T. (Am. J. Hum. Genet. 2000)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    4. The enzymology of lysine catabolism in rice seeds--isolation, characterization, and regulatory properties of a lysine 2-oxoglutarate reductase/saccharopine dehydrogenase bifunctional polypeptide. (PubMed id 9249048)7, 9 Gaziola S.A....Azevedo R.A. (Eur. J. Biochem. 1997)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)
    9. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (EMBO J. 2010)
    10. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10157 HGNC: 17366 AceView: AASS Ensembl:ENSG00000008311 euGenes: HUgn10157
    ECgene: AASS Kegg: 10157 H-InvDB: AASS

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AASS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AASS[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AASS gene:
    Search GeneIP for patents involving AASS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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