Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AASS Gene

protein-coding   GIFtS: 63
GCID: GC07M121713

Aminoadipate-Semialdehyde Synthase

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 peliosis hepatis, and among its related super-pathways are Metabolic pathways and 2-oxoglutarate decarboxylation to succinyl-CoA. GO annotations related to this gene include saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity and nucleotide binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AASS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Mitochondrion (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UDR5

  • AASS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AASS Protein Expression
    REFSEQ proteins: NP_005754.2  
    ENSEMBL proteins: 
     ENSP00000377040   ENSP00000403768   ENSP00000414001   ENSP00000351834   ENSP00000394180  
    Reactome Protein details: Q9UDR5
    Human Recombinant Protein Products for AASS: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    AASS for ontologies           About GeneDecksing



    AASS Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for AASS
    GenScript Custom Superior Antibodies Services for AASS
    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 

    Assay Products for AASS: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AASS
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AASS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AASS 
    Cloud-Clone Corp. CLIAs for AASS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    AASS for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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
         
    AASS for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AASS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AASS
    8/24 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AASS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AASS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AASS
    Sirion Biotech Customized adenovirus for overexpression of AASS

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for AASS (see all 7)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of AASS 
                         Customized lentivirus expression plasmids for stable overexpression of AASS 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AASS
    Search LifeMap BioReagents cell lines for AASS
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASS


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AASS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Lysine catabolism
    Lysine catabolism0.38
    3lysine degradation II
    lysine degradation II
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    5Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for AASS
        lysine degradation II

    3        Reactome Pathways for AASS
        Lysine catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    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


    AASS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AASS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/254 Interacting proteins for AASS (Q9UDR52, 3 ENSP000003770404) via UniProtKB, MINT, STRING, and/or I2D (see all 254)

    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
    CLN3Q132863I2D: score=1 
    PXNP490233I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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--

    AASS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AASS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AASS

    10/11 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

    10/16 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)

    Search CenterWatch for drugs/clinical trials and news about AASS

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AASS
    8/24 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AASS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AASS
    Clone
    Products:
         
    OriGene clones in human, mouse for AASS (see all 7)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of AASS 
                         Customized lentivirus expression plasmids for stable overexpression of AASS 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for AASS
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AASS
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AASS
      QIAGEN 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 

    24/166 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

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AASS expression in normal human tissues (normalized intensities)      AASS embryonic expression: see
    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 
     5/28 selected tissues (see all 28) fully expand
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
             endometrial endothelial cell   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             CyT49
             H1-GFP   
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Limb Bud Mesenchyme Cells Limb Bud
             skeleton/axial skeleton   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             kidney ; cells in tubules   

    See AASS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AASS

    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

        SABiosciences Expression via Pathway-Focused 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

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for AASS
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AASS
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AASS
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AASS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASS

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AASS gene from 10/22 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_416001.3  XP_416001.2 
    lizard
    (Anolis carolinensis)
    Reptilia AASS6
    Uncharacterized protein
    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
    Protein R02D3.11
    48(a)3
    55.19(n)1
    49.28(a)1
      IV(245197-251718)3
    1768421  NM_067483.31  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
    Lys9p1
    50.49(n)1
    39.64(a)1
      14(715388-714048)4
    8557861, 4  NP_014448.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G331501 lysine-ketoglutarate reductase/saccharopine dehydrogenase bifunctional enzyme less 48.5(n)
    39.31(a)
      829452  NM_179155.3  NP_849486.1 
    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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1289 SNPs in AASS are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 15 diseases for AASS:    About MalaCards
    hyperlysinemia    peliosis hepatis    saccharopinuria    breast lymphoma
    nemaline myopathy    anoxia    drug dependence    pharyngitis
    diabetic retinopathy    myopathy    ischemia    diabetes mellitus
    hepatocellular carcinoma    endotheliitis    hepatitis

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

    AASS for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for AASS gene, integrated from 9 sources (see all 83):
    (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. (2000)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (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. (1997)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. The SH3 domain of postsynaptic density 95 mediates inf lammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (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. (2010)
    10. The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10157 HGNC: 17366 AceView: AASS Ensembl:ENSG00000008311 euGenes: HUgn10157
    ECgene: AASS Kegg: 10157 H-InvDB: AASS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AASS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AASS

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for AASS  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for AASS  
     OriGene qSTAR qPCR primer pairs in human, mouse for AASS   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for AASS   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for AASS   OriGene Custom Protein Services for AASS  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AASS
     QIAGEN SeqTarget long-range PCR primers for resequencing AASS
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AASS
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AASS
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AASS
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AASS
     GenScript Custom Purified and Recombinant Proteins Services for AASS GenScript cDNA clones with any tag delivered in your preferred vector for AASS
     GenScript Custom Assay Services for AASS GenScript Custom Superior Antibodies Services for AASS
     GenScript Custom overexpressing Cell Line Services for AASS CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in AASS promoter
     Search Chromatin IP Primers for AASS
     RT2 qPCR Primer Assay in human, mouse, rat AASS
     Search GNC Networks for AASS
     SABiosciences PCR Arrays including human, mouse, rat AASS
     Search Tocris compounds for AASS
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     AASS antibodies
     Antibodies for AASS
     See all of Abcam's Antibodies, Kits and Proteins for AASS
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for AASS
     Antibodies for AASS
     ELISAs for AASS
     CLIAs for AASS
     Search LifeMap BioReagents cell lines for AASS
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASS
     SwitchGear 3'UTR luciferase reporter plasmids for AASS
     SwitchGear Promoter luciferase reporter plasmids for AASS
     ThermoFisher Antibodies for AASS
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AASS
     inGenious Targeting Laboratory - Custom generated mouse model solutions for AASS
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AASS
    Customized:
     lentivirus for stable overexpression of AASS
     lentivirus expression plasmids for stable overexpression of AASS
     adenovirus for overexpression of AASS
     LSBio Antibodies in human, mouse, rat for AASS
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      AASS gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4