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

AASS Gene

protein-coding   GIFtS: 61
GCID: GC07M121713

aminoadipate-semialdehyde synthase

 Explore 15 diseases affiliated with
AASS via our new
 Human Malady Compendium 
Biological research products
for AASS
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aminoadipate-Semialdehyde Synthase1 2     Alpha-Aminoadipic Semialdehyde Synthase, Mitochondrial2
LKRSDH1 2     Aminoadipic Semialdehyde Synthase2
LORSDH1 2     Lysine-2-Oxoglutarate Reductase2
LKR/SDH2 3     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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UDR5

  • AASS Protein expression data from MOPED and PaxDb:    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: 
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    Uscn 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



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

    AASS for domains           About GeneDecksing

    4 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    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 - Customizable classic, inducible, and humanized mouse model solutions for AASS 

    miRNA
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    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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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    2lysine degradation II
    lysine degradation II1.00
    Lysine biosynthesis0.50
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00
    4Lysine catabolism
    Lysine catabolism1.00
    5Lysine degradation
    Lysine degradation1.00

    Pathway sources
    See GeneCards unified pathways
    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


    3         Kegg Pathways  (Kegg details for AASS):
        Lysine biosynthesis
    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)

    5/240 Interacting proteins for AASS (Q9UDR52, 3 ENSP000003770404) via UniProtKB, MINT, STRING, and/or I2D (see all 240)

    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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, 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
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    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 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 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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

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    Additional cDNA sequence: 

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

    10 DOTS entries:

    DT.97818478  DT.447975  DT.100784090  DT.95261180  DT.92036833  DT.121049109  DT.40129587  DT.91701477 
    DT.121112877  DT.40274506 

    24/166 AceView cDNA sequences (see all 166):

    AA886761 AA729905 BE674228 BE466144 AI634665 AA976207 AI373472 BF593537 
    BE550610 AI917478 AF229180 AW467126 AA485511 AW827094 BF439626 AI651132 
    AI791579 AI621212 AW512404 NM_005763 AJ007714 BG569401 W20467 W32719 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAGGCCACA
    AASS Expression
    About this image

    AASS expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    CyT49 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    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
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              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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AASS gene from 10/30 species (see all 30)    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
    --
    75(a)
    1 ↔ 1
    5(68405922-68440333)
    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)3
    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); more4
    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 more 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, UniProtKB, 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

    10/1074 NCBI SNPs in AASS are shown (see all 1074    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2018519161,2
    C--116086573(-) TCTCTC/TTCTTT 1 -- int10--------
    rs2005598091,2
    C--116138784(-) GTTTTC/TTTTTT 1 -- int10--------
    rs354564151,2
    C--116149198(+) CTGCC-/TTCCTA 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1158233401,2
    C,F--121107811(+) AATTCT/CCATTG 1 -- ds50011Minor allele frequency- C:0.02WA 118
    rs126742871,2
    C,F,H--121107918(+) GCGCCG/ATTTTA 1 -- ds500116Minor allele frequency- A:0.09NS EA NA CSA WA 2092
    rs792087951,2
    F--121108512(+) TCTCTA/GTATAT 1 -- ut311Minor allele frequency- G:0.02EA 120
    rs125402161,2
    C,H--121108772(+) atctgC/Tgcaca 1 -- ut310--------
    rs749855001,2
    C,F--121109301(+) ATTTAC/TGCCAT 1 -- ut311Minor allele frequency- T:0.09WA 118
    rs1167485061,2
    C,F--121109377(+) TTTTTA/GTATGC 1 -- ut312Minor allele frequency- G:0.02WA NA 238
    rs769500961,2
    --121110245(+) AGGGGG/AAAATA 1 -- ut313Minor allele frequency- A:0.11CSA WA EA 240

    HapMap Linkage Disequilibrium report for AASS (121713598 - 121784344 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AASS: --
    Human Gene Mutation Database (HGMD): AASS

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    (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.)
    About This Section

    AASS for disorders           About GeneDecksing

    OMIM gene information: 605113   
    OMIM disorders: 238700  268700  
    UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
  • Defects in AASS are the cause of hyperlysinemia (HYPLYS) [MIM:238700]. Hyperlysinemia is an autosomal
  • recessive condition characterized by hyperlysinemia lysinuria and variable saccharopinuria

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

    3 Novoseek 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)

    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 80):
    (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. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    3. 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)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. 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)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. 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)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    9. 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)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (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



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