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AASS Gene

protein-coding   GIFtS: 55

GC07M116077
aminoadipate-semialdehyde synthase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

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

Aliases & Descriptions
aminoadipate-semialdehyde synthase1 2     OTTHUMP000002114022
LORSDH1 2     alpha-aminoadipate semialdehyde synthase2
LKRSDH1 2     OTTHUMP000002114002
LKR/SDH2 3     aminoadipic semialdehyde synthase2
lysine-2-oxoglutarate reductase2     lysine-ketoglutarate reductase /saccharopine dehydrogenase2
alpha-aminoadipic semialdehyde synthase, mitochondrial2     

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

Export aliases for AASS gene to outside databases

Previous GC identifers: GC07M120194 GC07M121256 GC07M121270 GC07M121310 GC07M121503 GC07M121713


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AASS gene promoter:
         POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   GATA-1   COUP-TF1   HNF-4alpha2   NF-1   POU2F1   oct-B3   POU2F2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for AASS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M116077:  view genomic region     (about GC identifiers)

Start:
116,077,048 bp from pter
End:
116,147,810 bp from pter
Size:
70,763 bases
Orientation:
minus strand

1 alternative location:
Chr7- 121,715,701-121,784,334     
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NT_079596.2  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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 phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_005754.2  

    ENSEMBL proteins: 
    ENSP00000377040 ENSP00000403768 ENSP00000414001 ENSP00000351834 ENSP00000394180 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    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
    GenScript Custom Purified and Recombinant Proteins Services for AASS 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IDA18029348
    GO:0005739 mitochondrion TAS10567240
    GO:0005759 mitochondrial matrix TAS--
    GO:0043231 intracellular membrane-bounded organelle IDA18029348
    About this table

    AASS for ontologies           About GeneDecksing



    Antibodies for AASS: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for AASS
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for AASS 
    Browse antibodies at Epitomics

    Assays for AASS: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AASS 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for AASS 


    (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 Ala_DH/PNT_C
     IPR005097 Saccharopine_DH/HSpermid_syn
     IPR007886 Ala_DH/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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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
    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 + 2-aminoadipate
    6-semialdehyde + NADH
    Induction: Induced by starvation (By similarity)

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for AASS
    Sigma-Aldrich shRNA for AASS
    OriGene 29mer shRNA kits in GFP-retroviral vector: AASS
    OriGene shRNA RFP: AASS
    OriGene basic RS shRNA: AASS
    OriGene siRNA: AASS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of AASS 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of AASS 
    Search SABiosciences for Assays for microRNAs that regulate AASS

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: AASS
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: AASS
    OriGene untagged cDNA clones in CMV expression vector: AASS
    OriGene 3'-UTR clone: AASS 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for AASS 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for AASS 

    4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488 binding IEA--
    GO:0016491 oxidoreductase activity IEA--
    GO:0047130 saccharopine dehydrogenase (NADP+, L-lysine-forming) activity TAS--
    GO:0047131 saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity TAS--
    About this table

    AASS for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    AASS for pathways           About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  AASS
        Lysine Degradation
    Lysine Biosynthesis

    3 Kegg Pathways  (Kegg details for AASS):
        hsa00300 Lysine biosynthesis
    hsa00310 Lysine degradation
    hsa01100 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

        SABiosciences Pathway-Focused PCR Arrays including AASS: PAHS-094A PAHS-3401A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for AASS
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AASS

    5/236 Interacting proteins for AASS (ENSP000003518343 Q9UDR52) via UniProtKB, MINT, and/or STRING (see all 236)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    KARSQ150462STRING: ENSP00000325448 MINT-8079030
    AARS2Q5JTZ92MINT-8079030
    ACAD9Q9H8452MINT-8079030
    ACADVLP497482MINT-8079030
    ACOT9Q9Y3052MINT-8079030
    About this table

    4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006554 lysine catabolic process TAS--
    GO:0019477 L-lysine catabolic process IEA--
    GO:0051262 protein tetramerization TAS10567240
    GO:0055114 oxidation-reduction process IEA--
    About this table

    AASS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    AASS for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AASS
    10/16 Novoseek chemical compound relationships for AASS gene (see all 16)
    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)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for AASS
    Sigma-Aldrich shRNA for AASS
    OriGene 29mer shRNA kits in GFP-retroviral vector: AASS
    OriGene shRNA RFP: AASS
    OriGene basic RS shRNA: AASS
    OriGene siRNA: AASS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of AASS 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of AASS 
    Search SABiosciences for Assays for microRNAs that regulate AASS
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: AASS
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: AASS
    OriGene untagged cDNA clones in CMV expression vector: AASS
    OriGene 3'-UTR Clone: AASS 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for AASS 
    Primers: OriGene genome-wide validated SYBR primer pairs: AASS
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for AASS: PPH23904A

    REFSEQ mRNAs for AASS gene: 

    NM_005763.3  

    Additional cDNA 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.40274506  DT.91701477 
    DT.121112877 

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

    BG569401 AI365151 W20467 BM669241 BE326875 NM_005763 AI417993 AI621212 
    BF439626 AI912536 AW467126 AI733086 AA485511 AA729905 AW006283 BE464260 
    AW512404 R79056 BF109455 AA256200 AI651132 BE550610 AI917478 BQ024134 

    highest scoring ESTs for AASS:

    AJ007714 AF229180 AI431918 AL699223 AU100512 BX498682 CD654519 CD656282 AA721427 AI022321 

    Unigene Cluster for AASS:

    Aminoadipate-semialdehyde synthase
    Hs.156738  [show with all ESTs]
    Unigene Representative Sequence: NM_005763


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for AASS (see all 7)

    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:                                                                              

    About this scheme

    ECgene alternative splicing isoforms for AASS
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460376 ENST00000393376(uc011knu.1 uc003vka.2 uc011knv.1)
    ENST00000473553(uc011knw.1) ENST00000417368(uc003vkb.2) ENST00000431170
    ENST00000358954 ENST00000426162

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    AASS expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching AASS gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    35870_at2, 3 U95-A 1 1.00 1.00 0.91 0.88 AJ007714 1.00 1.00 1.00 1
    91550_r_at2, 3 U95-E 1 0.75 1.00 0.95 1.12 AI431918 0.80 1.00 0.91 1
    210852_s_at2, 3 U133-A 1 0.91 1.00 -- -- AF229180 0.80 1.00 0.91 1
    214829_at2, 3 U133-A 1 0.82 1.00 -- -- AK023446 0.60 1.00 0.82 1
    210852_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    214829_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    About this table

    AASS for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    AASS gene expression
    AASS gene electronic northern expression
    AASS gene sage expression
    About these images

    CGAP SAGE TAG: AAAGGCCACA

    SOURCE GeneReport for Unigene cluster: Hs.156738

    Expression variation in blood from EXPOLDB for AASS

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

    Primers: OriGene genome-wide validated SYBR primer pairs: AASS
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for AASS: PPH23904A
        SABiosciences Expression via Pathway-Focused PCR Arrays including AASS: PAHS-094A PAHS-3401A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for AASS gene from 5/18 species (see all 18)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    AASS1   -- aminoadipate-semialdehyde synthase 86.88(n)
    89.89(a)
    482429  XM_539546.2  XP_539546.2 
    chimpanzee
    (Pan troglodytes)
    AASS1   -- aminoadipate-semialdehyde synthase 99.5(n)
    99.68(a)
    472493  XM_527868.2  XP_527868.2 
    cow
    (Bos taurus)
    AASS1   -- aminoadipate-semialdehyde synthase 89.44(n)
    90.38(a)
    520865  XM_599115.3  XP_599115.3 
    rat
    (Rattus norvegicus)
    Aass1   -- aminoadipate-semialdehyde synthase 79.13(n)
    78.95(a)
    296925  XM_231524.4  XP_231524.4 
    mouse
    (Mus musculus)
    Aass1 , 5 6 (10.27 cM)5
    aminoadipate-semialdehyde synthase1, 5 84.68(n)1
    87.57(a)1
    309561  NM_013930.31  NP_038958.21 
     AJ2247615  AK0443235  (see all 13)
    About this table        Species with no ortholog for AASS

    ENSEMBL Gene Tree for AASS (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section
    QIAGEN SeqTarget long-range PCR primers for resequencing AASS 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AASS for disorders           About GeneDecksing

    OMIM: 605113   disorders: 238700  268700  

    UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5

  • Defects in AASS are the cause of hyperlysinemia [MIM:238700]. Hyperlysinemia is an autosomal recessive
  • condition characterized by hyperlysinemia lysinuria and variable saccharopinuria

    3 Novoseek disease relationships for AASS gene

    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)
    About this table

    Human Gene Mutation Database (HGMD): AASS
    Human Genome Epidemiology (HuGE) Navigator: AASS (1 document)

    Export disorders and mutations for AASS gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/68 PubMed articles for AASS gene, integrated from 7 sources (see all 68):
    (articles sorted by number of sources associating them with AASS)
    1. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. (PubMed id 10775527)1, 2, 3, 7 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. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    4. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    5. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1 Scherer S.W.... Tsui L.-C. (2003)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse. (PubMed id 10567240)1 Papes F....Arruda P. (1999)

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    (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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