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AASDH Gene

protein-coding   GIFtS: 53

GC04M056899
aminoadipate-semialdehyde dehydrogenase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ACSF4 1, 2, 3
EC 6.2.1.- 3
LYS2 1, 2
NRPS1098 2
NRPS998 1, 2
U26 3
Descriptions
2-aminoadipic 6-semialdehyde dehydrogenase 2
Protein NRPS998 3
acyl-CoA synthetase family member 4 2
aminoadipate-semialdehyde dehydrogenase 2
non-ribosomal peptide synthetase 1098 2
non-ribosomal peptide synthetase 998 2
External Ids
HGNC: 239931
Entrez Gene: 1329492
UniProtKB: Q4L2353
Ensembl: ENSG000001574267
Search outside databases for aliases for AASDH gene

Previous GC identifer: GC04M057046

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: ACSF4_HUMAN, Q4L235
Function: Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a
thioester with CoA (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AASDH gene  

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

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

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M056899:     (about GC identifiers)

Start:
56,899,213 bp from pter
End:
56,948,395 bp from pter
Size:
49,183 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000004.10  NT_022853.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ACSF4_HUMAN, Q4L235 (See protein sequence)
Recommended Name: Acyl-CoA synthetase family member 4  
Size: 1098 amino acids; 122549 Da
Secondary accessions: A5D8V3 A5PL22 Q63HK2 Q63HR7 Q6IPP8 Q6TFZ6 Q7Z5Y3 Q96BW4 Q9P064
Alternative splicing: 5 isoforms:  Q4L235-1   Q4L235-2   Q4L235-3   Q4L235-4   Q4L235-5   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_861522.2  

    ENSEMBL proteins: 
    ENSP00000205214 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for 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
    Recombinant Proteins from Abcam (AASDH)
    Human Recombinant Proteins from Abnova (AASDH)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


    Antibodies for AASDH: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (AASDH), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (AASDH)
    Novus Biologicals Antibodies for AASDH

    Assays for AASDH: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5/6 InterPro domains/families (see all 6 ):
     IPR006163 Phsphopanteth_bd
     IPR009081 Acyl_carrier_prot-like
     IPR018391 PQQ_beta_propeller_repeat
     IPR000873 AMP-dep_Synth/Lig
     IPR002372 PQQ_repeat


       GeneDecks  AASDH for the domains selected above  
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    Graphical View of Domain Structure for InterPro Entry Q4L235

    ProtoNet protein and cluster: Q4L235

    2 Blocks protein families:
    IPB000873 AMP-binding signature
    IPB002372 Bacterial quinoprotein


    UniProtKB/Swiss-Prot: ACSF4_HUMAN, Q4L235
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family
    Similarity: Contains 1 acyl carrier domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (AASDH)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_181806

                  Applied Biosystems Silencer® siRNAs for AASDH

                  Sigma-Aldrich siRNA for AASDH  
                         Sigma-Aldrich shRNA for AASDH  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for AASDH
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_181806
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_181806
                                     untagged cDNA clone in CMV expression vector: NM_181806 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_181806

    UniProtKB/Swiss-Prot: ACSF4_HUMAN, Q4L235
    Function: Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a
    thioester with CoA (By similarity)
    Enzyme Number (IUBMB): EC 6.2.1.- 

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000036 acyl carrier activity IEA--
    GO:0000166 nucleotide binding IEA--
    GO:0005524 ATP binding IEA--
    GO:0016874 ligase activity IEA--
    GO:0016878 acid-thiol ligase activity ISS--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    3 Sigma-Aldrich "Your Favorite Gene" Pathways for  AASDH  (Your Favorite Gene powered by Ingenuity) 
     Lysine Degradation
     Propanoate Metabolism
     Lysine Biosynthesis

       GeneDecks  AASDH for the pathways selected above  
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    2 Kegg Pathways  (Kegg details for AASDH):
     hsa00300 Lysine biosynthesis
     hsa00310 Lysine degradation

       GeneDecks  AASDH for the pathways selected above  
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    3 Interacting proteins for AASDH (ENSP000002052143) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACSF3ENSP000003206463STRING (score=.999)
    ACSM5ENSP000003279163STRING (score=.809)
    DIP2CENSP000002808863STRING (score=.782)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629 lipid metabolic process IEA--
    GO:0006631 fatty acid metabolic process ISS--
    GO:0008152 metabolic process IEA--
    About this table
    (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

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

    Browse Tocris compounds for AASDH

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    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 Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (AASDH)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_181806

                  Sigma-Aldrich siRNA for AASDH  
                         Sigma-Aldrich shRNA for AASDH  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_181806  

    REFSEQ mRNAs for AASDH gene: 

    NM_181806.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_181806  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_181806
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_181806
                                     untagged cDNA clone in CMV expression vector: NM_181806 

    Additional cDNA sequence: 

    AF161436.1 AF516672.1 AK294332.1 AK303733.1 AK304309.1 AK316296.1 AY314787.1 AY422212.1 
    BC071815.1 BC141824.1 BC142709.1 BX640635.1 BX648853.1 

    8 DOTS entries:

    DT.102840635  DT.204921  DT.409599  DT.100020415  DT.91845353  DT.97802636  DT.91995962  DT.99990104 

    24/88 AceView cDNA sequences (see all 88 ):

    AA972283 BE222228 AI138501 CA843659 BX116011 AI278261 BM142306 NM_181806 
    AI863222 CF528687 AA242754 AA251083 AI291045 BM787517 BQ778385 AI498469 
    BF433048 BU681512 AI768136 AA251720 CA412591 AI192755 CA389655 AI057495 

    highest scoring ESTs for AASDH:

    AA312080 AA453778 AA453862 AF161436 AF516672 AI498469 AI797146 AL708458 AW673610 AY422212 

    Unigene Cluster for AASDH:

    Aminoadipate-semialdehyde dehydrogenase
    Hs.104347  [show with all ESTs]
    Unigene Representative Sequence: BX640635


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000205214  
    (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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    AASDH expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for AASDH

    1 / 2 / 3

    6 probe-sets matching AASDH gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    76421_at2, 3 U95-E 1 1.00 1.00 0.90 0.52 T64900 0.80 1.00 0.91 1
    56800_at2, 3 U95-B 1 0.88 1.00 0.64 1.50 AI797146 0.80 1.00 0.91 1

    235435_at2, 3 U133-B 1 1.00 1.00 -- -- BF433048 0.60 1.00 0.82 1

    228041_at2, 3 U133-B 1 1.00 1.00 -- -- AW772229 0.60 1.00 0.82 1

    235435_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    228041_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  AASDH for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGGACTTATT

    SOURCE GeneReport for Unigene cluster: Hs.104347

    UniProtKB/Swiss-Prot: ACSF4_HUMAN, Q4L235
    Tissue specificity: Ubiquitously expressed in adult tissues

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for AASDH gene from 5/14 species (see all 14 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    AASDH1   -- aminoadipate-semialdehyde dehydrogenase 89.32(n)
    85.9(a)
    482159  XM_539278.2  XP_539278.2 
    chimpanzee
    (Pan troglodytes)
    AASDH1   -- aminoadipate-semialdehyde dehydrogenase 98.32(n)
    97.6(a)
    471237  XM_526619.2  XP_526619.2 
    cow
    (Bos taurus)
    AASDH1   -- aminoadipate-semialdehyde dehydrogenase 88.2(n)
    83.94(a)
    782093  XM_001250588.1  XP_001250589.1 
    rat
    (Rattus norvegicus)
    Aasdh1   -- aminoadipate-semialdehyde dehydrogenase 77.67(n)
    72.32(a)
    364136  XM_344230.3  XP_344231.2 
    mouse
    (Mus musculus)
    Aasdh1, 5 55
    aminoadipate-semialdehyde dehydrogenase1, 5 77.48(n)1
    73.24(a)1
    2313261  NM_173765.21  NP_776126.11 
     AB0959545  AK0320645  (see all 17)
    About this table        Species with no ortholog for AASDH

    ENSEMBL Gene Tree for AASDH
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/315 NCBI SNPs in AASDH are shown (see all 315 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 75)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs119430481,2
    A,C,F,H56949325(+) TTTAGG/ATTGGA 1 -- ng318Minor allele frequency- A:0.20EU EA WA 838
    rs111334391,2
    C,F,H56949092(+) GCAGAG/ATAATC 1 -- ng318Minor allele frequency- A:0.40EU EA WA 830
    rs124983401,2
    C,F,H56906109(+) TGTGGT/CTGGAT 1 A/T mis1 ese312Minor allele frequency- C:0.21EU EA WA NA 1200
    --
    rs19966501,2
    A,C,F56949830(+) tttttC/Ttttct 1 -- ng31 trp31Minor allele frequency- T:0.41MN 91
    rs83401,2
    C,F,H56899534(-) ATAACG/TACAAT 1 Y/D mis1 ese315Minor allele frequency- N:0.00MN EA NA EU WA 2886
    rs37965451,2
    C,F,H56910354(-) TGGTTG/ATAATA 1 I/V mis19Minor allele frequency- A:0.00EA EU WA 1574
    rs37965441,2
    C,F,H56910434(-) ACCTGC/TGATAG 1 A/V mis1 ese314Minor allele frequency- T:0.26EA NA EU WA 1232
    rs37965431,2
    C,F,H56916105(-) TCTCAA/GGTAAG 1 K/R mis112Minor allele frequency- G:0.17EA NA EU WA 2290
    rs15200301,2
    F,H56950381(+) TGTATG/CACTTT 1 -- ng31 tfbs39Minor allele frequency- C:0.20MN EU EA WA NA 964
    --
    rs50100121,2
    F,H56950337(+) CCAGAA/TTTTCA 1 -- ng314Minor allele frequency- T:0.20EU EA WA 382
    About this table

    HapMap Linkage Disequilibrium images for AASDH (up to first 250kb)

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

      --

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

      --

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

    9 PubMed articles for AASDH gene:
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 132949 HGNC: 23993 AceView: NRPS998 Ensembl:ENSG00000157426 euGenes: HUgn132949
    ECgene: AASDH H-InvDB: AASDH
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for AASDH:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
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      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for AASDH-related products

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


     Predesigned and custom siRNAs for AASDH Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for AASDH Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search OriGene for AASDH
     Search Tocris compounds for AASDH




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for AASDH

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