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AASDHPPT Gene

protein-coding   GIFtS: 57

GC11P105453
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
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
AASD-PPT 1, 2, 3
CGI-80 1, 2
DKFZp566E2346 2
EC 2.7.8.- 3
LYS2 2
LYS5 1, 2
Descriptions
4'-phosphopantetheinyl transferase 2, 3
Alpha-aminoadipic semialdehyde
dehydrogenase-phosphopantetheinyl transferase 2, 3
LYS5 ortholog 3
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl
transferase 2
External Ids
HGNC: 142351
Entrez Gene: 604962
UniProtKB: Q9NRN73
Ensembl: ENSG000001493137
Search outside databases for aliases for AASDHPPT gene

Previous GC identifers: GC11P108141 GC11P107304 GC11P105982 GC11P105486

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for AASDHPPT:
The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for
the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine.
Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to
alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic
acidemia. [provided by RefSeq]

UniProtKB/Swiss-Prot: ADPPT_HUMAN, Q9NRN7
Function: Catalyzes the post-translational modification of target proteins by phosphopantetheine.
Can transfer the 4'-phosphopantetheine moiety from coenzyme A to a serine residue of a broad range
of acceptors, such as the acyl carrier domain of FASN

Gene Wiki entry for AASDHPPT

(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)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AASDHPPT gene  

Entrez Gene cytogenetic band: 11q22   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q22

AASDHPPT 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 11         GeneLoc Exon Structure

GeneLoc location for GC11P105453:     (about GC identifiers)

Start:
105,453,502 bp from pter
End:
105,474,629 bp from pter
Size:
21,128 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000011.8  NT_033899.7  
(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)
About This Section

UniProtKB/Swiss-Prot: ADPPT_HUMAN, Q9NRN7 (See protein sequence)
Recommended Name: L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase  
Size: 309 amino acids; 35776 Da
Cofactor: Binds 1 magnesium ion
Subunit: Monomer. Interacts with FASN
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAD34075.1; Type=Frameshift; Positions=34, 63;
PDB structures from and Proteopedia :
2BYD (3D)    2C43 (3D)    2CG5 (3D)    
Secondary accessions: B2R6D1 Q9C068 Q9P0Q3 Q9UG80 Q9Y389

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_056238.2  

    ENSEMBL proteins: 
    ENSP00000278618 


    Human Recombinant Proteins 
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    Browse Purified and Recombinant Proteins at Millipore
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (AASDHPPT)
    Human Recombinant Proteins from Abnova (AASDHPPT)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol EXP12815048
    About this table

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

    Assays for AASDHPPT: 
    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

    1 InterPro domain/family:
     IPR008278 4-PPantetheinyl_Trfase


       GeneDecks  AASDHPPT for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9NRN7

    ProtoNet protein and cluster: Q9NRN7

    1 Blocks protein family: IPB008278 4'-phosphopantetheinyl transferase

    UniProtKB/Swiss-Prot: ADPPT_HUMAN, Q9NRN7
    Similarity: Belongs to the P-Pant transferase superfamily. AcpS family

    (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 (AASDHPPT)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AASDHPPT)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015423

                  Applied Biosystems Silencer® siRNAs for AASDHPPT

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

    Clones:Invitrogen Clones for AASDHPPT
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_015423
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_015423
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_015423 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_015423

    UniProtKB/Swiss-Prot: ADPPT_HUMAN, Q9NRN7
    Function: Catalyzes the post-translational modification of target proteins by phosphopantetheine.
    Can transfer the 4'-phosphopantetheine moiety from coenzyme A to a serine residue of a broad range
    of acceptors, such as the acyl carrier domain of FASN
    Catalytic activity: CoA-[4'-phosphopantetheine] + apo-[acyl-carrier-protein] = adenosine
    3',5'-bisphosphate + holo-[acyl-carrier-protein]
    Biophysicochemical properties: Kinetic parameters: KM=0.44 mM for magnesium; KM=0.025 mM for
    coenzyme A;
    Enzyme Number (IUBMB): EC 2.7.8.- 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287 magnesium ion binding IEA--
    GO:0008897 holo-[acyl-carrier-protein] synthase activity IEA--
    GO:0016740 transferase activity IEA--
    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


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

       GeneDecks  AASDHPPT for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for AASDHPPT):
     hsa00300 Lysine biosynthesis
     hsa00310 Lysine degradation

       GeneDecks  AASDHPPT for the pathways selected above  
    About GeneDecksing

    5/7 Interacting proteins for AASDHPPT (ENSP000002786183 Q9NRN72) via UniProtKB, MINT, and/or STRING (see all 7 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDFIQ997502MINT-66116
    AASSENSP000003518343STRING (score=.976)
    AADATENSP000003368083STRING (score=.899)
    HAT1ENSP000002641083STRING (score=.877)
    ALDH7A1ENSP000002975423STRING (score=.702)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009059 macromolecule biosynthetic 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 AASDHPPT

    (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 (AASDHPPT)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AASDHPPT)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015423

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

    Applied Biosystems Silencer® siRNAs: 

    NM_015423  

    REFSEQ mRNAs for AASDHPPT gene: 

    NM_015423.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_015423  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_015423
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_015423
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_015423 

    Additional cDNA sequence: 

    AB072896.1 AF132199.1 AF136978.1 AF151057.1 AF151838.1 AF201943.1 AF302110.1 AK293362.1 
    AK312529.1 AL050073.1 BC015470.1 BC016728.1 BX537665.1 CR597963.1 

    11 DOTS entries:

    DT.210486  DT.443939  DT.100813776  DT.75121367  DT.95256209  DT.120714362  DT.120714436  DT.120714437 
    DT.95256203  DT.120714374  DT.95256198 

    24/314 AceView cDNA sequences (see all 314 ):

    AI128641 BQ639444 AA047479 CA314306 AA912922 BC015470 BM855032 CD368341 
    BM472367 BC016728 BM969865 BM676420 BQ050229 BM271727 AI341281 BQ023818 
    AA559005 F05018 AI564350 AW069092 AA301268 AL548924 AA024903 AI312807 

    highest scoring ESTs for AASDHPPT:

    AL050073 AA024904 AA044279 AA047479 AA047480 AA112331 AA130097 AA160936 AA193003 AA280274 

    Unigene Cluster for AASDHPPT:

    Aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
    Hs.524009  [show with all ESTs]
    Unigene Representative Sequence: BX537665


    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AASDHPPT

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
    SP1:                          -                                 
    SP2:                    -     -                                 
    SP3:                                                            

    About this scheme

    ECgene alternative splicing isoforms for AASDHPPT

    1 Ensembl transcript including schematic representation:
    ENST00000278618  
    (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

    AASDHPPT expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for AASDHPPT

    1 / 2 / 3

    5 probe-sets matching AASDHPPT gene


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

    35761_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AL050073 1.00 1.00 1.00 1

    202169_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF302110 0.80 1.00 0.91 1

    202170_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF151057 0.80 1.00 0.91 1

    202169_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    202170_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AGTGTAATGG

    SOURCE GeneReport for Unigene cluster: Hs.524009

    Expression variation in blood from EXPOLDB for AASDHPPT

    UniProtKB/Swiss-Prot: ADPPT_HUMAN, Q9NRN7
    Tissue specificity: Detected in heart, skeletal muscle, placenta, testis, brain, pancreas, liver
    and kidney

    (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 AASDHPPT gene from 5/12 species (see all 12 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    AASDHPPT1   -- aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl more 90.43(n)
    92.91(a)
    489426  XM_546544.2  XP_546544.2 
    chimpanzee
    (Pan troglodytes)
    AASDHPPT1   -- aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl more 99.78(n)
    100(a)
    451524  XM_508734.2  XP_508734.2 
    cow
    (Bos taurus)
    AASDHPPT1   -- aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl more 92.56(n)
    93.2(a)
    519816  XM_864079.2  XP_869172.1 
    rat
    (Rattus norvegicus)
    Aasdhppt1   -- aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl more 87.27(n)
    90.61(a)
    300328  XM_217078.3  XP_217078.3 
    mouse
    (Mus musculus)
    Aasdhppt1, 5 95
    aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl more1, 5 87.38(n)1
    90.61(a)1
    676181  NM_026276.21  NP_080552.21 
     AA9681015  AK0077375  (see all 27)
    About this table        Species with no ortholog for AASDHPPT

    ENSEMBL Gene Tree for AASDHPPT
    (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


    10/71 NCBI SNPs in AASDHPPT are shown (see all 71 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 61)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs112269201,2
    C,F,H105474912(+) ggcatT/Ggtttc 1 -- ng318Minor allele frequency- G:0.26EU EA WA 836
    rs75541,2
    C,F,H105474311(+) CAAAAA/GTCTAT 1 -- ut3113Minor allele frequency- G:0.22MN EU EA WA NA 1226
    rs19407551,2
    H105472971(+) TTTCCA/CATTAA 1 -- ut314Minor allele frequency- C:0.00EU EA WA 418
    rs112269191,2
    H105473421(+) acctaG/Tgaaat 1 -- ut314Minor allele frequency- T:0.00EU EA WA 402
    --
    rs115539481,2
    H105455522(+) GAATCC/ATTACC 1 H/P mis1 ese34Minor allele frequency- A:0.00EU EA WA 404
    --
    rs10486831,2
    A105474468(-) TAAAAA/TAAAAA 1 -- ut31 trp30--------
    rs21867311,2
    A,C,F,H,O105458735(+) CTTTTA/GGAAAA 1 -- int17Minor allele frequency- G:0.48EU EA WA NA 554
    rs21553421,2
    C,F,H,O105458408(+) GGCATC/TGTTAC 1 -- int111Minor allele frequency- T:0.08EU EA WA NA 980
    rs65911511,2
    A,C,F,H105463511(+) TTTGTA/GTATAC 1 -- int14Minor allele frequency- G:0.08EU EA WA 418
    rs44744071,2
    A,C,F,H105467132(+) AAAAGG/TTTATA 1 -- int14Minor allele frequency- T:0.26EU EA WA 418
    About this table

    HapMap Linkage Disequilibrium images for AASDHPPT (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

    OMIM: 607756

    (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

    10/15 PubMed articles for AASDHPPT gene (see all 15 ):
    (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: 60496 HGNC: 14235 AceView: AASDHPPT Ensembl:ENSG00000149313 euGenes: HUgn60496
    ECgene: AASDHPPT H-InvDB: AASDHPPT
    (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 AASDHPPT:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for AASDHPPT Antibodies for AASDHPPT
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for AASDHPPT Browse small molecules at Sigma-Aldrich
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