Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



AASDHPPT Gene

protein-coding   GIFtS: 61
GCID: GC11P105946

Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl
Transferase1 2
     LYS22
Alpha-Aminoadipic Semialdehyde Dehydrogenase-Phosphopantetheinyl
Transferase2 3
     LYS52
4'-Phosphopantetheinyl Transferase2 3     L-Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase2
AASD-PPT2 3     EC 2.7.8.-3
LYS5 Ortholog2 3     EC 2.7.88

External Ids:    HGNC: 142351   Entrez Gene: 604962   Ensembl: ENSG000001493137   OMIM: 6077565   UniProtKB: Q9NRN73   

Export aliases for AASDHPPT gene to outside databases

Previous GC identifers: GC11P108141 GC11P107304 GC11P105982 GC11P105486 GC11P105453 GC11P101879


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

TryGeneCards Plus

Entrez Gene summary for AASDHPPT Gene:
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, Jul 2008)

GeneCards Summary for AASDHPPT Gene:
AASDHPPT (aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase) is a protein-coding gene. Diseases associated with AASDHPPT include williams-beuren syndrome, and attention deficit hyperactivity disorder. GO annotations related to this gene include holo-[acyl-carrier-protein] synthase activity and magnesium ion binding.

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 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the AASDHPPT gene promoter:
         AhR   Nkx2-5   Arnt   POU2F1   POU2F1a   POU2F1b   POU2F1c   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAASDHPPT promoter sequence
   Search Chromatin IP Primers for AASDHPPT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AASDHPPT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
AASDHPPT gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P105946:  view genomic region     (about GC identifiers)

Start:
105,946,228 bp from pter      End:
105,969,437 bp from pter
Size:
23,210 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

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
Sequence caution: Sequence=AAD34075.1; Type=Frameshift; Positions=34, 63; Sequence=AAF86879.1; Type=Erroneous
initiation;
3 PDB 3D structures from and Proteopedia for AASDHPPT:
2BYD (3D)        2C43 (3D)        2CG5 (3D)    
Secondary accessions: B2R6D1 Q9C068 Q9P0Q3 Q9UG80 Q9Y389

Explore the universe of human proteins at neXtProt for AASDHPPT: NX_Q9NRN7

Explore proteomics data for AASDHPPT at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys164, Lys263
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AASDHPPT (Q9NRN7) (see all 5)
     FTILNFNDL  RSIQPEEKERIG  SHQGDYAVLAAEP  MEGVRWAFSCGTWLPS 


    See AASDHPPT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056238.2  
    ENSEMBL proteins: 
     ENSP00000437175   ENSP00000435099   ENSP00000278618   ENSP00000437144  
    Reactome Protein details: Q9NRN7

    AASDHPPT Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for AASDHPPT
    OriGene Protein Over-expression Lysate for AASDHPPT
    OriGene MassSpec for AASDHPPT
    OriGene Custom Protein Services for AASDHPPT
    GenScript Custom Purified and Recombinant Proteins Services for AASDHPPT
    Novus Biologicals AASDHPPT Proteins
    Novus Biologicals AASDHPPT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for AASDHPPT
    Cloud-Clone Corp. Proteins for AASDHPPT

    AASDHPPT Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for AASDHPPT
    OriGene Custom Antibody Services for AASDHPPT
    Novus Biologicals AASDHPPT Antibodies
    Abcam antibodies for AASDHPPT
    Cloud-Clone Corp. Antibodies for AASDHPPT
    ThermoFisher Antibody for AASDHPPT
    LSBio Antibodies in human, mouse, rat for AASDHPPT

    AASDHPPT Assay Products:

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


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

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR008278 4-PPantetheinyl_Trfase_SF

    Graphical View of Domain Structure for InterPro Entry Q9NRN7

    ProtoNet protein and cluster: Q9NRN7

    1 Blocks protein domain: IPB008278 4'-phosphopantetheinyl transferase

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


    AASDHPPT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Numbers (IUBMB): EC 2.7.82 EC 2.7.8.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA18022563
    GO:0005515protein binding IPI18022563
    GO:0008897holo-[acyl-carrier-protein] synthase activity IDA18022563
         
    AASDHPPT for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AASDHPPT:
     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AASDHPPT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AASDHPPT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AASDHPPT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AASDHPPT

    miRNA
    Products:
        
    miRTarBase miRNAs that target AASDHPPT:
    hsa-mir-192-5p (MIRT026270), hsa-mir-215-5p (MIRT024906), hsa-mir-98-5p (MIRT027472), hsa-mir-132-3p (MIRT021758)

    Block miRNA regulation of human, mouse, rat AASDHPPT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AASDHPPT (see all 14):
    hsa-miR-3163 hsa-miR-579 hsa-miR-16-2* hsa-miR-3146 hsa-miR-3617 hsa-miR-4282 hsa-miR-33a* hsa-miR-641
    SwitchGear 3'UTR luciferase reporter plasmidAASDHPPT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AASDHPPT
    Predesigned siRNA for gene silencing in human, mouse, rat AASDHPPT

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AASDHPPT

    Clone
    Products:
         
    OriGene clones in human, mouse for AASDHPPT (see all 7)
    OriGene ORF clones in mouse, rat for AASDHPPT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AASDHPPT (NM_015423)
    Sino Biological Human cDNA Clone for AASDHPPT
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AASDHPPT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AASDHPPT

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AASDHPPT
    Browse ESI BIO Cell Lines and PureStem Progenitors for AASDHPPT 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASDHPPT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ADPPT_HUMAN, Q9NRN7: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion3
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    AASDHPPT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for AASDHPPT About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Metabolism
    Metabolism0.38
    3Pantothenate and CoA biosynthesis
    Pantothenate and CoA biosynthesis
    4Disease
    Disease
    5acyl carrier protein metabolism
    acyl carrier protein metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for AASDHPPT
        acyl carrier protein metabolism


    1 Reactome Pathway for AASDHPPT
        Vitamin B5 (pantothenate) metabolism


    1 Kegg Pathway  (Kegg details for AASDHPPT):
        Pantothenate and CoA biosynthesis


    AASDHPPT for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including AASDHPPT: 
              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AASDHPPT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for AASDHPPT (Q9NRN72, 3 ENSP000002786184) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDFIQ997502, 3, ENSP000002303214MINT-66116 I2D: score=5 STRING: ENSP00000230321
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    USP22Q9UPT93, ENSP000002614974I2D: score=2 STRING: ENSP00000261497
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process ----
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0009059macromolecule biosynthetic process IEA--
    GO:0015939pantothenate metabolic process TAS--

    AASDHPPT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for AASDHPPT (ADPPT)

    Selected HMDB Compounds for AASDHPPT (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Aminoadipic acid(+/-)-2-Aminoadipate (see all 24)542-32-5--
    L-2-Aminoadipate adenylate5-Adenylyl-2-aminoadipate (see all 2)----
    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--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for AASDHPPT gene: 
    NM_015423.2  

    Unigene Cluster for AASDHPPT:

    Aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
    Hs.524009  [show with all ESTs]
    Unigene Representative Sequence: BX537665
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533423 ENST00000524411 ENST00000278618(uc001pjc.1 uc010rvn.1 uc001pjd.1)
    ENST00000525660 ENST00000534152
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AASDHPPT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AASDHPPT (see all 14):
    hsa-miR-3163 hsa-miR-579 hsa-miR-16-2* hsa-miR-3146 hsa-miR-3617 hsa-miR-4282 hsa-miR-33a* hsa-miR-641
    SwitchGear 3'UTR luciferase reporter plasmidAASDHPPT 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AASDHPPT
    Predesigned siRNA for gene silencing in human, mouse, rat AASDHPPT
    Clone
    Products:
         
    OriGene clones in human, mouse for AASDHPPT (see all 7)
    OriGene ORF clones in mouse, rat for AASDHPPT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AASDHPPT (NM_015423)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AASDHPPT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AASDHPPT
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for AASDHPPT
    OriGene qSTAR qPCR primer pairs in human, mouse for AASDHPPT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AASDHPPT
      QuantiTect SYBR Green Assays in human, mouse, rat AASDHPPT
      QuantiFast Probe-based Assays in human, mouse, rat AASDHPPT

    Additional mRNA sequence: 

    AB072896.1 AF132199.2 AF136978.1 AF151057.1 AF151838.1 AF201943.1 AF302110.1 AK293362.1 
    AK312529.1 AL050073.1 BC015470.1 BC016728.1 BX537665.1 

    12 DOTS entries:

    DT.210486  DT.443939  DT.100813776  DT.75121367  DT.95256209  DT.120714362  DT.120714436  DT.120714437 
    DT.95256203  DT.120714374  DT.95256198  DT.101972846 

    Selected AceView cDNA sequences (see all 314):

    CD368341 AA280274 BX104992 BC015470 BM801324 BQ574421 BC016728 BM676420 
    AI341281 BQ023818 AA559005 CR597963 AW069092 CB159886 AW296438 BG677558 
    BP369218 AI432345 BU664536 BQ639444 AI128641 AA993754 AI564350 BE218728 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for AASDHPPT

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    AASDHPPT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTGTAATGG
    AASDHPPT Expression
    About this image


    AASDHPPT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Brain (Nervous System)
             Cerebral Cortex
    AASDHPPT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AASDHPPT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524009

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

        Pathway & Disease-focused RT2 Profiler PCR Array including AASDHPPT: 
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for AASDHPPT
    OriGene qSTAR qPCR primer pairs in human, mouse for AASDHPPT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AASDHPPT
    QuantiTect SYBR Green Assays in human, mouse, rat AASDHPPT
    QuantiFast Probe-based Assays in human, mouse, rat AASDHPPT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASDHPPT

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AASDHPPT gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aasdhppt1 , 5 aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl more1, 5 87.49(n)1
    90.94(a)1
      9 (2.46 cM)5
    676181  NM_026276.31  NP_080552.31 
     42947935 
    chicken
    (Gallus gallus)
    Aves AASDHPPT1 aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl more 70.65(n)
    63.82(a)
      418975  NM_001278088.1  NP_001265017.1 
    lizard
    (Anolis carolinensis)
    Reptilia AASDHPPT6
    aminoadipate-semialdehyde dehydrogenase-phosphopan...
    62(a)
    1 ↔ 1
    3(190312527-190339315)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.84862 Xenopus laevis transcribed sequence with weak similarity more 75.87(n)    CD255218.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aasdhppt1 aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl more 59.14(n)
    60.07(a)
      619247  NM_001033729.1  NP_001028901.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta eap1 ebony activating protein 50.09(n)
    40.74(a)
      317852  NM_168492.2  NP_729788.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T04G9.41 T04G9.4 46.09(n)
    36.36(a)
      180425  NM_075752.6  NP_508153.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g01365001 Os11g0136500 47.35(n)
    41.59(a)
      4349713  NM_001072222.1  NP_001065690.1 


    ENSEMBL Gene Tree for AASDHPPT (if available)
    TreeFam Gene Tree for AASDHPPT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for AASDHPPT (see all 324)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1435068661,2
    --105950473(+) GTTCTA/GTTGCT 1 -- int10--------
    rs2012994781,2
    C--105950625(+) GATTA-/TCCGTT 1 -- int10--------
    rs1900677711,2
    --105950664(+) TAAAGG/TGAAAT 1 -- int10--------
    rs96516741,2
    C,F,A,H--105950671(+) AAATAT/CTAAGT 1 -- int19Minor allele frequency- C:0.29NS EA WA CSA 641
    rs1480002371,2
    C--105950702(+) CTTCAA/GTTTAT 1 -- int10--------
    rs1434484761,2
    C--105950727(+) AACCAC/GAATTT 1 -- int10--------
    rs79287901,2
    C,F,H--105950806(+) ATAACA/GTATAC 1 -- int136Minor allele frequency- G:0.12NS EA NA WA CSA 2567
    rs1162013871,2
    F--105950920(+) AACGTG/ATATCA 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1471367931,2
    C--105951005(+) GCATGC/TGCAGA 1 -- int10--------
    rs1406546121,2
    --105951020(+) GGTATC/TTGAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for AASDHPPT (105946228 - 105969437 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for AASDHPPT: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AASDHPPT
    DNA2.0 Custom Variant and Variant Library Synthesis for AASDHPPT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 607756    OMIM disorders: --

    8 diseases for AASDHPPT:    
    About MalaCards
    williams-beuren syndrome    attention deficit hyperactivity disorder    tonsillitis    malaria
    cerebritis    thyroiditis    prostatitis    endotheliitis


    AASDHPPT for disorders           About GeneDecksing

    Genetic Association Database (GAD): AASDHPPT

    Export disorders for AASDHPPT 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

    TryGeneCards Plus

    PubMed articles for AASDHPPT gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with AASDHPPT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the alpha-aminoadipic semialdehyde dehydrogenase- phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene. (PubMed id 11286508)1, 2, 3, 9 Praphanphoj V....Geraghty M.T. (Mol. Genet. Metab. 2001)
    2. Cloning, expression, and characterization of a human 4'- phosphopantetheinyl transferase with broad substrate specificity. (PubMed id 12815048)1, 2, 3 Joshi A.K.... Smith S. (J. Biol. Chem. 2003)
    3. Mechanism and substrate recognition of human holo ACP synthase. (PubMed id 18022563)1, 2 Bunkoczi G....Oppermann U. (Chem. Biol. 2007)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    6. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    7. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.-H.... Lin W.-C. (Genome Res. 2000)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 60496 HGNC: 14235 AceView: AASDHPPT Ensembl:ENSG00000149313 euGenes: HUgn60496
    ECgene: AASDHPPT Kegg: 60496 H-InvDB: AASDHPPT

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for AASDHPPT Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for AASDHPPT gene:
    Search GeneIP for patents involving AASDHPPT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for AASDHPPT   OriGene RNAi products in human, mouse, rat for AASDHPPT  
     OriGene qPCR primer pairs and template standards for AASDHPPT   OriGene Protein Over-expression Lysate for AASDHPPT  
     OriGene MassSpec something-or-other for AASDHPPT   OriGene clones in human, mouse for AASDHPPT  
     OriGene qSTAR qPCR primer pairs in human, mouse for AASDHPPT   OriGene Purified Protein for AASDHPPT  
     OriGene ORF clones in mouse, rat for AASDHPPT   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for AASDHPPT   OriGene Custom Protein Services for AASDHPPT  

     
     
     Block miRNA regulation of human, mouse, rat AASDHPPT using miScript Target Protectors SeqTarget long-range PCR primers for resequencing AASDHPPT
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AASDHPPT Predesigned siRNA for gene silencing in human, mouse, rat AASDHPPT
     QuantiFast Probe-based Assays in human, mouse, rat AASDHPPT QuantiTect SYBR Green Assays in human, mouse, rat AASDHPPT
     PCR Arrays including human, mouse, rat AASDHPPT Search Chromatin IP Primers for AASDHPPT
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AASDHPPT  Search GeneGlobe Interaction Network for AASDHPPT
     Regulatory tfbs in AASDHPPT promoter
     GenScript Custom Purified and Recombinant Proteins Services for AASDHPPT GenScript cDNA clones with any tag delivered in your preferred vector for AASDHPPT
     GenScript Custom Assay Services for AASDHPPT GenScript Custom overexpressing Cell Line Services for AASDHPPT
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for AASDHPPT (ADPPT)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for AASDHPPT
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     AASDHPPT antibodies
     AASDHPPT proteins
     AASDHPPT lysates
     Antibodies for AASDHPPT
     See all of Abcam's Antibodies, Kits and Proteins for AASDHPPT
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for AASDHPPT
     Proteins for AASDHPPT
     Antibodies for AASDHPPT
     ELISAs for AASDHPPT
     CLIAs for AASDHPPT



     Browse ESI BIO Cell Lines and PureStem Progenitors for AASDHPPT
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASDHPPT
     SwitchGear 3'UTR luciferase reporter plasmids for AASDHPPT
     SwitchGear Promoter luciferase reporter plasmids for AASDHPPT
     ThermoFisher Antibody for AASDHPPT
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AASDHPPT
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AASDHPPT
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AASDHPPT
     LSBio Antibodies in human, mouse, rat for AASDHPPT
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

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


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

    Hot genes      Disease genes      AASDHPPT gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4