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

AASDHPPT Gene

protein-coding   GIFtS: 60
GCID: GC11P105982

Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl...

  See related disease
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

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 GC11P105486 GC11P105453 GC11P101879


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

Entrez Gene summary for 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 among its related super-pathways are Vitamin B5 (pantothenate) metabolism and Metabolism of water-soluble vitamins and cofactors. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AASDHPPT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC11P105982:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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; 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NRN7

  • 4/5 DME Specific Peptides for AASDHPPT (Q9NRN7) (see all 5)
     FTILNFNDL  RSIQPEEKERIG  SHQGDYAVLAAEP  MEGVRWAFSCGTWLPS 

    AASDHPPT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AASDHPPT Protein Expression
    REFSEQ proteins: NP_056238.2  
    ENSEMBL proteins: 
     ENSP00000437175   ENSP00000435099   ENSP00000278618   ENSP00000437144  
    Reactome Protein details: Q9NRN7
    Human Recombinant Protein Products for AASDHPPT: 
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    Cloud-Clone Corp. Proteins for AASDHPPT 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    AASDHPPT for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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:
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    SwitchGear 3'UTR luciferase reporter plasmidAASDHPPT 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AASDHPPT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Coenzyme A biosynthesis
    Vitamin B5 (pantothenate) metabolism0.73
    Pantothenate and CoA biosynthesis0.40
    2Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    3Metabolism
    Metabolism0.40
    4acyl carrier protein metabolism
    acyl carrier protein metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for AASDHPPT
        acyl carrier protein metabolism

    4        Reactome Pathways for AASDHPPT
        Metabolism
    Metabolism of vitamins and cofactors
    Vitamin B5 (pantothenate) metabolism
    Metabolism of water-soluble vitamins and cofactors


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


    AASDHPPT for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AASDHPPT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/17 Interacting proteins for AASDHPPT (Q9NRN72, 3 ENSP000002786184) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    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): 5/6 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AASDHPPT (ADPPT)

    10/11 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--

    Search CenterWatch for drugs/clinical trials and news about AASDHPPT / ADPPT

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

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

    BC015470 BE218728 AA361640 BX104992 BQ574421 F13245 BI713119 CB148112 
    AA301268 AI312807 AA912922 CB159886 AW296438 BG677558 BP369218 AI432345 
    BU664536 BQ639444 AI128641 AA993754 BQ023818 AL548924 NM_015423 BQ921672 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AASDHPPT expression in normal human tissues (normalized intensities)      AASDHPPT embryonic expression: see
    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 
     5/19 selected tissues (see all 19) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; squamous epithelial cells   
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             lymph node ; non-germinal center cells   

    See AASDHPPT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AASDHPPT

    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

        SABiosciences Expression via Pathway-Focused PCR Array including AASDHPPT: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AASDHPPT gene from 8/17 species (see all 17)    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  XM_417169.3  XP_417169.2 
    lizard
    (Anolis carolinensis)
    Reptilia AASDHPPT6
    Uncharacterized protein
    61(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 59.23(n)
    60.28(a)
      619247  NM_001033729.1  NP_001028901.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta eap1 ebony activating protein 47.95(n)
    37.28(a)
      317852  NM_168492.1  NP_729788.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T04G9.41 Protein T04G9.4 46.25(n)
    36.36(a)
      180425  NM_075752.5  NP_508153.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g01365001 hypothetical protein 47.23(n)
    41.7(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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/324 SNPs in AASDHPPT are shown (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: --
    SABiosciences Cancer Mutation 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
    OMIM gene information: 607756    OMIM disorders: --

    2 diseases for AASDHPPT:    About MalaCards
    williams-beuren syndrome    


    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

    PubMed articles for AASDHPPT gene, integrated from 9 sources (see all 31):
    (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. (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. (2003)
    3. Mechanism and substrate recognition of human holo ACP synthase. (PubMed id 18022563)1, 2 Bunkoczi G....Oppermann U. (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. (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. (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. (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. (2000)
    8. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    9. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    10. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 60496 HGNC: 14235 AceView: AASDHPPT Ensembl:ENSG00000149313 euGenes: HUgn60496
    ECgene: AASDHPPT Kegg: 60496 H-InvDB: AASDHPPT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AASDHPPT Pharmacogenomics, SNPs, Pathways

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



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