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COASY Gene

protein-coding   GIFtS: 63
GCID: GC17P040714

CoA Synthase

(Previous name: Coenzyme A synthase)
  See COASY-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)
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Aliases
CoA Synthase1 2 3     Bifunctional Coenzyme A Synthase2
NBP2 3     Bifunctional Phosphopantetheine Adenylyl Transferase/Dephospho CoA Kinase2
NBIA62 5     Nucleotide Binding Protein2
Coenzyme A Synthase1     pOV-22
DPCK2     Phosphopantetheine Adenylyltransferase / Dephosphocoenzyme A Kinase2
PPAT2     POV-23
UKR12     

External Ids:    HGNC: 299321   Entrez Gene: 803472   Ensembl: ENSG000000681207   OMIM: 6098555   UniProtKB: Q130573   

Export aliases for COASY gene to outside databases

Previous GC identifers: GC17P041088 GC17P037967 GC17P036478


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COASY Gene:
Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in
prokaryotes and eukaryotes. COASY is a bifunctional enzyme that catalyzes the 2 last steps in CoA synthesis.
These activities are performed by 2 separate enzymes, phosphopantetheine adenylyltransferase (PPAT; EC 2.7.7.3)
and dephospho-CoA kinase (DPCK; EC 2.7.1.24), in prokaryotes (Daugherty et al., 2002 (PubMed 11923312)).(supplied
by OMIM, Mar 2008)

GeneCards Summary for COASY Gene:
COASY (CoA synthase) is a protein-coding gene. Diseases associated with COASY include neurodegeneration with brain iron accumulation 6. GO annotations related to this gene include pantetheine-phosphate adenylyltransferase activity and dephospho-CoA kinase activity.

UniProtKB/Swiss-Prot: COASY_HUMAN, Q13057
Function: Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway.
The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the
fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA
biosynthesis regulation

Gene Wiki entry for COASY 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COASY gene promoter:
         Egr-3   PPAR-gamma1   Pax-6   Pax-2a   PPAR-gamma2   C/EBPalpha   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOASY promoter sequence
   Search Chromatin IP Primers for COASY

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


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

Entrez Gene cytogenetic band: 17q12-q21   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q12-q21

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P040714:  view genomic region     (about GC identifiers)

Start:
40,713,485 bp from pter      End:
40,718,295 bp from pter
Size:
4,811 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COASY_HUMAN, Q13057 (See protein sequence)
Recommended Name: Bifunctional coenzyme A synthase  
Size: 564 amino acids; 62329 Da
Subunit: Monomer
Sequence caution: Sequence=AAA69699.1; Type=Frameshift; Positions=535; Sequence=AAF87955.1; Type=Erroneous
initiation; Sequence=AAH06354.1; Type=Erroneous initiation; Sequence=AAH20985.1; Type=Erroneous initiation;
Sequence=AK075415; Type=Frameshift; Positions=315;
Secondary accessions: B2RA78 B4DLU0 Q6GS23 Q8NBM7 Q8NEW1 Q8WXD4 Q9NRM3
Alternative splicing: 2 isoforms:  Q13057-1   Q13057-2   

Explore the universe of human proteins at neXtProt for COASY: NX_Q13057

Explore proteomics data for COASY at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys235, Lys554
  • Modification sites at PhosphoSitePlus

  • See COASY Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001035994.1  NP_001035997.2  NP_079509.5  

    ENSEMBL proteins: 
     ENSP00000467174   ENSP00000467519   ENSP00000466838   ENSP00000393564   ENSP00000467687  
     ENSP00000468755   ENSP00000468583   ENSP00000467322   ENSP00000464814   ENSP00000377406  
     ENSP00000413338   ENSP00000407740  
    Reactome Protein details: Q13057

    COASY Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins for COASY
    OriGene Protein Over-expression Lysate for COASY
    OriGene MassSpec for COASY
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    GenScript Custom Purified and Recombinant Proteins Services for COASY
    Novus Biologicals COASY Proteins
    Novus Biologicals COASY Lysates
    Sino Biological Recombinant Protein for COASY
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COASY

     
    Search eBioscience for Proteins for COASY 

    COASY Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for COASY

    COASY Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for COASY
    Cloud-Clone Corp. CLIAs for COASY
    Search eBioscience for ELISAs for COASY 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR004821 Cyt_trans-like
     IPR001977 Depp_CoAkinase
     IPR027417 P-loop_NTPase
     IPR014729 Rossmann-like_a/b/a_fold

    Graphical View of Domain Structure for InterPro Entry Q13057

    ProtoNet protein and cluster: Q13057

    2 Blocks protein domains:
    IPB001977 Dephospho-CoA kinase
    IPB004820 Cytidylyltransferase


    UniProtKB/Swiss-Prot: COASY_HUMAN, Q13057
    Similarity: In the central section; belongs to the eukaryotic CoaD family
    Similarity: Contains 1 DPCK (dephospho-CoA kinase) domain


    Find genes that share domains with COASY           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COASY_HUMAN, Q13057
    Function: Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway.
    The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the
    fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA
    biosynthesis regulation
    Catalytic activity: ATP + pantetheine 4'-phosphate = diphosphate + 3'-dephospho-CoA
    Catalytic activity: ATP + 3'-dephospho-CoA = ADP + CoA
    Biophysicochemical properties: Kinetic parameters: KM=7.6 mM for 4'-phoshopantetheine; KM=145 mM for ATP (in the
    PPAT reaction); KM=16.7 mM for dephospho-CoA; KM=34.4 mM for ATP (in the DPCK reaction);

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004140dephospho-CoA kinase activity IDA11923312
    GO:0004595pantetheine-phosphate adenylyltransferase activity IDA11923312
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with COASY           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for COASY:
     Decreased CYP1A1 activity afte  Decreased Hepatitis C virus re 

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target COASY:
    hsa-mir-26a-5p (MIRT050109), hsa-mir-331-3p (MIRT043324), hsa-mir-26b-5p (MIRT030060), hsa-mir-760 (MIRT036719)

    Block miRNA regulation of human, mouse, rat COASY using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate COASY:
    hsa-miR-3926
    SwitchGear 3'UTR luciferase reporter plasmidCOASY 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COASY
    Predesigned siRNA for gene silencing in human, mouse, rat COASY

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

    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): COASY (NM_001042529)
    Sino Biological Human cDNA Clone for COASY
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COASY
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COASY
    Addgene plasmids for COASY 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COASY


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COASY_HUMAN, Q13057: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion4
    nucleus4
    peroxisome2
    endoplasmic reticulum1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005741mitochondrial outer membrane TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with COASY           About GenesLikeMe


    (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).
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    SuperPaths for COASY About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defects in cobalamin (B12) metabolism1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in vitamin and cofactor metabolism1.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Pantothenate and CoA biosynthesis
    Pantothenate and CoA biosynthesis
    4Disease
    Disease


    Find genes that share SuperPaths with COASY           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for COASY
        AMPK Enzyme Complex Pathway

    1 BioSystems Pathway for COASY
        coenzyme A biosynthesis


    1 Reactome Pathway for COASY
        Coenzyme A biosynthesis


    2 Kegg Pathways  (Kegg details for COASY):
        Pantothenate and CoA biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: COASY_HUMAN, Q13057
    Pathway: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 4/5
    Pathway: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 5/5

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COASY
    Interactions:

        GeneGlobe Interaction Network for COASY

    Selected Interacting proteins for COASY (Q130571, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPS6KB1P234432, 3MINT-51122 MINT-51123 MINT-51062 MINT-51063 I2D: score=4 
    EDC4Q6P2E91, 2EBI-745967,EBI-1006038 MINT-8392060 MINT-8392081 MINT-8392048
    KRT20P359002, 3MINT-66751 I2D: score=5 
    RPS6KB2Q9UBS02, 3MINT-51121 I2D: score=3 
    C12orf4Q9NQ893I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0009058biosynthetic process ----
    GO:0009108coenzyme biosynthetic process TAS--
    GO:0015937coenzyme A biosynthetic process TAS11994049

    Find genes that share ontologies with COASY           About GenesLikeMe



    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COASY

    7 HMDB Compounds for COASY    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Dephospho-CoA3'-O-dephosphono-Coenzyme A (see all 7)3633-59-8--
    Pantetheine 4'-phosphate4'-Phosphopantetheine (see all 8)2226-71-3--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    3 Novoseek inferred chemical compound relationships for COASY gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dephospho coa 97.2 9 17603993 (2), 19763791 (1), 12837781 (1), 14684928 (1) (see all 5)
    4'-phosphopantetheine 90.7 11 12837781 (3), 14684928 (3), 19763791 (1), 14514684 (1)
    phosphatidylcholine 38.2 1 14514684 (1)



    Find genes that share compounds with COASY           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COASY gene (5 alternative transcripts): 
    NM_001042530.1  NM_001042531.1  NM_001042529.2  NM_001042532.3  NM_025233.6  

    Unigene Cluster for COASY:

    CoA synthase
    Hs.296422  [show with all ESTs]
    Unigene Representative Sequence: NM_025233
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588757 ENST00000585811 ENST00000585909 ENST00000586771 ENST00000421097
    ENST00000591779 ENST00000587858 ENST00000587214 ENST00000587157 ENST00000590958
    ENST00000393818(uc002iad.3) ENST00000591753 ENST00000588353 ENST00000591583
    ENST00000420359(uc010cyj.3 uc002hzz.3 uc002iac.3) ENST00000449624(uc002iab.3 uc002iae.3)

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate COASY:
    hsa-miR-3926
    SwitchGear 3'UTR luciferase reporter plasmidCOASY 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for COASY
    Predesigned siRNA for gene silencing in human, mouse, rat COASY
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): COASY (NM_001042529)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COASY
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COASY
    Addgene plasmids for COASY 
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    OriGene qPCR primer pairs and template standards for COASY
    OriGene qSTAR qPCR primer pairs in human, mouse for COASY
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COASY
      QuantiTect SYBR Green Assays in human, mouse, rat COASY
      QuantiFast Probe-based Assays in human, mouse, rat COASY

    Additional mRNA sequence: 

    AF208536.1 AF453478.1 AK075415.1 AK092498.1 AK225485.1 AK297153.1 AK303766.1 AK314076.1 
    AL360167.1 AL360168.1 AL833588.1 AY094602.1 BC006354.1 BC020985.1 BC067254.1 BT007168.1 
    U18919.1 

    21 DOTS entries:

    DT.95291387  DT.316359  DT.100831029  DT.316358  DT.100831031  DT.91992863  DT.120973659  DT.75200326 
    DT.86859628  DT.97860125  DT.100831030  DT.101974666  DT.95291370  DT.100701320  DT.100831026  DT.120973609 
    DT.120973664  DT.75200328  DT.86857961  DT.100038371  DT.443498 

    Selected AceView cDNA sequences (see all 808):

    NM_198205 AL542480 BM694192 BM789014 BM781531 AL583142 AX747572 BM825430 
    BQ013840 BM666748 BG697372 BM835182 BU676002 BM755564 BM560518 AL134943 
    BE676231 AA836879 BM480288 CB156715 CR590342 AI826983 BM052761 AL360167 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COASY (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                    -     -                                                                                             
    SP2:                                                                                                                        
    SP3:                                                                                                                        
    SP4:                    -     -     -     -                                                                                 
    SP5:                    -                                                                                                   


    ECgene alternative splicing isoforms for COASY

    (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

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


    COASY 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
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Liver (Hepatobiliary System)
     
     Kidney (Urinary System)
    COASY Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COASY Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.296422

    UniProtKB/Swiss-Prot: COASY_HUMAN, Q13057
    Tissue specificity: Expressed in all tissues examined including brain, heart, skeletal muscle, colon, thymus,
    spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocyte. Lowest expression in
    peripheral blood leukocytes and highest in kidney and liver. Isoform 2 is expressed mainly in the brain

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for COASY gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coasy1 , 5 Coenzyme A synthase1, 5 85.54(n)1
    87.5(a)1
      11 (64.17 cM)5
    717431  NM_027896.41  NP_082172.21 
     1010825655 
    chicken
    (Gallus gallus)
    Aves COASY6
    CoA synthase
    59(a)
    1 ↔ 1
    27(4963812-4965610)
    lizard
    (Anolis carolinensis)
    Reptilia COASY6
    CoA synthase
    58(a)
    1 ↔ 1
    6(72932077-72951309)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia coasy1 CoA synthase 62.65(n)
    61.67(a)
      100490454  XM_002942271.2  XP_002942317.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.176972 Transcribed sequence with weak similarity to protein more 77.66(n)    CK027190.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ppat-Dpck1 Bifunctional Phosphopantetheine adenylyltransferase more 50.52(n)
    40.59(a)
      38647  NM_139728.2  NP_647985.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y65B4A.81 Y65B4A.8 47.39(n)
    39.46(a)
      171657  NM_058365.6  NP_490766.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAB46
    Probable pantetheine-phosphate adenylyltransferase...
    25(a)
    1 ↔ 1
    VII(1045644-1046561) YGR277C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons COAD1 COAD 48.03(n)
    38.16(a)
      816341  NM_127383.2  NP_179417.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g01794001 Os07g0179400 49.16(n)
    40.29(a)
      4342557  NM_001065570.1  NP_001059035.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COASY gene
    1 SIMAP similar gene for COASY using alignment to 8 protein entries:     COASY_HUMAN (see all proteins):
    DCAKD

    Find genes that share paralogs with COASY           About GenesLikeMe



    (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)
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    Selected SNPs for COASY (see all 175)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1837830741,2
    --36476762(+) TCTCTC/GCCTCC 3 -- us2k10--------
    rs1116836251,2
    C,F--40712127(+) GTAGCC/TGGAAT 3 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1866310051,2
    --40712183(+) AGAGAC/TGGGGT 3 -- us2k10--------
    rs1416687811,2
    --40712197(+) ACTATA/GTTGGC 3 -- us2k10--------
    rs1918316431,2
    --40712286(+) CACCGC/TGCCTG 3 -- us2k10--------
    rs1846298521,2
    --40712299(+) CATGTA/GTTATA 3 -- us2k10--------
    rs1470529521,2
    --40712333(+) CCTGTA/CTGCAA 3 -- us2k10--------
    rs1897506101,2
    C--40712345(+) CCCAAG/TACACA 3 -- us2k10--------
    rs169678621,2
    C,F,H--40712360(+) ACTCTA/GTACCC 3 -- us2k19Minor allele frequency- G:0.03NA NS EA WA 676
    rs1818527181,2
    C--40712396(+) TCACTG/TGTCCA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for COASY (40713485 - 40718295 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for COASY:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908255CNV Loss21882294
    dgv3172n71CNV Loss21882294
    nsv908249CNV Loss21882294
    esv33998OTHER Inversion15654335

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609855   
    OMIM disorders: 615643  
    1 disease for COASY:    
    About MalaCards
    neurodegeneration with brain iron accumulation 6


    Find genes that share disorders with COASY           About GenesLikeMe

    Genetic Association Database (GAD): COASY
    Human Genome Epidemiology (HuGE) Navigator: COASY (2 documents)

    Export disorders for COASY 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)
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    PubMed articles for COASY gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with COASY)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics. (PubMed id 11923312)1, 2, 3 Daugherty M.... Osterman A. (J. Biol. Chem. 2002)
    2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    3. Possible difference in frequencies of genetic polymorphisms of estrogen receptor alpha, estrogen metabolism and P53 genes between estrogen receptor-positive and -negative breast cancers. (PubMed id 18820009)1, 4 Hamaguchi M....Yamashita H. (Jpn. J. Clin. Oncol. 2008)
    4. Identification of a novel CoA synthase isoform, which is primarily expressed in the brain. (PubMed id 16460672)1, 2 Nemazanyy I....Gout I.T. (Biochem. Biophys. Res. Commun. 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. Identification and characterization of the gene encoding the human phosphopantetheine adenylyltransferase and dephospho-CoA kinase bifunctional enzyme (CoA synthase). (PubMed id 11994049)1, 2 Aghajanian S. and Worrall D.M. (Biochem. J. 2002)
    8. Molecular cloning of CoA Synthase. The missing link in CoA biosynthesis. (PubMed id 11980892)1, 3 Zhyvoloup A....Gout I.T. (J. Biol. Chem. 2002)
    9. A 100-kb physical and transcriptional map around the EDH17B2 gene: identification of three novel genes and a pseudogene of a human homologue of the rat PRL-1 tyrosine phosphatase. (PubMed id 8529999)1, 2 Montagna M.... Lenoir G.M. (Hum. Genet. 1995)
    10. Subcellular localization and regulation of coenzyme A synthase. (PubMed id 14514684)1, 9 Zhyvoloup A....Gout I.T. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 80347 HGNC: 29932 AceView: COASYandTCFL4 Ensembl:ENSG00000068120 euGenes: HUgn80347
    ECgene: COASY Kegg: 80347 H-InvDB: COASY

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for COASY Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COASY gene:
    Search GeneIP for patents involving COASY

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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