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

ATAT1 Gene

protein-coding   GIFtS: 43
GCID: GC06P030605

alpha tubulin acetyltransferase 1

(Previous name: chromosome 6 open reading frame 134 )
(Previous symbol: C6orf134)
 Explore 5 diseases affiliated with
ATAT1 via our new
 Human Malady Compendium 
Biological research products
for ATAT1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Alpha Tubulin Acetyltransferase 11 2     Chromosome 6 Open Reading Frame 1341
C6orf1341 2 3     Nbla004872
MEC171 2 3     Alpha-TAT3
Acetyltransferase Mec-17 Homolog2 3     Alpha-Tubulin N-Acetyltransferase2
TAT2 3     Alpha-TAT3
Em:AB023049.71     EC 2.3.1.1083
FLJ131581     

External Ids:    HGNC: 211861   Entrez Gene: 799692   Ensembl: ENSG000001373437   UniProtKB: Q5SQI03   

Export aliases for ATAT1 gene to outside databases

Previous GC identifers: GC06P030394 GC06P030596 GC06P030598


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

UniProtKB/Swiss-Prot: ATAT_HUMAN, Q5SQI0
Function: Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. May affect microtubule
stability and regulate microtubule dynamics. May be involved in neuron development




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ATAT1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATAT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATAT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATAT1


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

Entrez Gene cytogenetic band: 6p21.33   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.32

ATAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATAT1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P030605:  view genomic region     (about GC identifiers)

Start:
30,594,613 bp from pter      End:
30,614,600 bp from pter
Size:
19,988 bases      Orientation:
plus strand

6 alternative locations:
Chr6+,ALT_REF_LOCI_3 30,584,860-30,615,876      Chr6+,ALT_REF_LOCI_6 30,584,129-30,639,689      Chr6+,ALT_REF_LOCI_4 30,562,344-30,582,329     
Chr6+,ALT_REF_LOCI_5 30,587,892-30,607,879      Chr6+,ALT_REF_LOCI_2 30,584,468-30,643,633      Chr6+,ALT_REF_LOCI_7 30,516,357-30,536,343     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATAT_HUMAN, Q5SQI0 (See protein sequence)
Recommended Name: Alpha-tubulin N-acetyltransferase  
Size: 421 amino acids; 46810 Da
3 PDB 3D structures from and Proteopedia for ATAT1:
4B5O (3D)        4B5P (3D)        4GS4 (3D)    
Secondary accessions: A2AB28 Q3LIB0 Q5JP39 Q5JP40 Q5JP42 Q5SQI1 Q5SU03 Q86X42 Q8NDK9 Q9BRS1 Q9H8X5
Alternative splicing: 7 isoforms:  Q5SQI0-1   Q5SQI0-2   Q5SQI0-3   Q5SQI0-4   Q5SQI0-5   Q5SQI0-6   Q5SQI0-7   

Explore the universe of human proteins at neXtProt for ATAT1: NX_Q5SQI0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5SQI0

  • ATAT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001026892.1  NP_001241881.1  NP_079185.2  

    ENSEMBL proteins: 
     ENSP00000324222   ENSP00000365668   ENSP00000324459   ENSP00000365666   ENSP00000332374  
     ENSP00000327832   ENSP00000365661  

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    Uscn Proteins for ATAT1


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

    ATAT1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR007965 Touch_recpt_neuron_Mec-17
     IPR016181 Acyl_CoA_acyltransferase

    Graphical View of Domain Structure for InterPro Entry Q5SQI0

    ProtoNet protein and cluster: Q5SQI0

    UniProtKB/Swiss-Prot: ATAT_HUMAN, Q5SQI0
    Similarity: Belongs to the acetyltransferase ATAT1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ATAT_HUMAN, Q5SQI0
    Function: Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. May affect microtubule
    stability and regulate microtubule dynamics. May be involved in neuron development
    Catalytic activity: Acetyl-CoA + [alpha-tubulin]-L-lysine = CoA + [alpha-tubulin]-N(6)-acetyl-L-lysine

    Enzyme Number (IUBMB): EC 2.3.1.1081

    miRNA
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    miRTarBase miRNAs that target ATAT1:
    hsa-mir-23a (MIRT004517)

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    hsa-miR-200a hsa-miR-1271 hsa-miR-342-3p hsa-miR-3190 hsa-miR-218 hsa-miR-141 hsa-miR-96 hsa-miR-103a-2*
    SwitchGear 3'UTR luciferase reporter plasmidATAT1 3' UTR sequence
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019799tubulin N-acetyltransferase activity IMP--


    ATAT1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATAT1

    1 Interacting protein for ATAT1 (Q5SQI03) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622583I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 ATAT1
    Search CenterWatch for drugs/clinical trials and news about ATAT1 / ATAT 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATAT1 gene (4 alternative transcripts): 
    NM_001190724.1  NM_001031722.2  NM_001254952.1  NM_024909.2  

    Unigene Cluster for ATAT1:

    Alpha tubulin acetyltransferase 1
    Hs.654798  [show with all ESTs]
    Unigene Representative Sequence: BC006105
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000318999(uc003nqs.4 uc003rdd.3 uc011dmm.2) ENST00000376485
    ENST00000319027 ENST00000376483(uc003nqr.4 uc003rdc.3) ENST00000329992
    ENST00000330083(uc003nqv.3) ENST00000468713 ENST00000493388 ENST00000471782
    ENST00000462304 ENST00000479562 ENST00000466263 ENST00000376478

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    hsa-miR-200a hsa-miR-1271 hsa-miR-342-3p hsa-miR-3190 hsa-miR-218 hsa-miR-141 hsa-miR-96 hsa-miR-103a-2*
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    Additional cDNA sequence: 

    AB075512.1 AK023220.1 AK225107.1 AK297661.1 AK298743.1 AL833858.1 BC006105.1 BC025755.1 
    BC047303.1 

    18 DOTS entries:

    DT.413615  DT.100821031  DT.121360192  DT.100821034  DT.40130931  DT.95374643  DT.100787658  DT.121360325 
    DT.100821035  DT.121360110  DT.100821037  DT.306663  DT.100845051  DT.121360210  DT.91840920  DT.100821038 
    DT.95374644  DT.100771415 

    24/191 AceView cDNA sequences (see all 191):

    BM985296 BX464159 BX439859 H20251 AA604661 CF272491 CR599754 AL833858 
    CR602660 BU153262 AI952644 AL535418 AI986243 BU623320 BX460016 AI025667 
    BC025755 CB152020 CA450519 AI815446 Z38159 CB153544 CR594590 AA443996 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ATAT1    About this scheme

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


    ECgene alternative splicing isoforms for ATAT1

    (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

    ATAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCAGAGTAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ATAT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATAT1

    SOURCE GeneReport for Unigene cluster: Hs.654798
        SABiosciences Custom PCR Arrays for ATAT1
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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 animals.

    Orthologs for ATAT1 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atat11 , 5 alpha tubulin acetyltransferase 11, 5 84.98(n)1
    87.09(a)1
      17 (18.75 cM)5
    732421  NM_001142744.11  NP_001136216.11 
     358975955 
    lizard
    (Anolis carolinensis)
    Reptilia ATAT16
    --
    60(a)
    1 ↔ 1
    2(192063233-192078859)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.114682 Xenopus laevis transcribed sequence with weak similarity more 75.27(n)    CA972860.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj19c032 Danio rerio cDNA clone MGC65893 IMAGE6801405, complete more 70.21(n)    BC056749.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170036
    CG39676
    --
    30(a)
    20(a)
    many → 1
    many → 1
    X(19895000-19896129)
    3L(9406696-9419777)
    worm
    (Caenorhabditis elegans)
    Secernentea mec-176
    atat-26
    Alpha-tubulin N-acetyltransferase 2
    25(a)
    24(a)
    many → 1
    many → 1
    IV(7983850-7987171)
    X(5849069-5851936)


    ENSEMBL Gene Tree for ATAT1 (if available)
    TreeFam Gene Tree for ATAT1 (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, UniProtKB, 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

    10/266 NCBI SNPs in ATAT1 are shown (see all 266    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1387757021,2
    C,F,--30594703(+) GGAGCG/AGATCA 5 /Q /R mis1 ut511Minor allele frequency- A:0.00NA 4048
    rs1846142481,2
    --30594779(+) CAGCTC/GAAACC 3 -- int1 ut510--------
    rs38149591,2
    C,F,H,--30594827(-) GCCTGG/AACCAG 3 -- int1 ut5111Minor allele frequency- A:0.02NS EA WA 1896
    rs1467365081,2
    --30595207(+) GAGTAC/TCTGAC 3 -- int10--------
    rs561982591,2
    C--30595268(+) CCATTA/GTAGAT 6 I V mis10--------
    rs1883232761,2
    --30595436(+) CCTATC/TACTAG 6 I syn10--------
    rs1402739291,2
    --30595525(+) TCTTCC/TATCCC 3 -- int10--------
    rs92621251,2
    C,H--30595618(+) TTCCCC/TGTCCT 3 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1393170481,2
    C--30595648(+) CATTAT/CTGGTT 6 /T /I mis11Minor allele frequency- C:0.00NA 4536
    rs1442531751,2
    C,F--30595658(+) TTCATC/GAAAGT 6 I M mis11Minor allele frequency- G:0.00NA 4530

    HapMap Linkage Disequilibrium report for ATAT1 (30594613 - 30614600 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATAT1: --

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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.)
    About This Section

    ATAT1 for disorders           About GeneDecksing

    5 diseases for ATAT1:    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    neuroblastoma    malaria
    neuronitis


    Export disorders for ATAT1 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 ATAT1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with ATAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MEC-17 is an alpha-tubulin acetyltransferase. (PubMed id 20829795)1, 2, 3 Akella J.S.... Gaertig J. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Structure of the a-tubulin acetyltransferase, aTAT1, a nd implications for tubulin-specific acetylation. (PubMed id 23071314)1 Friedmann D.R....Marmorstein R. (2012)
    4. Atomic resolution structure of human a-tubulin acetylt ransferase bound to acetyl-CoA. (PubMed id 23071318)1 Taschner M....Lorentzen E. (2012)
    5. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    6. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1 Barcellos L.F....Criswell L.A. (2009)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79969 HGNC: 21186 AceView: C6orf134 Ensembl:ENSG00000137343 euGenes: HUgn79969
    ECgene: ATAT1 H-InvDB: ATAT1

    (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 ATAT1 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 ATAT1 gene:
    Search GeneIP for patents involving ATAT1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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