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

METAP1D Gene

protein-coding   GIFtS: 48
GCID: GC02P172865

methionyl aminopeptidase type 1D (mitochondrial)

 Explore 5 diseases affiliated with
METAP1D via our new
 Human Malady Compendium 
Biological research products
for METAP1D
    

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

Aliases
Methionyl Aminopeptidase Type 1D (Mitochondrial)1 2     EC 3.4.11.183 8
MAP1D1 2 3     CDS Of MetAP-3 Within PCR Fragment2
Metap1l1 2     Methionine Aminopeptidase 1D, Mitochondrial2
Methionyl Aminopeptidase Type 1D, Mitochondrial2 3     

External Ids:    HGNC: 325831   Entrez Gene: 2540422   Ensembl: ENSG000001728787   OMIM: 6102675   UniProtKB: Q6UB283   

Export aliases for METAP1D gene to outside databases

Previous GC identifer: GC02P164748


(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 METAP1D:
The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from
many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction
are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 (PubMed
14532271)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: AMP1D_HUMAN, Q6UB28
Function: Removes the N-terminal methionine from nascent proteins (By similarity). May play a role in colon
tumorigenesis




(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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for METAP1D
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMETAP1D promoter sequence
   Search SABiosciences Chromatin IP Primers for METAP1D

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat METAP1D


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

METAP1D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
METAP1D gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P172865:  view genomic region     (about GC identifiers)

Start:
172,864,490 bp from pter      End:
172,947,158 bp from pter
Size:
82,669 bases      Orientation:
plus strand

(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: AMP1D_HUMAN, Q6UB28 (See protein sequence)
Recommended Name: Methionine aminopeptidase 1D, mitochondrial precursor  
Size: 335 amino acids; 37088 Da
Cofactor: Binds 2 cobalt ions per subunit. The true nature of the physiological cofactor is under debate. The enzyme is
also active with zinc, manganese or divalent iron ions (By similarity)
Subcellular location: Mitochondrion
Caution: It is uncertain whether Met-1 or a Met upstream of this sequence is the initiator
Sequence caution: Sequence=AAY55948.1; Type=Erroneous initiation;
Secondary accessions: Q1WNX3

Explore the universe of human proteins at neXtProt for METAP1D: NX_Q6UB28

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6UB28

  • 4 DME Specific Peptides for METAP1D (Q6UB28)
     SAQFEHT  GDIINIDV  RPLQDGDI  FPKSVCTSVN 

    METAP1D Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_954697.1  
    ENSEMBL proteins: 
     ENSP00000315152  

    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for METAP1D

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA14532271


    METAP1D for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for METAP1D


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

    METAP1D for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000994 Pept_M24_structural-domain
     IPR002467 Pept_M24A_MAP1
     IPR001714 Pept_M24_MAP

    Graphical View of Domain Structure for InterPro Entry Q6UB28

    ProtoNet protein and cluster: Q6UB28

    2 Blocks protein families:
    IPB001714 Methionine aminopeptidase-1 signature
    IPB002467 Methionine aminopeptidase


    UniProtKB/Swiss-Prot: AMP1D_HUMAN, Q6UB28
    Similarity: Belongs to the peptidase M24A 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: AMP1D_HUMAN, Q6UB28
    Function: Removes the N-terminal methionine from nascent proteins (By similarity). May play a role in colon
    tumorigenesis
    Catalytic activity: Release of N-terminal amino acids, preferentially methionine, from peptides and arylamides
    Biophysicochemical properties: Kinetic parameters: KM=573 uM for Met-pro-p-nitroanilide (at pH 8); pH dependence:
    Optimum pH is 7.5-8.0;

    Enzyme Number (IUBMB): EC 3.4.11.181 2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for METAP1D

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity TAS14532271
    GO:0008235metalloexopeptidase activity TAS14532271
    GO:0046872metal ion binding IEA--


    METAP1D for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for METAP1D:
     Increased G1 DNA content 


    (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 METAP1D

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for METAP1D (ENSP000003151524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LARS2ENSP000002655374STRING: ENSP00000265537
    METAP2ENSP000003253124STRING: ENSP00000325312
    IARS2ENSP000003032794STRING: ENSP00000303279
    MRPS16ENSP000003620364STRING: ENSP00000362036
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0018206peptidyl-methionine modification TAS14532271
    GO:0031365N-terminal protein amino acid modification TAS14532271


    METAP1D for ontologies           About GeneDecksing



    (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 METAP1D
    Search CenterWatch for drugs/clinical trials and news about METAP1D / AMP1D 

    (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 METAP1D gene: 
    NM_199227.1  

    Unigene Cluster for METAP1D:

    Methionyl aminopeptidase type 1D (mitochondrial)
    Hs.298250  [show with all ESTs]
    Unigene Representative Sequence: AK095742
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000315796(uc002uhk.3 uc010zdw.2) ENST00000493035 ENST00000493742
    ENST00000491440 ENST00000488581 ENST00000392582 ENST00000468537 ENST00000472770


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    Additional cDNA sequence: 

    AK095742.1 AY374142.1 BC029123.1 BC113644.1 BC143913.1 DQ005576.1 

    7 DOTS entries:

    DT.99935544  DT.75115530  DT.425367  DT.97811824  DT.91800477  DT.95219382  DT.99934620 

    24/62 AceView cDNA sequences (see all 62):

    BU623229 AA887324 BM982111 AI362530 AI049781 AI863797 AI936541 NM_199227 
    BU632792 AA442892 BQ445926 AY374142 BQ718186 BX106042 BU930097 BQ955379 
    AA022781 BQ002294 AI370447 CB164698 BG258429 BF438491 AA877928 AW304423 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for METAP1D    About this scheme

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


    ECgene alternative splicing isoforms for METAP1D

    (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

    METAP1D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGCCTGAGG

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

    About this image
    See METAP1D Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for METAP1D

    SOURCE GeneReport for Unigene cluster: Hs.298250

    UniProtKB/Swiss-Prot: AMP1D_HUMAN, Q6UB28
    Tissue specificity: Overexpressed in colon cancer cell lines and colon tumors as compared to normal tissues (at protein
    level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for METAP1D

    (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 last universal common ancestor (LUCA).

    Orthologs for METAP1D gene from 7/34 species (see all 34)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves METAP1D1 methionyl aminopeptidase type 1D (mitochondrial) 81.14(n)
    80.54(a)
      424150  XM_421997.3  XP_421997.2 
    lizard
    (Anolis carolinensis)
    Reptilia METAP1D6
    --
    76(a)
    1 ↔ 1
    GL343353.1(471841-496225)
    zebrafish
    (Danio rerio)
    Actinopterygii metap1d1 methionyl aminopeptidase type 1D (mitochondrial) 65.47(n)
    66.97(a)
      554090  NM_001024392.1  NP_001019563.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG51881 CG5188 55.2(n)
    51.97(a)
      34428  NM_135557.3  NP_609401.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MAP1D1 methionine aminopeptidase 1D 54.95(n)
    52.9(a)
      829858  NM_119867.2  NP_568014.1 
    rice
    (Oryza sativa)
    Liliopsida Os.107272 Oryza sativa (japonica cultivar-group) cDNA clone0 more 73.28(n)    AK066289.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria map6
    methionine aminopeptidase
    36(a)
    possible ortholog
    Chromosome(188712-189506)


    ENSEMBL Gene Tree for METAP1D (if available)
    TreeFam Gene Tree for METAP1D (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for METAP1D gene
    METAP12  
    2 SIMAP similar genes for METAP1D using alignment to 1 protein entry:     AMP1D_HUMAN:
    DKFZp781C0419    METAP1

    METAP1D for paralogs           About GeneDecksing



    (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

    10/1458 NCBI SNPs in METAP1D are shown (see all 1458    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2000080751,2
    C,probable-non-pathogenic172935747(+) AGCAAC/TTGCAG 2 T I mis10--------
    rs1423362751,2
    --172862876(+) ACCCAA/GCTTAT 1 -- us2k10--------
    rs1466117311,2
    --172862906(+) TTGGCC/GGACAT 1 -- us2k10--------
    rs1479097771,2
    --172862926(+) GCTTTG/TAACCC 1 -- us2k10--------
    rs1404817371,2
    --172862936(+) CTTCTG/TCGGTG 1 -- us2k10--------
    rs762154301,2
    --172862992(+) GCTATC/AACCTG 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1503531771,2
    --172863054(+) ATGCCA/GAACTT 1 -- us2k10--------
    rs573776751,2
    F,--172863132(+) CCTTTT/CAGTTG 1 -- us2k12Minor allele frequency- C:0.24NA EA 240
    rs798512101,2
    F,--172863279(+) ACACTT/GCTTAA 1 -- us2k11Minor allele frequency- G:0.12WA 118
    rs1380096201,2
    --172863410(+) AAAAGA/GTAGGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for METAP1D (172864490 - 172947158 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for METAP1D: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing METAP1D
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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

    METAP1D for disorders           About GeneDecksing

    OMIM gene information: 610267    OMIM disorders: --

    5 diseases for METAP1D:    About MalaCards
    colon cancer    pneumonia    tuberculosis    malaria
    mycobacterium tuberculosis


    Export disorders for METAP1D 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 METAP1D gene integrated from 9 sources:
    (articles sorted by number of sources associating them with METAP1D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An unusual peptide deformylase features in the human mitochondrial N- terminal methionine excision pathway. (PubMed id 14532271)1, 2, 3, 9 Serero A.... Meinnel T. (2003)
    2. MAP1D, a novel methionine aminopeptidase family member is overexpressed in colon cancer. (PubMed id 16568094)1, 2, 3 Leszczyniecka M.... Phillips P.E. (2006)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    6. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    7. Kinetic and mutational studies of the number of interacting divalent cations required by bacterial and human methionine aminopeptidases. (PubMed id 17929833)2 Hu X.V.... Liu J.O. (2007)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 254042 HGNC: 32583 AceView: MAP1D Ensembl:ENSG00000172878 euGenes: HUgn254042
    ECgene: METAP1D H-InvDB: METAP1D

    (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
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for METAP1D gene:
    Search GeneIP for patents involving METAP1D

    GeneCards and IP:
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    (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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