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

AUP1 Gene

protein-coding   GIFtS: 50
GCID: GC02M074753

Ancient Ubiquitous Protein 1

  Search for AUP1
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
Ancient Ubiquitous Protein 11 2

External Ids:    HGNC: 8911   Entrez Gene: 5502   Ensembl: ENSG000001153077   OMIM: 6024345   UniProtKB: Q9Y6793   

Export aliases for AUP1 gene to outside databases

Previous GC identifers: GC02M074891 GC02M074966 GC02M074711 GC02M074728 GC02M074665 GC02M074607 GC02M074490


(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 AUP1 Gene:
This gene encodes a protein that contains a domain with homology to the ancient conserved region of the archain 1
gene and a domain that may be involved in binding ubiquitin-conjugating enzymes. The protein encoded by this gene
has been shown to bind to the conserved membrane-proximal sequence of the cytoplasmic tail of integrin alpha(IIb)
subunits. These subunits play a crucial role in the integrin alpha(IIb)beta(3) inside-out signalling in platelets
and megakaryocytes that leads to platelet aggregation and thrombus formation. This gene overlaps the gene for
mitochondrial serine protease 25. (provided by RefSeq, Jul 2008)

GeneCards Summary for AUP1 Gene: 
AUP1 (ancient ubiquitous protein 1) is a protein-coding gene.

UniProtKB/Swiss-Prot: AUP1_HUMAN, Q9Y679
Function: May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum
lumen to the cytoplasm and their degradation by the proteasome

Gene Wiki entry for AUP1 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_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AUP1 gene promoter:
         STAT1   AP-1   STAT1beta   Nkx2-5   LCR-F1   Gfi-1   STAT1alpha   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAUP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AUP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AUP1


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

Entrez Gene cytogenetic band: 2p13   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13

AUP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AUP1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M074753:  view genomic region     (about GC identifiers)

Start:
74,753,772 bp from pter      End:
74,757,066 bp from pter
Size:
3,295 bases      Orientation:
minus 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: AUP1_HUMAN, Q9Y679 (See protein sequence)
Recommended Name: Ancient ubiquitous protein 1  
Size: 476 amino acids; 53028 Da
Subunit: Identified in a complex that contains SEL1L, OS9, FAF2/UBXD8, UBE2J1/UBC6E and AUP1. Interacts with the
cytoplasmic tail of ITGA2B, ITGA1, ITGA2, ITGA5, ITGAV and ITGAM
Subcellular location: Endoplasmic reticulum membrane; Single-pass type III membrane protein; Cytoplasmic side
Sequence caution: Sequence=AAH33646.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for AUP1:
2EKF (3D)    
Secondary accessions: C0H5W8 Q9H866 Q9UNQ6 Q9Y685
Alternative splicing: 3 isoforms:  Q9Y679-1   Q9Y679-2   Q9Y679-3   

Explore the universe of human proteins at neXtProt for AUP1: NX_Q9Y679

Explore proteomics data for AUP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y679

  • AUP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AUP1 Protein Expression
    REFSEQ proteins: NP_853553.1  
    ENSEMBL proteins: 
     ENSP00000403430   ENSP00000366748  

    Human Recombinant Protein Products for AUP1: 
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    Cloud-Clone Corp. Proteins for AUP1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--

    AUP1 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:
     IPR003892 CUE

    Graphical View of Domain Structure for InterPro Entry Q9Y679

    ProtoNet protein and cluster: Q9Y679

    2 Blocks protein domains:
    IPB002123 Phospholipid/glycerol acyltransferase
    IPB003892 Ubiquitin system component Cue


    UniProtKB/Swiss-Prot: AUP1_HUMAN, Q9Y679
    Similarity: Belongs to the AUP1 family
    Similarity: Contains 1 CUE domain


    AUP1 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: AUP1_HUMAN, Q9Y679
    Function: May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum
    lumen to the cytoplasm and their degradation by the proteasome

         Genatlas biochemistry entry for AUP1:
    ancient ubiquitous protein 1,43kDa,homolog to mouse Aup1 and C elegans hypothetical protein F44b9.5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    AUP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AUP1:
     Increased cell death HMECs cel 

    Animal Models:
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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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AUP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/31 Interacting proteins for AUP1 (Q9Y6791, 2, 3 ENSP000003667484) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATG12O948171, 3, ENSP000002744594EBI-1058701,EBI-746742 I2D: score=2 STRING: ENSP00000274459
    NDNQ996081, 3, ENSP000003326434EBI-1058701,EBI-718177 I2D: score=2 STRING: ENSP00000332643
    UBE2G2P606041, 3, ENSP000003383484EBI-1058701,EBI-1051028 I2D: score=2 STRING: ENSP00000338348
    RNF11Q9Y3C52, 3MINT-60876 I2D: score=2 
    ILKQ134181, 3, ENSP000002994214EBI-1058701,EBI-747644 I2D: score=2 STRING: ENSP00000299421
    About this table

    (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 AUP1

    Search CenterWatch for drugs/clinical trials and news about AUP1

    (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 AUP1 gene (3 alternative transcripts): 
    NM_181575.3  NM_012103.2  NM_181576.1  

    Unigene Cluster for AUP1:

    Ancient ubiquitous protein 1
    Hs.411480  [show with all ESTs]
    Unigene Representative Sequence: AK055566
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425118 ENST00000377526(uc002smf.3 uc002smg.3 uc010yrx.2)
    ENST00000463900(uc002smh.3 uc010yry.2) ENST00000466894(uc021vjm.1)
    ENST00000486234(uc002sme.3) ENST00000462297 ENST00000464887 ENST00000472800

    miRNA
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    hsa-miR-361-3p hsa-miR-330-5p hsa-miR-324-3p hsa-miR-3193 hsa-miR-326 hsa-miR-1539 hsa-miR-570
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    Additional mRNA sequence: 

    AF100746.1 AF100753.1 AF100754.1 AF165515.1 AK055566.1 AK293121.1 AK301398.1 AK304886.1 
    AK308231.1 AK310159.1 BC033646.2 CR749661.1 

    24/25 DOTS entries (see all 25):

    DT.87079417  DT.100877647  DT.100877637  DT.102843288  DT.101973212  DT.97797142  DT.91764404  DT.91764412 
    DT.95165946  DT.100877645  DT.120975066  DT.120975075  DT.100762292  DT.120975071  DT.91764410  DT.95165939 
    DT.100700650  DT.100877633  DT.100877635  DT.100877649  DT.101985233  DT.86855591  DT.91858845  DT.91904269 

    24/629 AceView cDNA sequences (see all 629):

    AA768401 BC001658 BM802885 AA001707 BX394252 BE792097 CR598997 AA724038 
    AI199478 BM782747 BP428843 BF689714 BU183857 CR623109 CA443780 CR615352 
    BM924001 BC033238 CR622018 BM969119 BM769479 CA429241 BQ677010 BQ638929 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for AUP1 (see all 13)    About this scheme

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


    ECgene alternative splicing isoforms for AUP1

    (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

    AUP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTTCATTC
    AUP1 Expression
    About this image


    See AUP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AUP1

    SOURCE GeneReport for Unigene cluster: Hs.411480

    UniProtKB/Swiss-Prot: AUP1_HUMAN, Q9Y679
    Tissue specificity: Detected in blood platelets and leukocytes (at protein level). Ubiquitous. Highly expressed in
    placenta, liver, kidney, skeletal muscle, heart and brain

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    In Situ
    Assay Products:
     

     
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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 AUP1 gene from 5/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aup11 , 5 ancient ubiquitous protein 11, 5 89.67(n)1
    90.24(a)1
      6 (35.94 cM)5
    119931  NM_007517.31  NP_031543.21 
     830546535 
    chicken
    (Gallus gallus)
    Aves AUP11 ancient ubiquitous protein 1 65.03(n)
    62.72(a)
      769206  XM_001232436.2  XP_001232437.2 
    lizard
    (Anolis carolinensis)
    Reptilia AUP16
    Uncharacterized protein
    47(a)
    1 ↔ 1
    GL343867.1(41533-50188)
    zebrafish
    (Danio rerio)
    Actinopterygii wufc37d062 wufc37d06 75.61(n)   324654  BC059643.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F44B9.51 Protein F44B9.5 42.51(n)
    37.31(a)
      176127  NM_066345.3  NP_498746.1 


    ENSEMBL Gene Tree for AUP1 (if available)
    TreeFam Gene Tree for AUP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AUP1 gene
    1 SIMAP similar gene for AUP1 using alignment to 1 protein entry:     AUP1_HUMAN:
    DKFZp686P12272

    AUP1 for paralogs           About GeneDecksing



    (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
    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for AUP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv458185CNV Loss19166990
    nsv515851CNV Loss19592680
    dgv4166n71CNV Loss21882294
    dgv1199e1CNV Complex17122850

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    (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

    AUP1 for disorders           About MalaCards
    OMIM gene information: 602434    OMIM disorders: --


    AUP1 for disorders           About GeneDecksing


    Export disorders for AUP1 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 AUP1 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with AUP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ancient ubiquitous protein 1 binds to the conserved membrane-proximal sequence of the cytoplasmic tail of the integrin alpha subunits that plays a crucial role in the inside-out signaling of alpha IIbbeta 3. (PubMed id 12042322)1, 2, 3, 9 Kato A.... Oshimi K. (2002)
    2. SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins. (PubMed id 18711132)1, 2 Mueller B.... Ploegh H.L. (2008)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    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. 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)
    6. Aup1, a novel gene on mouse chromosome 6 and human chromosome 2p13. (PubMed id 8812468)1, 3 Jang W....Meisler M.H. (1996)
    7. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (2013)
    8. Monotopic topology is required for lipid droplet targe ting of ancient ubiquitous protein 1. (PubMed id 23197321)1 Stevanovic A. and Thiele C. (2013)
    9. Ancient ubiquitous protein-1 mediates sterol-induced u biquitination of 3-hydroxy-3-methylglutaryl CoA reductase in lipid droplet-assoc iated endoplasmic reticulum membranes. (PubMed id 23223569)1 Jo Y....DeBose-Boyd R.A. (2013)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)

    (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: 550 HGNC: 891 AceView: AUP1andDQX1 Ensembl:ENSG00000115307 euGenes: HUgn550
    ECgene: AUP1 H-InvDB: AUP1

    (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 AUP1 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 AUP1 gene:
    Search GeneIP for patents involving AUP1

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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