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PRTFDC1 Gene

protein-coding   GIFtS: 52
GCID: GC10M025177

Phosphoribosyl Transferase Domain Containing 1

  See related diseases
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
Phosphoribosyl Transferase Domain Containing 11 2
HHGP2 3
Phosphoribosyltransferase Domain-Containing Protein 12
EC 2.4.28
EC 2.4.2.88

External Ids:    HGNC: 233331   Entrez Gene: 569522   Ensembl: ENSG000000992567   OMIM: 6107515   UniProtKB: Q9NRG13   

Export aliases for PRTFDC1 gene to outside databases

Previous GC identifers: GC10M025141 GC10M024799


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PRTFDC1 Gene:
PRTFDC1 (phosphoribosyl transferase domain containing 1) is a protein-coding gene. Diseases associated with PRTFDC1 include lesch-nyhan syndrome, and oral squamous cell carcinoma. GO annotations related to this gene include magnesium ion binding and protein homodimerization activity. An important paralog of this gene is HPRT1.

UniProtKB/Swiss-Prot: PRDC1_HUMAN, Q9NRG1
Function: Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and
alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP
salvage




(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:
NC_000010.11  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRTFDC1 gene promoter:
         MZF-1   Spz1   AML1a   HFH-1   FOXO3   FOXO3a   AP-4   E47   FOXO3b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRTFDC1 promoter sequence
   Search Chromatin IP Primers for PRTFDC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRTFDC1


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

Entrez Gene cytogenetic band: 10p12.1   Ensembl cytogenetic band:  10p12.1   HGNC cytogenetic band: 10p12.31

PRTFDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRTFDC1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M025177:  view genomic region     (about GC identifiers)

Start:
25,137,536 bp from pter      End:
25,241,533 bp from pter
Size:
103,998 bases      Orientation:
minus 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, 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., 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: PRDC1_HUMAN, Q9NRG1 (See protein sequence)
Recommended Name: Phosphoribosyltransferase domain-containing protein 1  
Size: 225 amino acids; 25674 Da
Subunit: Homodimer
Caution: Lacks the conserved active site Asp and has no significant phosphoribosyltransferase activity
Sequence caution: Sequence=BAD93029.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for PRTFDC1:
2JBH (3D)    
Secondary accessions: B7Z1Z3 Q53HA7 Q59EL9 Q5VV18 Q5VV20
Alternative splicing: 3 isoforms:  Q9NRG1-1   Q9NRG1-2   Q9NRG1-3   

Explore the universe of human proteins at neXtProt for PRTFDC1: NX_Q9NRG1

Explore proteomics data for PRTFDC1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys173
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for PRTFDC1 (Q9NRG1)
     VLIVEDV  FVVGYALDYN 


    See PRTFDC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001269715.1  NP_064585.1  

    ENSEMBL proteins: 
     ENSP00000318602   ENSP00000365558   ENSP00000365556  

    PRTFDC1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR005904 Hxn_phspho_trans
     IPR000836 PRibTrfase_dom

    Graphical View of Domain Structure for InterPro Entry Q9NRG1

    ProtoNet protein and cluster: Q9NRG1

    UniProtKB/Swiss-Prot: PRDC1_HUMAN, Q9NRG1
    Similarity: Belongs to the purine/pyrimidine phosphoribosyltransferase family


    PRTFDC1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRDC1_HUMAN, Q9NRG1
    Function: Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and
    alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP
    salvage

         Enzyme Numbers (IUBMB): EC 2.4.2.82 EC 2.4.22

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0000287magnesium ion binding TAS--
    GO:0004422NOT hypoxanthine phosphoribosyltransferase activity IDA--
    GO:0042803protein homodimerization activity IPI--
         
    PRTFDC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PRTFDC1:
     Synthetic lethal with Ras 

    Animal Models:
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    hsa-miR-576-5p hsa-miR-330-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidPRTFDC1 3' UTR sequence
    Inhib. RNA
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    peroxisome2
    cytoskeleton1
    extracellular1
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol IBA--

    PRTFDC1 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PRTFDC1
    Interactions:

        Search GeneGlobe Interaction Network for PRTFDC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for PRTFDC1 (Q9NRG12, 3 ENSP000003186024) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FLAD1Q8NFF52, 3, ENSP000002921804MINT-66367 I2D: score=5 STRING: ENSP00000292180
    FAM86AQ96G042, 3, ENSP000003985024MINT-67146 I2D: score=4 STRING: ENSP00000398502
    HPRT1P004922, 3, ENSP000002985564MINT-68331 I2D: score=5 STRING: ENSP00000298556
    STAT5AP422292, 3, ENSP000003412084MINT-68247 I2D: score=5 STRING: ENSP00000341208
    NIF3L1Q9GZT82, 3, ENSP000003863944MINT-66143 I2D: score=5 STRING: ENSP00000386394
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    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006166NOT purine ribonucleoside salvage IBA--
    GO:0006168NOT adenine salvage IBA--
    GO:0006178NOT guanine salvage IDA--
    GO:0009116nucleoside metabolic process ----
    GO:0032263NOT GMP salvage IBA--

    PRTFDC1 for ontologies           About GeneDecksing



    (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 PRTFDC1 (PRDC1)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PRTFDC1 gene (2 alternative transcripts): 
    NM_001282786.1  NM_020200.6  

    Unigene Cluster for PRTFDC1:

    Phosphoribosyl transferase domain containing 1
    Hs.405619  [show with all ESTs]
    Unigene Representative Sequence: NM_020200
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320152(uc001ise.1 uc010qdd.1 uc009xkm.1) ENST00000376378
    ENST00000376376
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate PRTFDC1:
    hsa-miR-576-5p hsa-miR-330-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidPRTFDC1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat PRTFDC1
      QuantiFast Probe-based Assays in human, mouse, rat PRTFDC1

    Additional mRNA sequence: 

    AB209792.1 AF226056.1 AK021950.1 AK222674.1 AK294130.1 AK304055.1 AK309614.1 BC008662.2 

    8 DOTS entries:

    DT.409886  DT.75154558  DT.100774630  DT.91749750  DT.91749752  DT.121280446  DT.97807895  DT.121280444 

    Selected AceView cDNA sequences (see all 108):

    BM768969 CK818776 CR619546 CR617937 BC008662 BM831070 BP362073 BM821338 
    BU151307 BM766205 BM823597 CR596757 AA358233 AU120059 BI768153 BX440549 
    CR615591 AL535461 NM_020200 AK021950 AW026416 AA557390 AA007505 BX448610 

    GeneLoc Exon Structure


    (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)
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    PRTFDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PRTFDC1 Expression
    About this image

    PRTFDC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRTFDC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.405619
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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 animals.

    Orthologs for PRTFDC1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    rat
    (Rattus norvegicus)
    Mammalia Prtfdc11 phosphoribosyl transferase domain containing 1 86.37(n)
    91.56(a)
      291355  NM_001106127.1  NP_001099597.1 
    chicken
    (Gallus gallus)
    Aves PRTFDC11 phosphoribosyl transferase domain containing 1 77.78(n)
    81.78(a)
      420499  NM_001199585.1  NP_001186514.1 
    lizard
    (Anolis carolinensis)
    Reptilia PRTFDC16
    phosphoribosyl transferase domain containing 1
    66(a)
    1 ↔ 1
    6(15219125-15260492)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.74092 Xenopus laevis transcribed sequence with weak similarity more 75.41(n)    BX854233.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hprt12 hypoxanthine guanine phosphoribosyltransferase-like 75.72(n)   30765  BC047173.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y105E8B.56
    Protein Y105E8B.5 (Y105E8B.5) mRNA, complete cds
    46(a)
    1 → many
    I(14657355-14661414) WBGene00013690


    ENSEMBL Gene Tree for PRTFDC1 (if available)
    TreeFam Gene Tree for PRTFDC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRTFDC1 gene
    HPRT12  
    1 SIMAP similar gene for PRTFDC1 using alignment to 1 protein entry:     PRDC1_HUMAN:
    HPRT1

    PRTFDC1 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), 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 PRTFDC1 (see all 2366)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs339368501,2
    C--24854698(+) ACACA-/C/CA  
            
    AGGAA
    1 -- int11NA 2
    rs1838549991,2
    --24904578(+) TTGAAA/CGACAA 1 -- us2k10--------
    rs1881797421,2
    --24904614(+) AGAACA/TTCCTA 1 -- us2k10--------
    rs1848449131,2
    C--25137104(+) GAAAAA/GAAAGC 1 -- ds50010--------
    rs1441565571,2
    --25137133(+) TTTGGC/TATTTC 1 -- ds50010--------
    rs1887762151,2
    --25137246(+) GATATG/TTGGGT 1 -- ds50010--------
    rs1815605021,2
    --25137274(+) CTGACC/TGAAAC 1 -- ds50010--------
    rs1482347761,2
    C--25137275(+) TGACCA/GAAACA 1 -- ds50010--------
    rs760080481,2
    C,F--25137295(+) AGGAAA/GATCTT 1 -- ds50011Minor allele frequency- G:0.03NA 120
    rs1412646221,2
    --25137333(+) ACAAAC/TGAGCT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PRTFDC1 (25137536 - 25241533 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PRTFDC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657741CNV Deletion23128226
    nsv510214CNV Loss20534489
    nsv819709CNV Gain19587683

    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: 610751    OMIM disorders: --

    7 diseases for PRTFDC1:    
    About MalaCards
    lesch-nyhan syndrome    oral squamous cell carcinoma    pneumonia    squamous cell carcinoma
    cerebritis    tuberculosis    obesity

    1 disease from the University of Copenhagen DISEASES database for PRTFDC1:
    Lesch-Nyhan syndrome

    PRTFDC1 for disorders           About GeneDecksing


    Export disorders for PRTFDC1 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 PRTFDC1 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with PRTFDC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1. (PubMed id 21054786)1, 2 Welin M.... Nordlund P. (FEBS J. 2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. (PubMed id 23934736)1 Yu B....Boerwinkle E. (Genet. Epidemiol. 2013)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    6. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    7. PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse. (PubMed id 21818316)1 Keebaugh A.C....Thomas J.W. (PLoS ONE 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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      (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: 56952 HGNC: 23333 AceView: PRTFDC1 Ensembl:ENSG00000099256 euGenes: HUgn56952
    ECgene: PRTFDC1 H-InvDB: PRTFDC1

    (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 PRTFDC1 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 PRTFDC1 gene:
    Search GeneIP for patents involving PRTFDC1

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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