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

PRTFDC1 Gene

protein-coding   GIFtS: 52
GCID: GC10M025177

Phosphoribosyl Transferase Domain Containing 1

Microbiology & Infectious Diseases Congress
  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)
About This Section

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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_008705.16  NC_018921.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PRTFDC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NRG1

  • 2 DME Specific Peptides for PRTFDC1 (Q9NRG1)
     VLIVEDV  FVVGYALDYN 

    PRTFDC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRTFDC1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001269715.1  NP_064585.1  

    ENSEMBL proteins: 
     ENSP00000318602   ENSP00000365558   ENSP00000365556  

    Human Recombinant Protein Products for PRTFDC1: 
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    Novus Biologicals PRTFDC1 Proteins
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    Sino Biological Recombinant Protein for PRTFDC1
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for PRTFDC1
    Cloud-Clone Corp. Proteins for PRTFDC1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    PRTFDC1 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
    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,
    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: 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 (GO ID links to tree view):    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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    Inhib. RNA
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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 PRTFDC1

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

    5/12 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
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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 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 PRTFDC1 (PRDC1)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    3 QIAGEN miScript miRNA 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
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRTFDC1
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    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 

    24/108 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™, 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

    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


    See PRTFDC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRTFDC1

    SOURCE GeneReport for Unigene cluster: Hs.405619
        SABiosciences Custom PCR Arrays for PRTFDC1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRTFDC1

    (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 PRTFDC1 gene from 6/12 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 78.35(n)
    84.11(a)
      420499  NM_001199585.1  NP_001186514.1 
    lizard
    (Anolis carolinensis)
    Reptilia PRTFDC16
    phosphoribosyl transferase domain containing 1
    68(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
    46(a)
    1 → many
    I(14657355-14661414)


    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)
    About This Section
    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) 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

    10/2366 SNPs in PRTFDC1 are shown (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

    SABiosciences Cancer Mutation PCR Assays
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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
    OMIM gene information: 610751    OMIM disorders: --

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

    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)
    About This Section

    PubMed articles for PRTFDC1 gene, integrated from 9 sources (see all 19):
    (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. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    5. PRTFDC1 is a genetic modifier of HPRT-deficiency in t he mouse. (PubMed id 21818316)1 Keebaugh A.C....Thomas J.W. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    9. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (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: 56952 HGNC: 23333 AceView: PRTFDC1 Ensembl:ENSG00000099256 euGenes: HUgn56952
    ECgene: PRTFDC1 H-InvDB: PRTFDC1

    (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 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:
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