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

RPRD1A Gene

protein-coding   GIFtS: 49
GCID: GC18M033569

regulation of nuclear pre-mRNA domain containing 1A

 Explore 3 diseases affiliated with
RPRD1A via our new
 Human Malady Compendium 
Biological research products
for RPRD1A
    

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

Aliases
Regulation Of Nuclear Pre-MRNA Domain Containing 1A1 2     Cyclin-Dependent Kinase 2B-Inhibitor-Related Protein2
P15RS1 2 3     Cyclin-Dependent Kinase Inhibitor 2B-Related Protein (P15INK4B-Related Protein)2
HsT31011 2     Regulation Of Nuclear Pre-MRNA Domain-Containing Protein 1A2
P15INK4B-Related Protein2 3     Cyclin-Dependent Kinase Inhibitor 2B-Related Protein3
FLJ106561     

External Ids:    HGNC: 255601   Entrez Gene: 551972   Ensembl: ENSG000001414257   OMIM: 6103475   UniProtKB: Q96P163   

Export aliases for RPRD1A gene to outside databases

Previous GC identifers: GC18M031824 GC18M030428


(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 RPRD1A:
P15RS is upregulated in cells overexpressing cyclin-dependent kinase inhibitor p15(INK4b) (CDKN2B; MIM 600431) and may
have a role in cell cycle regulation (Liu et al., 2002 (PubMed 12470661)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: RPR1A_HUMAN, Q96P16
Function: Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II
subunit POLR2A, and participates in dephosphorylation of the CTD. May act as a negative regulator of cyclin-D1 (CCND1)
and cyclin-E (CCNE1) in the cell cycle




(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_000018.9  NC_018929.1  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RPRD1A gene promoter:
         AhR   Sp1   HTF   Arnt   Pax-3   POU2F1   POU2F1b   POU2F1a   POU2F1c   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPRD1A promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPRD1A


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

Entrez Gene cytogenetic band: 18q12.2   Ensembl cytogenetic band:  18q12.2   HGNC cytogenetic band: 18q12.2

RPRD1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPRD1A gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M033569:  view genomic region     (about GC identifiers)

Start:
33,564,350 bp from pter      End:
33,647,539 bp from pter
Size:
83,190 bases      Orientation:
minus 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: RPR1A_HUMAN, Q96P16 (See protein sequence)
Recommended Name: Regulation of nuclear pre-mRNA domain-containing protein 1A  
Size: 312 amino acids; 35720 Da
Subunit: Associates with the RNA polymerase II complex
Sequence caution: Sequence=AAH10136.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
Secondary accessions: A8KA42 B2RBA3 Q7Z5G8 Q96FY9 Q9NVL4
Alternative splicing: 2 isoforms:  Q96P16-1   Q96P16-3   

Explore the universe of human proteins at neXtProt for RPRD1A: NX_Q96P16

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96P16

  • RPRD1A Protein expression data from MOPED and PaxDb:    About this image 
    RPRD1A Protein Expression
    REFSEQ proteins: NP_060640.2  
    ENSEMBL proteins: 
     ENSP00000468108   ENSP00000468173   ENSP00000467991   ENSP00000381984   ENSP00000349955  
     ENSP00000465444   ENSP00000467268   ENSP00000468209   ENSP00000467949   ENSP00000337476  
     ENSP00000314602  

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    Uscn Proteins for RPRD1A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016591DNA-directed RNA polymerase II, holoenzyme IDA--

    RPRD1A for ontologies           About GeneDecksing



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

    RPRD1A for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR006903 RNA_pol_II-bd
     IPR006569 RNA_polymerase_II_lsu_CTD
     IPR008942 ENTH_VHS

    Graphical View of Domain Structure for InterPro Entry Q96P16

    ProtoNet protein and cluster: Q96P16

    1 Blocks protein family: IPB006569 Regulation of nuclear pre-mRNA protein

    UniProtKB/Swiss-Prot: RPR1A_HUMAN, Q96P16
    Similarity: Belongs to the UPF0400 (RTT103) family
    Similarity: Contains 1 CID domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPR1A_HUMAN, Q96P16
    Function: Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II
    subunit POLR2A, and participates in dephosphorylation of the CTD. May act as a negative regulator of cyclin-D1 (CCND1)
    and cyclin-E (CCNE1) in the cell cycle
    Induction: Up-regulated in cells overexpressing CDKN2B

    Phenotypes:
         3 GenomeRNAi human phenotypes for RPRD1A:

     Decreased focal adhesion (FA)   Decreased telomerase activity  Increased S DNA content 

    Animal Models:
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    In Situ Assay
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    (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 RPRD1A

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

    5/8 Interacting proteins for RPRD1A (Q96P163 ENSP000003499554) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSTK1Q9Y2Q33I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    SUMO2ENSP000004059654STRING: ENSP00000405965
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    BCAR3ENSP000002605024STRING: ENSP00000260502
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070940dephosphorylation of RNA polymerase II C-terminal domain IMP--

    RPRD1A 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
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    Browse Tocris compounds for RPRD1A
    Search CenterWatch for drugs/clinical trials and news about RPRD1A / RPR1A 

    (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,
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    About This Section

    REFSEQ mRNAs for RPRD1A gene: 
    NM_018170.3  

    Unigene Cluster for RPRD1A:

    Regulation of nuclear pre-mRNA domain containing 1A
    Hs.464912  [show with all ESTs]
    Unigene Representative Sequence: AF419845
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000587563 ENST00000585879 ENST00000590898 ENST00000399022(uc002kze.1 uc002kzg.3 uc010dmw.3)
    ENST00000357384 ENST00000588737 ENST00000585953 ENST00000591994 ENST00000589050
    ENST00000592674 ENST00000588459 ENST00000337059 ENST00000319040(uc010dmx.3)


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    hsa-miR-607 hsa-miR-300 hsa-miR-3653 hsa-miR-30d hsa-miR-759 hsa-miR-342-3p hsa-miR-30a hsa-miR-3613-3p
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    Additional cDNA sequence: 

    AF419845.1 AK001518.1 AK056810.1 AK292907.1 AK314569.1 BC000225.1 BC010136.2 

    18 DOTS entries:

    DT.100798273  DT.95295061  DT.91756332  DT.408566  DT.121085367  DT.100798268  DT.121085379  DT.121085386 
    DT.121085404  DT.100798270  DT.121380832  DT.121085377  DT.92048565  DT.100831058  DT.121085360  DT.91803099 
    DT.100673604  DT.100798274 

    24/335 AceView cDNA sequences (see all 335):

    CB121734 BM013953 AA287861 AI859621 NM_018170 AA453209 AA886724 AW613180 
    BC010136 AI828693 AW001964 BX096043 CR617134 CK300464 AI200929 BF590199 
    N50338 BQ773437 CR612452 BQ021744 BU620285 BU633990 AA906717 AL709369 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RPRD1A (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b · 12c ^ 13
    SP1:                          -     -     -                                   -                       -     -           -     -         
    SP2:                          -     -     -     -                             -                       -     -                           
    SP3:                          -     -     -     -                             -                       -                                 
    SP4:                          -     -     -     -     -     -                 -                                                         
    SP5:                          -           -                                                                                             


    ECgene alternative splicing isoforms for RPRD1A

    (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

    RPRD1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAAGATGAA
    RPRD1A Expression
    About this image
    See RPRD1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPRD1A

    SOURCE GeneReport for Unigene cluster: Hs.464912
        SABiosciences Custom PCR Arrays for RPRD1A

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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 eukaryotes.

    Orthologs for RPRD1A gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RPRD1A1 regulation of nuclear pre-mRNA domain containing 1A 84.86(n)
    90.84(a)
      420953  NM_001031005.2  NP_001026176.1 
    lizard
    (Anolis carolinensis)
    Reptilia RPRD1A6
    --
    86(a)
    1 ↔ 1
    6(57683715-57714321)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1376962422   -- 79.95(n)    137696242 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5605651 regulation of nuclear pre-mRNA domain-containing protein more 68.18(n)
    74.68(a)
      560565  XM_683963.5  XP_689055.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90186
    --
    38(a)
    1 → many
    3L(2235284-2237076)
    worm
    (Caenorhabditis elegans)
    Secernentea cids-11 Protein CIDS-1 41.58(n)
    26.5(a)
      176162  NM_066406.3  NP_498807.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RTT1031 Rtt103p 41.92(n)
    30.3(a)
      851884   NP_010575.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G100606
    AT5G651806
    (see all 3)
    ENTH/VHS family protein
    (see all 3)
    19(a)
    18(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    5(3145749-3148379)
    5(26045361-26048031)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 4)
    protein of unknown function, DUF618 domain contain...
    protein of unknown function, DUF618 domain contain...
    (see all 4)
    14(a)
    14(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    4(32193596-32196934)
    1(40539921-40553708)


    ENSEMBL Gene Tree for RPRD1A (if available)
    TreeFam Gene Tree for RPRD1A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RPRD1A gene
    RPRD1B2  RPRD22  
    1 SIMAP similar gene for RPRD1A using alignment to 4 protein entries:     RPR1A_HUMAN (see all proteins):
    RPRD1B

    RPRD1A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RPRD1A
    PGOHUM00000249129


    (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

    5 NCBI SNPs in RPRD1A are shown     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1415311561,2
    --33588540(+) GTGTG-/TGTGTG
    TATATATA
    TATAT
    1 -- int10--------
    rs598202841,2
    C--33595167(+) ACACACA/-TTCAC 1 -- int11Minor allele frequency- -:0.00NA 2
    rs743278141,2
    C--33598236(+) TTACAT/CTTTTT 1 -- int15Minor allele frequency- C:0.00WA NA CSA 13
    rs1995576731,2
    --33598236(+) TTACA-/CTTTTT 1 -- int10--------
    rs2013666371,2
    C--33634171(+) TCTATG/TGGCTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for RPRD1A (33564350 - 33647539 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RPRD1A
         1 CNV: 67327

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RPRD1A for disorders           About GeneDecksing

    OMIM gene information: 610347    OMIM disorders: --

    3 diseases for RPRD1A:    About MalaCards
    acute lymphoblastic leukemia    lymphoblastic leukemia    leukemia

    1 Novoseek disease relationship for RPRD1A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 5.79 2 9892092 (1)


    Export disorders for RPRD1A 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 RPRD1A gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with RPRD1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of P15RS, a novel P15(INK4b) related gene on G1/S progression. (PubMed id 12470661)1, 2, 3, 9 Liu J.... Hu Z. (2002)
    2. Control of the RNA polymerase II phosphorylation stat e in promoter regions by CTD interaction domain-containing proteins RPRD1A and RPRD1B. (PubMed id 22231121)1, 2, 3 Ni Z....Greenblatt J.F. (2011)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Cellular and molecular evidence for malignancy-inhibit ory functions of p15RS. (PubMed id 22580456)1 Zhang X....Zhang W. (2012)
    5. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    6. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Activity-based chemical proteomics accelerates inhibi tor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. p15RS attenuates Wnt/{beta}-catenin signaling by disr upting {beta}-cateninA^TCF4 Interaction. (PubMed id 20739273)1 Wu Y....Chang Z. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
    About This Section
    Entrez Gene: 55197 HGNC: 25560 AceView: P15RS Ensembl:ENSG00000141425 euGenes: HUgn55197
    ECgene: RPRD1A H-InvDB: RPRD1A

    (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 RPRD1A 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 RPRD1A gene:
    Search GeneIP for patents involving RPRD1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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