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

PLBD1 Gene

protein-coding   GIFtS: 45
GCID: GC12M014657

phospholipase B domain containing 1

  Search for PLBD1
in our new
 Human Malady Compendium 
Biological research products
for PLBD1
    

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

Aliases
Phospholipase B Domain Containing 11 2     Phospholipase B-Like 12
Lamina Ancestor Homolog 12 3     PLB Homolog 12
Phospholipase B Domain-Containing Protein 12 3     Putative Phospholipase B-Like 12
LAMA-Like Protein 12 3     EC 3.1.1.-3
FLJ226621     EC 3.1.18

External Ids:    HGNC: 262151   Entrez Gene: 798872   Ensembl: ENSG000001213167   UniProtKB: Q6P4A83   

Export aliases for PLBD1 gene to outside databases

Previous GC identifers: GC12M014548 GC12M014425


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

UniProtKB/Swiss-Prot: PLBL1_HUMAN, Q6P4A8
Function: Phospholipase acting on various phospholipids including phosphatidylcholine, phosphatidylinositol,
phosphatidylethanolamine and lysophospholipids. May have a role in the defense against invading microorganisms and in
the generation of lipid mediators of inflammation




(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_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PLBD1 gene promoter:
         c-Fos   USF1   AP-1   SREBP-1c   USF2   USF-1:USF-2   SREBP-1b   SREBP-1a   USF-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLBD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PLBD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLBD1


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

Entrez Gene cytogenetic band: 12p13.1   Ensembl cytogenetic band:  12p13.1   HGNC cytogenetic band: 12p13.1

PLBD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLBD1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M014657:  view genomic region     (about GC identifiers)

Start:
14,656,595 bp from pter      End:
14,721,283 bp from pter
Size:
64,689 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: PLBL1_HUMAN, Q6P4A8 (See protein sequence)
Recommended Name: Phospholipase B-like 1 precursor  
Size: 553 amino acids; 63255 Da
Subunit: May exist as a non-covalently associated tetramer of two 22 kDa and two 42 kDa chains
Subcellular location: Cytoplasmic granule. Secreted
Sequence caution: Sequence=AAH00909.2; Type=Erroneous initiation; Sequence=BAB15442.1; Type=Erroneous initiation;
Secondary accessions: A8K4E9 Q9BVV3 Q9H625

Explore the universe of human proteins at neXtProt for PLBD1: NX_Q6P4A8

Post-translational modifications:

  • Proteolytic processing leading to a 22 kDa N-terminal and a 42 kDa C-terminal fragment appears necessary for activity,
  • which seems to derive from the 42 kDa chain1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6P4A8

  • 4/5 DME Specific Peptides for PLBD1 (Q6P4A8) (see all 5)
     GYWPSYN  NSGTYNN  LSNEIIMF  TNLYPQLI 

    PLBD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079105.4  
    ENSEMBL proteins: 
     ENSP00000240617   ENSP00000441278   ENSP00000438367  
    Reactome Protein details: Q6P4A8
    Human Recombinant Protein Products: 
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    Novus Biologicals PLBD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PLBD1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005829cytosol TAS--


    PLBD1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PLBD1


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

    PLBD1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007000 PLipase_B-like

    Graphical View of Domain Structure for InterPro Entry Q6P4A8

    ProtoNet protein and cluster: Q6P4A8

    UniProtKB/Swiss-Prot: PLBL1_HUMAN, Q6P4A8
    Similarity: Belongs to the phospholipase B-like 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: PLBL1_HUMAN, Q6P4A8
    Function: Phospholipase acting on various phospholipids including phosphatidylcholine, phosphatidylinositol,
    phosphatidylethanolamine and lysophospholipids. May have a role in the defense against invading microorganisms and in
    the generation of lipid mediators of inflammation
    Biophysicochemical properties: pH dependence: Optimum pH is 7.4;

    Enzyme Numbers (IUBMB): EC 3.1.12 EC 3.1.1.-1

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PLBD1:
    hsa-miR-9
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLBD1 (see all 4)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLBD1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity IEA--


    PLBD1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PLBD1:
     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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Acyl chain remodelling of PE
    Acyl chain remodelling of PE1.00
    Acyl chain remodelling of PI0.62
    Acyl chain remodelling of PC0.85
    Hydrolysis of LPC0.29
    2Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis1.00
    Phospholipid metabolism0.64
    3Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for PLBD1 (see all 8)
        Acyl chain remodelling of PE
    Metabolism
    Acyl chain remodelling of PC
    Hydrolysis of LPC
    Phospholipid metabolism



    PLBD1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PLBD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for PLBD1 (ENSP000002406174) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GPCPD1ENSP000003683054STRING: ENSP00000368305
    LPCAT1ENSP000002834154STRING: ENSP00000283415
    LPCAT2ENSP000002621344STRING: ENSP00000262134
    LPCAT4ENSP000003173004STRING: ENSP00000317300
    MBOAT1ENSP000003249444STRING: ENSP00000324944
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0016042lipid catabolic process IEA--
    GO:0036149phosphatidylinositol acyl-chain remodeling TAS--
    GO:0036151phosphatidylcholine acyl-chain remodeling TAS--
    GO:0036152phosphatidylethanolamine acyl-chain remodeling TAS--


    PLBD1 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 PLBD1
    Search CenterWatch for drugs/clinical trials and news about PLBD1 / PLBL1 

    (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 PLBD1 gene: 
    NM_024829.5  

    Unigene Cluster for PLBD1:

    Phospholipase B domain containing 1
    Hs.131933  [show with all ESTs]
    Unigene Representative Sequence: NM_024829
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000240617(uc001rcc.1) ENST00000541800 ENST00000541618 ENST00000540572


    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PLBD1:
    hsa-miR-9
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK026315.1 AK225458.1 AK290914.1 BC000909.2 BC063561.1 

    7 DOTS entries:

    DT.215545  DT.121150828  DT.75101935  DT.91734534  DT.121150822  DT.75102752  DT.91817248 

    24/194 AceView cDNA sequences (see all 194):

    BX643808 AW629861 AW169974 BG542885 BG572884 BU581527 BQ101253 CR602008 
    AA298290 AA513409 CR621086 BM263066 BU736309 CR615954 BM142639 AA252038 
    CR598292 AA931082 BG110795 AA669072 BX116782 AI025079 BX344111 BQ721063 

    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

    PLBD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAACCAATTT

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

    About this image

    PLBD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSertoli cellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PLBD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLBD1

    SOURCE GeneReport for Unigene cluster: Hs.131933

    UniProtKB/Swiss-Prot: PLBL1_HUMAN, Q6P4A8
    Tissue specificity: Expressed in neutrophils and monocytes

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLBD1

    (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 chordates.

    Orthologs for PLBD1 gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PLBD11 phospholipase B domain containing 1 70.11(n)
    69.73(a)
      417967  XM_416206.3  XP_416206.2 
    lizard
    (Anolis carolinensis)
    Reptilia PLBD16
    --
    68(a)
    1 ↔ 1
    GL343714.1(85357-104026)
    zebrafish
    (Danio rerio)
    Actinopterygii plbd11 phospholipase B domain containing 1 60.41(n)
    58.89(a)
      569736  NM_001130791.1  NP_001124263.1 


    ENSEMBL Gene Tree for PLBD1 (if available)
    TreeFam Gene Tree for PLBD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PLBD1 gene
    PLBD22  

    PLBD1 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

    10/1075 NCBI SNPs in PLBD1 are shown (see all 1075    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1898658771,2
    --14656124(+) TGTATC/TGTATG 1 -- int10--------
    rs1829788121,2
    --14656340(+) CACTCG/TTCTCA 1 -- int10--------
    rs782049031,2
    C,--14656507(+) TTAGTG/ATTATT 1 -- int12Minor allele frequency- A:0.21CSA WA 120
    rs1486304071,2
    C,--14656605(+) GTGAC-/AAATT 
            
    AATAT
    1 -- ut310--------
    rs38383511,2
    C--14656607(+) GACAA-/ATTAA 
            
    TATAT
    2 -- ut311Minor allele frequency- ATTAA:0.00NA 2
    rs1136733311,2
    C,F,--14656732(+) AATTGG/ATTTCA 2 /P /S mis13Minor allele frequency- A:0.00CSA NA EU 5871
    rs16001,2
    C,F,O,A,H,--14656768(+) CTCTGG/CCATGC 2 /P /A mis122Minor allele frequency- C:0.48MN NA EA NS WA CSA EU 8601
    rs1417676191,2
    C,F,--14656783(+) ATGTAG/CAGTTT 2 /L /V mis11Minor allele frequency- C:0.00NA 4552
    rs1454133421,2
    C,F,--14656797(+) TGAAAC/TGGTCC 2 H R mis11Minor allele frequency- T:0.01NA 4552
    rs1381535981,2
    C,--14656911(+) GAGGAC/GATTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for PLBD1 (14656595 - 14721283 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PLBD1: --

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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 PLBD1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with PLBD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The identification of a phospholipase B precursor in human neutrophils. (PubMed id 19019078)1, 2, 3 Xu S....Venge P. (2009)
    2. Identification of phospholipase B from Dictyostelium discoideum reveals a new lipase family present in mammals, flies and nematodes, but not yeast. (PubMed id 15193148)1, 3 Morgan C.P....Cockcroft S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. ErbB2-associated changes in the lysosomal proteome. (PubMed id 21674799)1 Nylandsted J....Jaattela M. (2011)
    7. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    8. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
    9. 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)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 79887 HGNC: 26215 AceView: FLJ22662 Ensembl:ENSG00000121316 euGenes: HUgn79887
    ECgene: PLBD1 H-InvDB: PLBD1

    (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 PLBD1 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 PLBD1 gene:
    Search GeneIP for patents involving PLBD1

    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, 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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