Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

PLEKHB1 Gene

protein-coding   GIFtS: 51
GCID: GC11P073357

pleckstrin homology domain containing, family B (evectins)...

(Previous names: PH domain containing, retinal 1 )
(Previous symbol: PHRET1)
 Explore 2 diseases affiliated with
PLEKHB1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PLEKHB1    

Aliases
for PLEKHB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Pleckstrin Homology Domain Containing, Family B (Evectins) Member 11 2     PH Domain-Containing Protein In Retina 12 3
KPL11 2 3 5     Evectin-13
PHR11 2 3 5     PH Domain Containing Protein In Retina 12
PHRET11 2 3     Pleckstrin Homology Domain-Containing Family B Member 12
PH Domain Containing, Retinal 11 2     EVT13
Pleckstrin Homology Domain Retinal Protein 12 3     Evectin-13
PH Domain-Containing Family B Member 12 3     

External Ids:    HGNC: 190791   Entrez Gene: 584732   Ensembl: ENSG000000213007   OMIM: 6076515   UniProtKB: Q9UF113   

Export aliases for PLEKHB1 gene to outside databases

Previous GC identifers: GC11P074896 GC11P073579 GC11P073083 GC11P073022 GC11P069652


Summaries
for PLEKHB1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: PKHB1_HUMAN, Q9UF11
Function: Required for proper localization of retinogeniculate projections but not for eye-specific segregation (By
similarity)




Genomic Views
for PLEKHB1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PLEKHB1 gene promoter:
         Bach1   Pax-5   GCNF   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PLEKHB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PLEKHB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLEKHB1


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

Entrez Gene cytogenetic band: 11q13.5-q14.1   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.5-q14.1

PLEKHB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLEKHB1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P073357:  view genomic region     (about GC identifiers)

Start:
 73,357,223 bp from pter      End:
 73,373,864 bp from pter
Size:
 16,642 bases      Orientation:
 plus strand

Proteins
for PLEKHB1 gene

(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: PKHB1_HUMAN, Q9UF11 (See protein sequence)
Recommended Name: Pleckstrin homology domain-containing family B member 1  
Size: 243 amino acids; 27186 Da
Subunit: Homodimer. Interacts (via PH domain) with MYO1C. Interacts (via PH domain) with MYO7A (By similarity). Binds
transducins
Subcellular location: Membrane. Cytoplasm (By similarity). Note=Localizes to the apical juxta-nuclear Golgi region of
the cytoplasm (By similarity). Membrane-associated. Highly expressed in the outer segments of photoreceptor cells,
both in rods and cones
Secondary accessions: A8K0Q5 B2RBP1 B7Z716 Q9UBF5 Q9UI37 Q9UI44
Alternative splicing: 4 isoforms:  Q9UF11-1   Q9UF11-2   Q9UF11-3   Q9UF11-4   

Explore the universe of human proteins at neXtProt for PLEKHB1: NX_Q9UF11

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UF11

    • PLEKHB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001123505.1  NP_001123506.1  NP_001123507.1  NP_001123508.1  NP_067023.1  

    ENSEMBL proteins: 
     ENSP00000346127   ENSP00000381505   ENSP00000440122   ENSP00000227214   ENSP00000381507  
     ENSP00000441224   ENSP00000443899   ENSP00000445990   ENSP00000439714   ENSP00000438809  
     ENSP00000445807   ENSP00000440076   ENSP00000444453   ENSP00000442136   ENSP00000442616  
     ENSP00000440102   ENSP00000441558   ENSP00000439984  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: PLEKHB1
    OriGene Protein Over-expression Lysate (see all 2): PLEKHB1
    OriGene Custom Protein Services for PLEKHB1 
    GenScript Custom Purified and Recombinant Proteins Services for PLEKHB1
    Novus Biologicals PLEKHB1 Proteins
    Novus Biologicals PLEKHB1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PLEKHB1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0016021integral to membrane IDA10585447


    PLEKHB1 for ontologies           About GeneDecksing



    PLEKHB1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: PLEKHB1
    OriGene Custom Antibody Services for PLEKHB1 
    GenScript Custom Superior Antibodies Services for PLEKHB1
    Novus Biologicals PLEKHB1 Antibodies
    Search for Antibodies for PLEKHB1 at Abcam  
    Uscn Antibodies for PLEKHB1
    ThermoFisher Antibodies for PLEKHB1

    Assay Products for PLEKHB1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PLEKHB1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PLEKHB1

    Protein Domains /
    Families
    for PLEKHB1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PLEKHB1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q9UF11

    ProtoNet protein and cluster: Q9UF11

    1 Blocks protein family: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: PKHB1_HUMAN, Q9UF11
    Similarity: Contains 1 PH domain


    Function
    for PLEKHB1 gene

    (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: PKHB1_HUMAN, Q9UF11
    Function: Required for proper localization of retinogeniculate projections but not for eye-specific segregation (By
    similarity)

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 5): PLEKHB1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLEKHB1
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate PLEKHB1:
    hsa-miR-141 hsa-miR-200a hsa-miR-664*
    SwitchGear 3'UTR luciferase reporter plasmid: PLEKHB1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLEKHB1 (see all 7)
    OriGene shRNA RFP: PLEKHB1
    OriGene siRNA: PLEKHB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLEKHB1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PLEKHB1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHB1 (see all 13)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHB1 (see all 5)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 5): PLEKHB1 (NM_001130034)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEKHB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHB1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for PLEKHB1
    Search LifeMap BioReagents cell lines for PLEKHB1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHB1

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS10585447
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
    GO:0008022protein C-terminus binding IEA--
    GO:0042803protein homodimerization activity IEA--


    PLEKHB1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PLEKHB1:
     Synthetic lethal with Ras 

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Plekhb1):
     normal 

    PLEKHB1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PLEKHB1 gene

    (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 PLEKHB1

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

    5/16 Interacting proteins for PLEKHB1 (Q9UF113 ENSP000003461274) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACVR1Q047713, ENSP000002636404I2D: score=4 STRING: ENSP00000263640
    GNGT1P632113, ENSP000002485724I2D: score=1 STRING: ENSP00000248572
    MYO7AQ134023, ENSP000003863314I2D: score=1 STRING: ENSP00000386331
    TGFBR1P368973, ENSP000003641334I2D: score=4 STRING: ENSP00000364133
    SMAD1Q157973, ENSP000003057694I2D: score=4 STRING: ENSP00000305769
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007275multicellular organismal development IEA--
    GO:0007602phototransduction NAS10585447
    GO:0045595regulation of cell differentiation IEA--


    PLEKHB1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PLEKHB1 gene

    (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 PLEKHB1
    Search CenterWatch for drugs/clinical trials and news about PLEKHB1 / PKHB1 

    Transcripts
    for PLEKHB1 gene

    (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 PLEKHB1 gene (5 alternative transcripts): 
    NM_001130033.1  NM_001130034.1  NM_001130035.1  NM_001130036.1  NM_021200.2  

    Unigene Cluster for PLEKHB1:

    Pleckstrin homology domain containing, family B (evectins) member 1
    Hs.445489  [show with all ESTs]
    Unigene Representative Sequence: U89715
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000354190(uc001oua.3) ENST00000398492(uc001oub.3) ENST00000536527
    ENST00000227214(uc010rrh.1 uc001oud.3 uc009ytq.3) ENST00000398494(uc001ouc.3)
    ENST00000543085 ENST00000544532 ENST00000545798 ENST00000539157 ENST00000546251
    ENST00000535582 ENST00000538227 ENST00000539549 ENST00000541760 ENST00000543524
    ENST00000541597 ENST00000535129 ENST00000542389

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 5): PLEKHB1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLEKHB1
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate PLEKHB1:
    hsa-miR-141 hsa-miR-200a hsa-miR-664*
    SwitchGear 3'UTR luciferase reporter plasmid: PLEKHB1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLEKHB1 (see all 7)
    OriGene shRNA RFP: PLEKHB1
    OriGene siRNA: PLEKHB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLEKHB1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHB1 (see all 13)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHB1 (see all 5)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 5): PLEKHB1 (NM_001130034)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEKHB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHB1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PLEKHB1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PLEKHB1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLEKHB1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLEKHB1

    Additional cDNA sequence: 

    AB209716.1 AF081583.1 AF093249.1 AF100612.1 AF101054.1 AK289620.1 AK289909.1 AK290109.1 
    AK296033.1 AK301299.1 AK311158.1 AK314748.1 BC008075.2 U89715.1 

    24/30 DOTS entries (see all 30):

    DT.75103321  DT.100826945  DT.97862096  DT.100826942  DT.75103322  DT.100826946  DT.95118213  DT.120678826 
    DT.120678790  DT.100826943  DT.120678788  DT.120678842  DT.40210732  DT.100826939  DT.100826940  DT.100826941 
    DT.120678795  DT.120678815  DT.120678820  DT.120678831  DT.120678839  DT.120678843  DT.205387  DT.218973 

    24/439 AceView cDNA sequences (see all 439):

    BU147299 AI417195 T34932 Z40616 AA857520 AW071980 BQ682450 H49984 
    N62154 CB153970 AI081726 AA339520 AA758433 AA814559 BE348520 CB153531 
    CB154534 BU177884 BM695468 H81819 T33755 BU728009 BU838159 CB152027 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHB1 (see all 15)    About this scheme

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

    ExUns: 13d · 13e · 13f · 13g · 13h · 13i
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for PLEKHB1

    Expression
    for PLEKHB1 gene

    (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

    PLEKHB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATAACAATTG

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

    PLEKHB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Long BoneBone
    BoneCaudal Endochondral BonesBone
    BoneEndochondral Facial BonesBone
    BoneStylopod Long BoneBone
    BoneThoracic RibBone
    BoneZeugopod Long BoneBone
    CartilageMeckel's CartilageCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PLEKHB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLEKHB1

    SOURCE GeneReport for Unigene cluster: Hs.445489

    UniProtKB/Swiss-Prot: PKHB1_HUMAN, Q9UF11
    Tissue specificity: Highly expressed in retina and brain. Levels are very low or not detectable in all other tissues
    tested

        SABiosciences Custom PCR Arrays for PLEKHB1
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PLEKHB1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PLEKHB1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLEKHB1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLEKHB1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHB1

    Orthologs
    for PLEKHB1 gene

    (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 PLEKHB1 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PLEKHB11 pleckstrin homology domain containing, family B (evectins) more 71.78(n)
    64.55(a)    		   419064  NM_001012546.1  NP_001012564.1 
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.147212 Transcribed sequence with weak similarity to protein more 76.28(n)    CF150842.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5666591 uncharacterized LOC566659 52.97(n)
    47.03(a)    		   566659  XM_003199372.1  XP_003199420.1 


    ENSEMBL Gene Tree for PLEKHB1 (if available)
    TreeFam Gene Tree for PLEKHB1 (if available) 

    Paralogs
    for PLEKHB1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PLEKHB1 gene
    PLEKHB22  
    1 SIMAP similar gene for PLEKHB1 using alignment to 14 protein entries:     PKHB1_HUMAN (see all proteins):
    PLEKHB2

    PLEKHB1 for paralogs           About GeneDecksing



    Genomic Variants
    for PLEKHB1 gene

    (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

    10/328 NCBI SNPs in PLEKHB1 are shown (see all 328)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs122850671,2
    		C,F,H,--69651865(+) TCCCCG/CCCCCT 2 -- us2k17Minor allele frequency- C:0.01NS EA NA WA 528
    rs5930561,2
    		C,F,--69651998(+) TTCCCG/CTCTTT 2 -- us2k14Minor allele frequency- C:0.40NA WA CSA 124
    rs5939271,2
    		C,F,A,H,--69652193(+) GCGGTA/TTGGGA 2 -- us2k114Minor allele frequency- T:0.11MN NA NS EA WA CSA 1042
    rs6401511,2
    		C,F,A,H,--69652299(+) GCCGAG/AGCGCG 2 -- us2k1 tfbs316Minor allele frequency- A:0.13NA NS EA WA 1104
    rs6401531,2
    		C,F,A,H,--69652301(+) CGAAGA/CGCGAG 2 -- us2k113Minor allele frequency- C:0.21NS EA NA WA 1584
    rs5948141,2
    		C,F,H,--69652412(+) CAGGCC/GAAAGA 2 -- ut5113Minor allele frequency- G:0.06MN NS EA NA WA 1672
    rs579538761,2
    		C,F,--69652567(+) TGAACC/GTAGGG 2 -- ut514Minor allele frequency- G:0.10WA CSA NA 242
    rs560128921,2
    		C,--69652845(+) GCACCA/CTTGCC 2 -- int10--------
    rs780198491,2
    		F,--69653213(+) GATGCC/ACTCCC 3 -- int1 us2k11Minor allele frequency- A:0.14WA 118
    rs6092181,2
    		C,F,A,H,--69653294(+) GGGGAA/CATTTC 3 -- us2k1 int117Minor allele frequency- C:0.18MN NA NS EA WA 2092

    HapMap Linkage Disequilibrium report for PLEKHB1 (73357223 - 73373864 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PLEKHB1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PLEKHB1
    DNA2.0 Custom Variant and Variant Library Synthesis for PLEKHB1

    Disorders / Diseases
    for PLEKHB1 gene

    (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
    PLEKHB1 for disorders           About GeneDecksing

    OMIM gene information: 607651    OMIM disorders: --

    2 diseases for PLEKHB1:    About MalaCards
    retinitis    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: PLEKHB1 (4 documents)

    Export disorders for PLEKHB1 gene to outside databases

    Publications
    for PLEKHB1 gene

    (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 PLEKHB1 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with PLEKHB1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segments. (PubMed id 10585447)1, 2, 3, 9 Xu S.... Valle D. (1999)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. KPL1, which encodes a novel PH domain-containing protein, is induced during ciliated cell differentiation of rat tracheal epithelial cells. (PubMed id 10923244)1, 2 Andrews K.L.... Ostrowski L.E. (2000)
    5. PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons. (PubMed id 20301200)1 Tan B....Valle D. (2010)
    6. Genome-wide copy number variation analysis in attenti on-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. (PubMed id 20308990)1 Lesch K.P....Ullmann R. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    8. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    9. High-throughput mapping of a dynamic signaling network in mammalian cells. (PubMed id 15761153)1 Barrios-Rodiles M....Wrana J.L. (2005)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for PLEKHB1 gene

    (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)

    Genome Databases showing PLEKHB1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 58473 HGNC: 19079 AceView: PLEKHB1 Ensembl:ENSG00000021300 euGenes: HUgn58473
    ECgene: PLEKHB1 H-InvDB: PLEKHB1

    Other Databases showing PLEKHB1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PLEKHB1 gene

    (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 PLEKHB1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PLEKHB1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PLEKHB1 gene:
    Search GeneIP for patents involving PLEKHB1

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



    Products
    for PLEKHB1 gene

    (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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for PLEKHB1   OriGene shRNA RFP for PLEKHB1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLEKHB1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PLEKHB1  
     OriGene Protein Over-expression Lysate for PLEKHB1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for PLEKHB1   OriGene 3'-UTR Clone for PLEKHB1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHB1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHB1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for PLEKHB1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PLEKHB1   OriGene Custom Protein Services for PLEKHB1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PLEKHB1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PLEKHB1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLEKHB1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLEKHB1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLEKHB1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLEKHB1
     GenScript Custom Purified and Recombinant Proteins Services for PLEKHB1 GenScript cDNA clones with any tag delivered in your preferred vector for PLEKHB1
     GenScript Custom Assay Services for PLEKHB1 GenScript Custom Superior Antibodies Services for PLEKHB1
     GenScript Custom overexpressing Cell Line Services for PLEKHB1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PLEKHB1 promoter
     Search Chromatin IP Primers for PLEKHB1
     RT2 qPCR Primer Assay in human, mouse, rat PLEKHB1
     Search GNC Networks for PLEKHB1
     SABiosciences Custom PCR Arrays for PLEKHB1
     Search Tocris compounds for PLEKHB1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PLEKHB1 antibodies
     PLEKHB1 proteins
     PLEKHB1 lysates
     Search for Antibodies for PLEKHB1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for PLEKHB1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     PLEKHB1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for PLEKHB1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHB1
     SwitchGear 3'UTR luciferase reporter plasmids for PLEKHB1
     SwitchGear Promoter luciferase reporter plasmids for PLEKHB1
     ThermoFisher Antibodies for PLEKHB1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHB1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      PLEKHB1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4