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CDC5L Gene

protein-coding   GIFtS: 63
GCID: GC06P044402

Cell Division Cycle 5-Like

(Previous names: CDC5 (cell division cycle 5, S. pombe, homolog)-like, CDC5...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cell Division Cycle 5-Like1 2     CDC5 Cell Division Cycle 5-Like2
Pombe Cdc5-Related Protein2 3     Cdc5-Related Protein2
PCDC5RP2 3     Cell Division Cycle 5-Like Protein2
CDC5 (Cell Division Cycle 5, S. Pombe, Homolog)-Like1     dJ319D22.12
CDC5 Cell Division Cycle 5-Like (S. Pombe)1     DJ319D22.1 (CDC5-Like Protein)2
CDC52     KIAA04323
CDC5-LIKE2     Cdc5-Like Protein3
CEF12     

External Ids:    HGNC: 17431   Entrez Gene: 9882   Ensembl: ENSG000000964017   OMIM: 6028685   UniProtKB: Q994593   

Export aliases for CDC5L gene to outside databases

Previous GC identifers: GC06P044357 GC06P044463 GC06P044078


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CDC5L Gene:
The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product,
which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a
positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA
spliceosome, which contains at least five additional protein factors and is required for the second catalytic
step of pre-mRNA splicing. (provided by RefSeq, Jul 2008)

GeneCards Summary for CDC5L Gene:
CDC5L (cell division cycle 5-like) is a protein-coding gene. Diseases associated with CDC5L include cystoisosporiasis, and poikiloderma with neutropenia. GO annotations related to this gene include WD40-repeat domain binding and RNA binding.

UniProtKB/Swiss-Prot: CDC5L_HUMAN, Q99459
Function: DNA-binding protein involved in cell cycle control. May act as a transcription activator. Component of
the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA
splicing

Gene Wiki entry for CDC5L 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDC5L gene promoter:
         HFH-3   AML1a   Tal-1beta   HNF-1A   E47   FOXI1   AREB6   Hand1   ITF-2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDC5L promoter sequence
   Search Chromatin IP Primers for CDC5L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDC5L


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

Entrez Gene cytogenetic band: 6p21   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

CDC5L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDC5L gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P044402:  view genomic region     (about GC identifiers)

Start:
44,355,262 bp from pter      End:
44,418,163 bp from pter
Size:
62,902 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CDC5L_HUMAN, Q99459 (See protein sequence)
Recommended Name: Cell division cycle 5-like protein  
Size: 802 amino acids; 92251 Da
Subunit: Homodimer. Interacts with DAPK3 (By similarity). Binds DNA. Binds to adeno-pre-mRNA in an ATP-stimulated
manner. Belongs to the spliceosome complex. Part of a spliceosomal 'core' complex consisting of CDC5L, PLRG1,
SPF27, CCAP1, CCAP3 and CCAP6. Interacts with PLRG1, Lodestar/TTF2, and NIPP1/PPP1R8. Identified in the
spliceosome C complex. Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a
homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15
and HSPA8. Interacts (via its C-terminus) directly in the complex with PRPF19 and BCAS2. Interacts (via its
C-terminus) directly with PRGL1 (via its WD40 repeat domain); the interaction is required for mRNA splicing but
not for spliceosome assembly. Also interacts with CTNNBL1
Sequence caution: Sequence=BAA24862.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for CDC5L:
2DIM (3D)        2DIN (3D)    
Secondary accessions: Q76N46 Q99974

Explore the universe of human proteins at neXtProt for CDC5L: NX_Q99459

Explore proteomics data for CDC5L at MOPED

Post-translational modifications: 

  • Phosphorylated on serine and threonine residues. Phosphorylation on Thr-411 and Thr-438 is required for
    CDC5L-mediated mRNA splicing. Has no effect on subcellular location nor on homodimerization. Phosphorylated in
    vitro by CDK2. Phosphorylation enhances interaction with PPP1R81
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CDC5L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001244.1  
    ENSEMBL proteins: 
     ENSP00000360532  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001005 SANT/Myb
     IPR017930 Myb_dom
     IPR021786 DUF3351
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q99459

    ProtoNet protein and cluster: Q99459

    UniProtKB/Swiss-Prot: CDC5L_HUMAN, Q99459
    Similarity: Belongs to the CEF1 family
    Similarity: Contains 2 HTH myb-type DNA-binding domains


    CDC5L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CDC5L_HUMAN, Q99459
    Function: DNA-binding protein involved in cell cycle control. May act as a transcription activator. Component of
    the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA
    splicing

         Genatlas biochemistry entry for CDC5L:
    protein,homolog to yeast CDC5-like-sequence,Myb-related,nuclear protein localizing in the nuclear speckles
    colocalizing,associating with core complements of the splicing machinery in nuclear extracts and interacting with
    the spliceoform,required for the pre-mRNA splicing,involved in the cell cycle essential for G2/M
    progression,disrupted in translocation t(6;19) (p21;q13.1) with multicystic renal dysplasia (see also PUJO)
    ubiquitously expressed in adult and fetal tissue

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS8917598
    GO:0003682chromatin binding IEA--
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI15232106
    GO:0019904protein domain specific binding ----
         
    CDC5L for ontologies           About GeneDecksing


    Phenotypes:
         11 GenomeRNAi human phenotypes for CDC5L:
     Decreased Hepatitis C virus re  Decreased viability  Decreased viability of wild-ty  Increased G2M DNA content, inc 
     Increased cell death HMECs cel  Increased cell death in breast  Increased cell number in G2M,   Increased gamma-H2AX phosphory 
     Increased number of mitotic ce  Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CDC5L
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CDC5L
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CDC5L

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for CDC5L (see all 392):
    AADACL2,  AADACL4,  AASS,  ACAT1,  ACVR1C,  ADAM32,  ADAMTS16,  ADAMTS7,  ADAMTSL5,  ADH7

    miRNA
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    miRTarBase miRNAs that target CDC5L:
    hsa-let-7e-5p (MIRT051492), hsa-mir-130b-5p (MIRT038288), hsa-mir-34a-5p (MIRT025505), hsa-mir-7-1-3p (MIRT038678), hsa-mir-505-3p (MIRT041014), hsa-mir-16-5p (MIRT031890)

    Block miRNA regulation of human, mouse, rat CDC5L using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidCDC5L 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CDC5L

    Gene Editing
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CDC5L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDC5L

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDC5L


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CDC5L_HUMAN, Q99459: Nucleus. Nucleus speckle. Cytoplasm. Note=May shuttle between cytoplasm and nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000974Prp19 complex IDA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0016607nuclear speck IDA16332694

    CDC5L for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CDC5L About    
    See pathways by source

    SuperPathContained pathways About
    1Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for CDC5L):
        Spliceosome


    CDC5L for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CDC5L
    Interactions:

        GeneGlobe Interaction Network for CDC5L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CDC5L (Q994591, 2, 3 ENSP000003605324) via UniProtKB, MINT, STRING, and/or I2D (see all 1022)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HNRNPMP522721, 2, 3, ENSP000003253764EBI-374880,EBI-486809 MINT-7979380 MINT-7947479 MINT-7979371 MINT-7979408 MINT-7979507 MINT-7945693 MINT-7979447 MINT-7979521 I2D: score=1 STRING: ENSP00000325376
    PRPF19Q9UMS41, 2, 3, ENSP000002275244EBI-374880,EBI-395746 MINT-7945693 MINT-7262095 MINT-7947479 I2D: score=2 STRING: ENSP00000227524
    PLRG1O436601, 2, 3, ENSP000003031914EBI-374880,EBI-1051504 MINT-7979491 MINT-7945693 MINT-7947479 I2D: score=12 STRING: ENSP00000303191
    ORC2Q134161, 2, 3, ENSP000002342964EBI-374880,EBI-374957 MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000234296
    SF3A2Q154281, 2, 3, ENSP000002214944EBI-374880,EBI-2462271 MINT-5205935 MINT-7947479 I2D: score=1 STRING: ENSP00000221494
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome IC11991638
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0007049cell cycle IEA--
    GO:0008380RNA splicing ----

    CDC5L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CDC5L



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CDC5L gene: 
    NM_001253.3  

    Unigene Cluster for CDC5L:

    Cell division cycle 5-like
    Hs.485471  [show with all ESTs]
    Unigene Representative Sequence: NM_001253
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000371477(uc003oxl.3)
    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CDC5L
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      QuantiTect SYBR Green Assays in human, mouse, rat CDC5L
      QuantiFast Probe-based Assays in human, mouse, rat CDC5L

    Additional mRNA sequence: 

    AB007892.2 AK128737.1 AK299738.1 BC001568.1 D85423.1 U86753.1 

    11 DOTS entries:

    DT.100769379  DT.216850  DT.75149383  DT.121344629  DT.91919529  DT.95115992  DT.40229331  DT.100815803 
    DT.91771816  DT.97858958  DT.99944468 

    Selected AceView cDNA sequences (see all 248):

    BE275179 BM969643 AA604824 AU131684 BC001568 F09494 BU623810 NM_001253 
    AA621872 CB044282 BU789615 BM834441 AA749378 AA305877 CB305758 AI431405 
    CA448370 CB144032 BP353743 AK128737 BX331396 BP373966 BQ009652 AI673792 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CDC5L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGATTCTGC
    CDC5L Expression
    About this image


    CDC5L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Bone marrow-derived hematopoietic stem cells (family)
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    CDC5L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDC5L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485471

    UniProtKB/Swiss-Prot: CDC5L_HUMAN, Q99459
    Tissue specificity: Ubiquitously expressed in both fetal and adult tissues

        Custom PCR Arrays for CDC5L
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    QuantiFast Probe-based Assays in human, mouse, rat CDC5L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDC5L

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CDC5L gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdc5l1 , 5 cell division cycle 5-like (S. pombe)1, 5 89.69(n)1
    98(a)1
      17 (22.36 cM)5
    717021  NM_152810.21  NP_690023.11 
     453918925 
    chicken
    (Gallus gallus)
    Aves CDC5L1 CDC5 cell division cycle 5-like (S. pombe) 80.9(n)
    91.89(a)
      422052  XM_420058.4  XP_420058.4 
    lizard
    (Anolis carolinensis)
    Reptilia CDC5L6
    cell division cycle 5-like
    91(a)
    1 ↔ 1
    1(139402674-139446390)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU916302.12   -- 81.76(n)    BU916302.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC044511.12   -- 74.61(n)   394059  BC044511.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69051 , 3 mRNA splicing pre-mRNA splicing factor3
    CG69051
    62(a)3
    60.08(n)1
    66.11(a)1
      61C13
    380621  NM_001169842.21  NP_001163313.11 
    worm
    (Caenorhabditis elegans)
    Secernentea D1081.81 D1081.8 57.38(n)
    54.29(a)
      172639  NM_059902.5  NP_492303.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CEF1(YMR213W)4 Essential splicing factor; associated with Prp19p and more   --   13(693381-695153) 855253  NP_013940.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CDC51 CDC5 54.64(n)
    48.64(a)
      837506  NM_100849.2  NP_172448.1 
    rice
    (Oryza sativa)
    Liliopsida AK102248.12   -- 74.46(n)    AK102248.1 


    ENSEMBL Gene Tree for CDC5L (if available)
    TreeFam Gene Tree for CDC5L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CDC5L (see all 1304)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1393246331,2
    --44353429(+) TGTTCC/TCAGAA 1 -- us2k10--------
    rs1489863341,2
    --44353432(+) TCTCAA/GAACAC 1 -- us2k10--------
    rs94629841,2
    C,F--44353447(+) ATTTTA/GTGACA 1 -- us2k112Minor allele frequency- G:0.45NS NA WA CSA EA 511
    rs1908636971,2
    --44353709(+) AAGGAC/GAGGAA 1 -- us2k10--------
    rs115718891,2
    C,F,H--44353837(+) GGTGTC/TACGTG 1 -- us2k1 tfbs315Minor allele frequency- T:0.04NS EA NA WA 2182
    rs115718901,2
    C,F--44353901(+) ATCTCG/AAAGAC 1 -- us2k12Minor allele frequency- A:0.04NS WA 292
    rs115718911,2
    C,F--44353952(+) TAATTT/CAATTG 1 -- us2k11Minor allele frequency- C:0.01NS 174
    rs1820430481,2
    --44354112(+) TGTACC/TATGTA 1 -- us2k10--------
    rs1481158621,2
    --44354151(+) AAAAAA/CACCGC 1 -- us2k10--------
    rs115718921,2
    C,F--44354188(+) AACATT/CTTGTT 1 -- us2k12Minor allele frequency- C:0.04NS WA 290

    HapMap Linkage Disequilibrium report for CDC5L (44355262 - 44418163 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CDC5L:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1198309CNV Deletion17803354
    nsv885859CNV Loss21882294
    nsv885858CNV Gain+Loss21882294
    nsv517370CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CDC5L
    DNA2.0 Custom Variant and Variant Library Synthesis for CDC5L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602868    OMIM disorders: --

    UniProtKB/Swiss-Prot: CDC5L_HUMAN, Q99459
  • Note=A chromosomal aberration involving CDC5L is found in multicystic renal dysplasia. Translocation
    t(6;19)(p21;q13.1) with USF2

  • 17 diseases for CDC5L:    
    About MalaCards
    cystoisosporiasis    poikiloderma with neutropenia    renal dysplasia    neutropenia
    amyotrophic lateral sclerosis    lateral sclerosis    osteoarthritis    osteosarcoma
    schizophrenia    tonsillitis    hiv-1    multiple myeloma
    myeloma    thyroiditis    cerebritis    prostatitis
    malaria

    1 disease from the University of Copenhagen DISEASES database for CDC5L:
    Cystoisosporiasis

    CDC5L for disorders           About GeneDecksing

    Genetic Association Database (GAD): CDC5L
    Human Genome Epidemiology (HuGE) Navigator: CDC5L (2 documents)

    Export disorders for CDC5L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CDC5L gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with CDC5L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. (PubMed id 9598309)1, 2, 3, 9 Groenen P.M.A....Van de Ven W.J.M. (Genomics 1998)
    2. Pombe Cdc5-related protein. A putative human transcription factor implicated in mitogen-activated signaling. (PubMed id 9038199)1, 2, 3, 9 Bernstein H.S. and Coughlin S.R. (J. Biol. Chem. 1997)
    3. Cell cycle-dependent phosphorylation of human CDC5 regulates RNA processing. (PubMed id 18583928)1, 2, 9 Graub R.... Bernstein H.S. (Cell Cycle 2008)
    4. A direct interaction between the carboxyl-terminal region of CDC5L and the WD40 domain of PLRG1 is essential for pre-mRNA splicing. (PubMed id 11544257)1, 2, 9 Ajuh P.... Lamond A.I. (J. Biol. Chem. 2001)
    5. Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry. (PubMed id 11101529)1, 2, 9 Ajuh P....Lamond A.I. (EMBO J. 2000)
    6. A cdc5+ homolog of a higher plant, Arabidopsis thaliana. (PubMed id 8917598)1, 2, 9 Hirayama T. and Shinozaki K. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    7. CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31. (PubMed id 21385873)1, 2 Ganesh K.... Neuberger M. (J. Biol. Chem. 2011)
    8. Molecular architecture of the human Prp19/CDC5L complex. (PubMed id 20176811)1, 2 Grote M.... Luhrmann R. (Mol. Cell. Biol. 2010)
    9. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    10. Interaction between antibody-diversification enzyme AID and spliceosome-associated factor CTNNBL1. (PubMed id 18722174)1, 2 Conticello S.G.... Neuberger M.S. (Mol. Cell 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 988 HGNC: 1743 AceView: CDC5L Ensembl:ENSG00000096401 euGenes: HUgn988
    ECgene: CDC5L Kegg: 988 H-InvDB: CDC5L

    (According to HUGE)
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    HUGE: KIAA0432

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CDC5L Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cdc5l/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CDC5L gene:
    Search GeneIP for patents involving CDC5L

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



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