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CNTRL Gene

protein-coding   GIFtS: 50
GCID: GC09P123839

Centriolin

(Previous names: centrosomal protein 1, centrosomal protein 110kDa)
(Previous symbols: CEP1, CEP110)
  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
centriolin1 2     110 KDa Centrosomal Protein2
CEP11 2 3 5     bA165P4.12
CEP1101 2 3 5     BA165P4.1 (Ortholog Of Mouse Ma2a8)2
Centrosomal Protein 110kDa1 2     BA165P4.2 (Centrosomal Protein 1)2
Centrosomal Protein 11 3     Centriole Associated Protein2
Centrosomal Protein Of 110 KDa2 3     Cep1103
FAN2 5     

External Ids:    HGNC: 18581   Entrez Gene: 110642   Ensembl: ENSG000001193977   OMIM: 6054965   UniProtKB: Q7Z7A13   

Export aliases for CNTRL gene to outside databases


(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 CNTRL Gene:
This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing
center. The gene product is also associated with centrosome maturation. One version of stem cell
myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the
breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. (provided by RefSeq,
Jul 2008)

GeneCards Summary for CNTRL Gene:
CNTRL (centriolin) is a protein-coding gene. Diseases associated with CNTRL include 8p11 myeloproliferative syndrome, and myeloproliferative disorder. An important paralog of this gene is LRRC48.

UniProtKB/Swiss-Prot: CNTRL_HUMAN, Q7Z7A1
Function: Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors
exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission

Gene Wiki entry for CNTRL 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_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CNTRL
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNTRL promoter sequence
   Search Chromatin IP Primers for CNTRL

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


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

Entrez Gene cytogenetic band: 9q33.2   Ensembl cytogenetic band:  9q33.2   HGNC cytogenetic band: 9q33.2

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P123839:  view genomic region     (about GC identifiers)

Start:
123,837,141 bp from pter      End:
123,939,888 bp from pter
Size:
102,748 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CNTRL_HUMAN, Q7Z7A1 (See protein sequence)
Recommended Name: Centriolin  
Size: 2325 amino acids; 268886 Da
Subunit: Interacts with HOOK2. Interacts with EXOC6 and SNAPIN. Associates with the exocyst complex
Sequence caution: Sequence=AAH02932.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH02932.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Sequence=AAH89415.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Secondary accessions: A2A2Y1 B2RP67 Q3MN79 Q5FWF8 Q5JVD0 Q6MZR3 Q6PKC1 Q8TEP3 Q9Y489
Alternative splicing: 5 isoforms:  Q7Z7A1-1   Q7Z7A1-2   Q7Z7A1-3   Q7Z7A1-4   Q7Z7A1-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CNTRL: NX_Q7Z7A1

Explore proteomics data for CNTRL at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys101, Lys1170
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_008949.4  
    ENSEMBL proteins: 
     ENSP00000362972   ENSP00000362962   ENSP00000362956   ENSP00000362953   ENSP00000413014  
     ENSP00000362950   ENSP00000238341  
    Reactome Protein details: Q7Z7A1

    CNTRL Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR028640 CEP110
     IPR001611 Leu-rich_rpt

    Graphical View of Domain Structure for InterPro Entry Q7Z7A1

    ProtoNet protein and cluster: Q7Z7A1

    UniProtKB/Swiss-Prot: CNTRL_HUMAN, Q7Z7A1
    Similarity: Contains 4 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain


    CNTRL 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: CNTRL_HUMAN, Q7Z7A1
    Function: Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors
    exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI17140400
         
    CNTRL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CNTRL:
     Increased number of cells in m 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cep110):
     cardiovascular system  renal/urinary system 

    CNTRL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNTRL
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    miRNA
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    miRTarBase miRNAs that target CNTRL:
    hsa-mir-26b-5p (MIRT029815), hsa-let-7a-5p (MIRT052504), hsa-mir-21-5p (MIRT030875)

    Block miRNA regulation of human, mouse, rat CNTRL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNTRL (see all 17):
    hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-3121-3p hsa-miR-98 hsa-miR-1294
    SwitchGear 3'UTR luciferase reporter plasmidCNTRL 3' UTR sequence
    Inhib. RNA
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    (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
    CNTRL_HUMAN, Q7Z7A1: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=During cytokinesis,
    localizes to a ring-like structure at the central midbody

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--

    CNTRL 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 CNTRL About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    2Signaling by FGFR1 mutants
    Signaling by FGFR1 mutants0.67
    Signaling by FGFR1 fusion mutants0.00
    Signaling by FGFR mutants0.67
    3Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90
    4Signaling by FGFR
    Signaling by FGFR in disease0.91
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for CNTRL
        Recruitment of mitotic centrosome proteins and complexes
    Loss of proteins required for interphase microtubule organization,from the centrosome
    Regulation of PLK1 Activity at G2/M Transition
    Loss of Nlp from mitotic centrosomes



    CNTRL for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for CNTRL

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

    Selected Interacting proteins for CNTRL (Q7Z7A13 ENSP000002383414) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAXXQ9UER73I2D: score=2 
    ENSG00000206206Q9UER73I2D: score=2 
    ENSG00000206279Q9UER73I2D: score=2 
    ENSG00000227046Q9UER73I2D: score=2 
    ENSG00000231617Q9UER73I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0051301cell division IEA--

    CNTRL 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 CNTRL



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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 CNTRL gene: 
    NM_007018.4  

    Unigene Cluster for CNTRL:

    Centriolin
    Hs.653263  [show with all ESTs]
    Unigene Representative Sequence: NM_007018
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373865 ENST00000373855(uc004bkw.2) ENST00000468952 ENST00000373851(uc004bky.1)
    ENST00000373850(uc010mvo.1) ENST00000373847(uc004bkz.1 uc004bla.1)
    ENST00000431571 ENST00000373845(uc004blb.1 uc010mvp.1) ENST00000373844
    ENST00000491018 ENST00000238341(uc004bkx.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat CNTRL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNTRL (see all 17):
    hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-3121-3p hsa-miR-98 hsa-miR-1294
    SwitchGear 3'UTR luciferase reporter plasmidCNTRL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CNTRL
    Predesigned siRNA for gene silencing in human, mouse, rat CNTRL
    Clone
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    OriGene qSTAR qPCR primer pairs in human, mouse for CNTRL
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      QuantiTect SYBR Green Assays in human, mouse, rat CNTRL
      QuantiFast Probe-based Assays in human, mouse, rat CNTRL

    Additional mRNA sequence: 

    AF083322.1 AF513978.1 AK074079.1 AK090600.1 AK093457.1 AK097636.1 AK128098.1 AK297330.1 
    AK307387.1 AL080231.1 AY651261.1 BC002932.2 BC009287.2 BC089415.1 BC137284.1 BC137286.1 
    BX640927.1 

    19 DOTS entries:

    DT.70102268  DT.100648129  DT.65284312  DT.92421431  DT.100021561  DT.413361  DT.100021562  DT.95166818 
    DT.100648127  DT.121202661  DT.40307806  DT.95068955  DT.40119812  DT.86847557  DT.70105064  DT.121202655 
    DT.121202694  DT.91747844  DT.95229727 

    Selected AceView cDNA sequences (see all 167):

    BM698728 CA449870 AA490917 NM_007018 AW665294 CB146267 CR601314 AW290995 
    AA458839 AI141008 BX099317 AA398748 BM727352 AA641798 AI223405 BE464618 
    AK128098 AK097636 AU185066 AW339530 AA748824 N92100 BF516193 AK093457 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CNTRL (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c ^ 19a · 19b ^
    SP1:                          -     -                                         -                                               -     -                           
    SP2:                                                                                                                                                            
    SP3:                                                                          -                                               -     -                           
    SP4:                          -     -                                         -                                                                                 
    SP5:                                                                                                                          -     -                           

    ExUns: 20a · 20b ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36
    SP1:  -                       -                                                                                                         
    SP2:  -                       -                                               -                                                         
    SP3:  -                                                                                                                                 
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for CNTRL

    (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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    CNTRL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTGACTGAT
    CNTRL Expression
    About this image


    CNTRL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood
     
     Testis (Reproductive System)
    CNTRL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNTRL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.653263

    UniProtKB/Swiss-Prot: CNTRL_HUMAN, Q7Z7A1
    Tissue specificity: Highly expressed in testis and trachea

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTRL

    (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 animals and fungi.

    Orthologs for CNTRL gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep1101 , 5 centrosomal protein 1101, 5 82.88(n)1
    81.31(a)1
      2 (23.36 cM)5
    269201  NM_012018.21  NP_036148.21 
     351094925 
    chicken
    (Gallus gallus)
    Aves CNTRL6
    centriolin
    57(a)
    1 ↔ 1
    17(8344384-8375229)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    67(a)
    57(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    AAWZ02035066(15638-21247)
    AAWZ02035066(30842-42749)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.65322 Xenopus laevis transcribed sequences 74.75(n)    BG513327.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003342591 centriolin-like 52.47(n)
    42(a)
      100334259  XM_002667149.3  XP_002667195.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SDS226
    Conserved nuclear regulatory subunit of Glc7p type...
    19(a)
    1 → many
    XI(78866-79882) YKL193C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNTRL gene
    LRRC482  PPP1R72  DNAAF12  LRRC92  LRRC492  
    3 SIMAP similar genes for CNTRL using alignment to 7 protein entries:     CNTRL_HUMAN (see all proteins):
    CEP110    LRRC6    LRRC48

    CNTRL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), 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 CNTRL (see all 1849)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1431568861,2
    C--123848603(+) CAAACC/TGATTA 1 -- us2k10--------
    rs1882444431,2
    --123848693(+) GAAGAA/GGCAAC 1 -- us2k10--------
    rs1930805441,2
    --123848787(+) CAGTGC/TGACTG 1 -- us2k10--------
    rs109851471,2
    C,A--123848836(+) TAGAGC/G/TAATAG 1 -- us2k14NA WA EA 360
    rs109851481,2
    C,F,A,H--123848837(+) AGAGCG/AATAGG 1 -- us2k120Minor allele frequency- A:0.07NS EA NA WA CSA 2092
    rs3773887381,2
    C--123848910(+) GATTT-/ACTTTTT 1 -- us2k10--------
    rs1112452771,2
    C,F--123848951(+) TCTCGC/TTCTGT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1401629801,2
    --123848982(+) GGCGCA/GATCTA 1 -- us2k10--------
    rs1499082171,2
    --123849139(+) TTGGCC/TAGGCT 1 -- us2k10--------
    rs1449637051,2
    C--123849156(+) AAACTC/TCTGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CNTRL (123837141 - 123939888 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CNTRL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656882CNV Deletion23128226
    esv2671048CNV Deletion23128226
    esv1148139CNV Deletion17803354
    esv2675601CNV Deletion23128226
    esv2738999CNV Deletion23290073
    esv23303CNV Loss19812545
    nsv825071CNV Loss20364138

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605496    OMIM disorders: --

    UniProtKB/Swiss-Prot: CNTRL_HUMAN, Q7Z7A1
  • Note=A chromosomal aberration involving CEP110 may be a cause of stem cell myeloproliferative disorder
    (MPD). Translocation t(8;9)(p12;q33) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and
    T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein
    CEP110-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the
    transforming activity

  • 12 diseases for CNTRL:    
    About MalaCards
    8p11 myeloproliferative syndrome    myeloproliferative disorder    lymphoblastic lymphoma    smallpox
    eosinophilia    fanconi's anemia    acute myeloid leukemia    myeloid leukemia
    leukemia    multiple myeloma    myeloma    breast cancer


    CNTRL for disorders           About GeneDecksing


    Export disorders for CNTRL 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 CNTRL gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with CNTRL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). (PubMed id 10688839)1, 2, 3 Guasch G.... Pebusque M.-J. (Blood 2000)
    2. Centriolin anchoring of exocyst and SNARE complexes at the midbody is required for secretory-vesicle-mediated abscission. (PubMed id 16213214)1, 2, 9 Gromley A.... Doxsey S.J. (Cell 2005)
    3. A novel human protein of the maternal centriole is required for the final stages of cytokinesis and entry into S phase. (PubMed id 12732615)1, 2, 9 Gromley A.... Doxsey S.J. (J. Cell Biol. 2003)
    4. Hook2 localizes to the centrosome, binds directly to centriolin/CEP110 and contributes to centrosomal function. (PubMed id 17140400)1, 2 Szebenyi G.... Kraemer H. (Traffic 2007)
    5. Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia. (PubMed id 16112646)1, 2 Guinn B.-A.... Mufti G.J. (Biochem. Biophys. Res. Commun. 2005)
    6. CEP110 and ninein are located in a specific domain of the centrosome associated with centrosome maturation. (PubMed id 11956314)1, 2 Ou Y.Y.... Rattner J.B. (J. Cell Sci. 2002)
    7. Dysregulated signaling pathways in the development of CNTRL-FGFR1-induced myeloid and lymphoid malignancies associated with FGFR1 in human and mouse models. (PubMed id 23777766)1 Ren M....Cowell J.K. (Blood 2013)
    8. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (Hum. Genet. 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (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: 11064 HGNC: 1858 AceView: CEP1 Ensembl:ENSG00000119397 euGenes: HUgn11064
    ECgene: CNTRL H-InvDB: CNTRL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CNTRL Pharmacogenomics, SNPs, Pathways

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

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



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