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

CEP164 Gene

protein-coding   GIFtS: 56
GCID: GC11P117198

centrosomal protein 164kDa

 Explore 1 disease affiliated with
CEP164 via our new
 Human Malady Compendium 
Biological research products
for CEP164
    

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

Aliases
Centrosomal Protein 164kDa1 2
NPHP151 2 3
KIAA10521 3
Centrosomal Protein Of 164 KDa2
Cep1643

External Ids:    HGNC: 291821   Entrez Gene: 228972   Ensembl: ENSG000001102747   OMIM: 6148485   UniProtKB: Q9UPV03   

Export aliases for CEP164 gene to outside databases

Previous GC identifers: GC11P116704 GC11P113132


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

Entrez Gene summary for CEP164:
This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome
segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects
in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Dec 2012)

UniProtKB/Swiss-Prot: CE164_HUMAN, Q9UPV0
Function: Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a
microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M
checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is
required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome
segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA
and CHEK1

Gene Wiki entry for CEP164


(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_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CEP164 gene promoter:
         p53   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP164 promoter sequence
   Search SABiosciences Chromatin IP Primers for CEP164

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP164


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

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

CEP164 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP164 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P117198:  view genomic region     (about GC identifiers)

Start:
117,185,273 bp from pter      End:
117,283,984 bp from pter
Size:
98,712 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CE164_HUMAN, Q9UPV0 (See protein sequence)
Recommended Name: Centrosomal protein of 164 kDa  
Size: 1460 amino acids; 164314 Da
Subunit: Interacts (via N-terminus) with ATRIP. Interacts with ATM, ATR and MDC1. Interacts with XPA (via N-terminus)
upon UV irradiation. Interacts with CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4
Subcellular location: Cytoplasm, cytoskeleton, centrosome, centriole. Nucleus. Note=Localizes specifically to very
distally located appendage structures on the mature centriole from which initiate PC formation. Persisted at
centrioles throughout mitosis. Expressed in chromatin-enriched nuclear fraction of HeLa cells. In response to DNA
damage, it translocates to nuclear foci that contain the DNA damage response proteins KAT5/TIP60 and CHEK1
Sequence caution: Sequence=AAH00602.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A
sequence; Sequence=AAH54015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Sequence=BAA83004.2; Type=Erroneous initiation; Sequence=BAA91677.1; Type=Erroneous initiation; Sequence=CAB56023.1;
Type=Erroneous initiation;
Secondary accessions: Q6PKH9 Q7Z2X9 Q9NVS0 Q9UFJ6
Alternative splicing: 2 isoforms:  Q9UPV0-1   Q9UPV0-2   

Explore the universe of human proteins at neXtProt for CEP164: NX_Q9UPV0

Post-translational modifications:

  • Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation,
  • hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced
    phosphorylation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UPV0

  • CEP164 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258862.1  NP_055771.4  

    ENSEMBL proteins: 
     ENSP00000436609   ENSP00000436034   ENSP00000278935   ENSP00000435759   ENSP00000436351  
     ENSP00000431302   ENSP00000436551  
    Reactome Protein details: Q9UPV0
    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: CEP164
    OriGene Custom Protein Services for CEP164 
    GenScript Custom Purified and Recombinant Proteins Services for CEP164
    Novus Biologicals CEP164 Protein
    Novus Biologicals CEP164 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CEP164

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005814centriole IEA--


    CEP164 for ontologies           About GeneDecksing



    CEP164 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: CEP164
    OriGene Custom Antibody Services for CEP164 
    GenScript Custom Superior Antibodies Services for CEP164
    Novus Biologicals CEP164 Antibodies
    Search for Antibodies for CEP164 at Abcam  
    Uscn Antibodies for CEP164
    ThermoFisher Antibodies for CEP164

    Assay Products for CEP164: 
    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 CEP164
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CEP164


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

    CEP164 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001202 WW_Rsp5_WWP

    Graphical View of Domain Structure for InterPro Entry Q9UPV0

    ProtoNet protein and cluster: Q9UPV0

    UniProtKB/Swiss-Prot: CE164_HUMAN, Q9UPV0
    Similarity: Contains 1 WW domain


    (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: CE164_HUMAN, Q9UPV0
    Function: Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a
    microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M
    checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is
    required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome
    segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA
    and CHEK1

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: CEP164
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CEP164
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate CEP164 (see all 15):
    hsa-miR-4324 hsa-miR-98 hsa-miR-4254 hsa-miR-769-5p hsa-let-7d hsa-miR-202 hsa-miR-4268 hsa-let-7c
    SwitchGear 3'UTR luciferase reporter plasmidCEP164 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 CEP164 (see all 4)
    OriGene shRNA RFP: CEP164
    OriGene siRNA: CEP164
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CEP164

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CEP164

    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 CEP164 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CEP164
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CEP164 (NM_014956)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CEP164
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP164 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CEP164
    Search LifeMap BioReagents cell lines for CEP164

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP164

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    CEP164 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for CEP164:
     Abundance of large cells with   Increased S DNA content 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Recruitment of mitotic centrosome proteins and complexes
    Centrosome maturation1.00
    Mitotic G2-G2/M phases0.81
    Recruitment of mitotic centrosome proteins and complexes1.00
    Loss of proteins required for interphase microtubule organization from the centrosome0.78
    G2/M Transition0.83
    Loss of Nlp from mitotic centrosomes0.78
    2Cell Cycle
    Cell Cycle1.00
    Cell Cycle, Mitotic0.84

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for CEP164 (see all 8)
        Centrosome maturation
    Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    G2/M Transition
    Loss of proteins required for interphase microtubule organization from the centrosome



    CEP164 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEP164

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

    5/76 Interacting proteins for CEP164 (Q9UPV01, 3 ENSP000002789354) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATRQ135353, ENSP000003437414I2D: score=1 STRING: ENSP00000343741
    ATRIPQ8WXE13, ENSP000003230994I2D: score=1 STRING: ENSP00000323099
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CCDC92Q53HC01EBI-3937015,EBI-719994
    DVL3Q929971EBI-3937015,EBI-739789
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006281DNA repair IEA--
    GO:0007067mitosis IEA--
    GO:0042384cilium assembly IMP17954613


    CEP164 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CEP164
    Search CenterWatch for drugs/clinical trials and news about CEP164 / CE164 

    (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 CEP164 gene (2 alternative transcripts): 
    NM_001271933.1  NM_014956.4  

    Unigene Cluster for CEP164:

    Centrosomal protein 164kDa
    Hs.504009  [show with all ESTs]
    Unigene Representative Sequence: AB028975
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525734 ENST00000533153 ENST00000278935(uc001prb.3 uc001prc.3 uc001prf.3)
    ENST00000525416 ENST00000527324(uc010rxj.1) ENST00000527609(uc001prd.2)
    ENST00000533570 ENST00000529538(uc010rxk.1) ENST00000533675 ENST00000533706(uc009yzp.1)
    ENST00000529153 ENST00000533223(uc001prg.1) ENST00000528706 ENST00000532187
    ENST00000533433

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: CEP164
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CEP164
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate CEP164 (see all 15):
    hsa-miR-4324 hsa-miR-98 hsa-miR-4254 hsa-miR-769-5p hsa-let-7d hsa-miR-202 hsa-miR-4268 hsa-let-7c
    SwitchGear 3'UTR luciferase reporter plasmidCEP164 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 CEP164 (see all 4)
    OriGene shRNA RFP: CEP164
    OriGene siRNA: CEP164
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CEP164
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CEP164 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CEP164
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CEP164 (NM_014956)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CEP164
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP164 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CEP164
    Browse OriGene validated miRNA SYBR primer pairs
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat CEP164
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CEP164
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEP164

    Additional cDNA sequence: 

    AB028975.1 AK001412.1 AK125995.1 AK302991.1 AK303067.1 AL117632.1 AL137265.1 AL833532.1 
    BC000602.2 BC054015.1 BX648682.1 

    12 DOTS entries:

    DT.100782869  DT.111308  DT.100782863  DT.97791958  DT.100782865  DT.100022820  DT.97840604  DT.100782870 
    DT.91736235  DT.92021961  DT.95259683  DT.120701478 

    24/118 AceView cDNA sequences (see all 118):

    BX099012 BC000602 AI810197 AL137265 AK125995 AA613108 BM785018 H95881 
    BX647583 CR592556 AA314840 BQ929444 BF984513 AI263841 AI245014 BF059402 
    CK822058 AI761502 CA390234 CK299632 BX489357 AI963947 BU603142 BX433101 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CEP164    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
    SP1:                                                                                                                                                            
    SP2:                    -                                                           -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24b ^ 25a · 25b · 25c · 25d ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b
    SP1:  -                                                               
    SP2:  -     -     -           -           -                           
    SP3:                          -           -                           
    SP4:                                                                  
    SP5:                          -                                       


    ECgene alternative splicing isoforms for CEP164

    (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

    CEP164 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCATTGTTT

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

    About this image
    See CEP164 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEP164

    SOURCE GeneReport for Unigene cluster: Hs.504009

    UniProtKB/Swiss-Prot: CE164_HUMAN, Q9UPV0
    Tissue specificity: Expressed in several cell lines

        SABiosciences Custom PCR Arrays for CEP164
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CEP164
    Browse OriGene validated miRNA SYBR primer pairs
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat CEP164
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CEP164
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEP164
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP164

    (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 animals.

    Orthologs for CEP164 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep1641 , 5 centrosomal protein 1641, 5 72.61(n)1
    65.35(a)1
      9 (25.10 cM)5
    2145521  NM_001081373.21  NP_001074842.21 
     457669465 
    chicken
    (Gallus gallus)
    Aves CEP1641 centrosomal protein 164kDa 56.68(n)
    47.94(a)
      419769  XM_417909.3  XP_417909.3 
    lizard
    (Anolis carolinensis)
    Reptilia CEP1646
    --
    35(a)
    1 ↔ 1
    GL343521.1(411822-430888)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01087562.16
    --
    75(a)
    1 ↔ 1
    15(46555101-46558792)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91706
    --
    15(a)
    1 ↔ 1
    X(15872136-15876974)


    ENSEMBL Gene Tree for CEP164 (if available)
    TreeFam Gene Tree for CEP164 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CEP164 gene
    C1orf652  
    1 SIMAP similar gene for CEP164 using alignment to 7 protein entries:     CE164_HUMAN (see all proteins):
    DKFZp434O2413

    CEP164 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CEP164
    PGOHUM00000238442


    (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

    10/1415 NCBI SNPs in CEP164 are shown (see all 1415    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs342063511,2
    C--113136299(+) GTGTA-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs347945411,2
    C--113194339(+) TTTTT-/TGGAGA 1 -- int11Minor allele frequency- T:0.00NA 2
    rs730143271,2
    C,--117196583(+) TGCAAT/CAGGTA 1 -- us2k14Minor allele frequency- C:0.12WA NA EA 360
    rs1480084631,2
    --117196712(+) GACTCC/TGCCTC 1 -- us2k10--------
    rs21686731,2
    C,--117196901(-) gcctgG/Taatcc 1 -- us2k12Minor allele frequency- T:0.25NA 4
    rs5402731,2
    --117197018(-) gcaatG/Aagccc 1 -- us2k12Minor allele frequency- A:0.00NA 4
    rs1892078351,2
    --117197136(+) TAGAGA/TCGGGG 1 -- us2k10--------
    rs1820123291,2
    --117197190(+) GTGATC/GCACCC 1 -- us2k10--------
    rs5480061,2
    H--117197427(-) ATGGTT/AGGAAT 1 -- us2k14Minor allele frequency- A:0.00NS EA 406
    rs6809081,2
    C,F,O,H,--117197621(+) TTGCCC/GCTCTT 1 -- us2k16Minor allele frequency- G:0.02MN NS EA NA 722

    HapMap Linkage Disequilibrium report for CEP164 (117185273 - 117283984 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CEP164
         1 CNV: 5647
    Human Gene Mutation Database (HGMD): CEP164

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEP164
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP164

    (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

    CEP164 for disorders           About GeneDecksing

    OMIM gene information: 614848    OMIM disorders: --

    UniProtKB/Swiss-Prot: CE164_HUMAN, Q9UPV0
  • Defects in CEP164 are the cause of nephronophthisis 15 (NPHP15) [MIM:614845]. An autosomal recessive disorder
  • characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often
    resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial
    dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that
    progresses to end-stage renal failure

    1 disease for CEP164:    About MalaCards
    xeroderma pigmentosum

    1 disease from the University of Copenhagen DISEASES database for CEP164:
    Nephronophthisis

    Export disorders for CEP164 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CEP164 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with CEP164)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)1, 2, 3 Andersen J.S....Mann M. (2003)
    2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2, 3 Kikuno R....Ohara O. (1999)
    3. UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. (PubMed id 19197159)1, 2, 9 Pan Y.R. and Lee E.Y. (2009)
    4. Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1. (PubMed id 18283122)1, 2, 9 Sivasubramaniam S.... Lee E.Y. (2008)
    5. Cep164, a novel centriole appendage protein required for primary cilium formation. (PubMed id 17954613)1, 2, 9 Graser S.... Nigg E.A. (2007)
    6. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. (PubMed id 22863007)1, 2 Chaki M....Hildebrandt F. (2012)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Cep164 mediates vesicular docking to the mother centri ole during early steps of ciliogenesis. (PubMed id 23253480)1 Schmidt K.N....Pereira G. (2012)
    9. ARL13B, PDE6D, and CEP164 form a functional network fo r INPP5E ciliary targeting. (PubMed id 23150559)1 Humbert M.C....Seo S. (2012)
    10. Genetic risk of hepatocellular carcinoma in patients w ith hepatitis C virus: a case control study. (PubMed id 22004425)1 Tomoda T....Shimizu K. (2012)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22897 HGNC: 29182 AceView: Cep164 Ensembl:ENSG00000110274 euGenes: HUgn22897
    ECgene: CEP164 H-InvDB: CEP164

    (According to HUGE)
    About This Section
    HUGE: KIAA1052

    (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 CEP164 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CEP164 gene:
    Search GeneIP for patents involving CEP164

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    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 CEP164   OriGene shRNA RFP for CEP164  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CEP164   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CEP164  
     OriGene Protein Over-expression Lysate for CEP164   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for CEP164   OriGene 3'-UTR Clone for CEP164  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CEP164   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CEP164  
     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  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CEP164   OriGene Custom Protein Services for CEP164  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CEP164
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEP164
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP164
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CEP164
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEP164
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CEP164
     GenScript Custom Purified and Recombinant Proteins Services for CEP164 GenScript cDNA clones with any tag delivered in your preferred vector for CEP164
     GenScript Custom Assay Services for CEP164 GenScript Custom Superior Antibodies Services for CEP164
     GenScript Custom overexpressing Cell Line Services for CEP164 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 CEP164 promoter
     Search Chromatin IP Primers for CEP164
     Search RT2 qPCR Primer Assays in human, mouse, rat CEP164
     Search GNC Networks for CEP164
     SABiosciences Custom PCR Arrays for CEP164
     Search Tocris compounds for CEP164
     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
     CEP164 antibodies
     CEP164 proteins
     CEP164 lysates
     Search for Antibodies for CEP164 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for CEP164
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     CEP164 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for CEP164
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP164
     SwitchGear 3'UTR luciferase reporter plasmids for CEP164
     SwitchGear Promoter luciferase reporter plasmids for CEP164
     ThermoFisher Antibodies for CEP164
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP164
           
    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

    Hot genes      Disease genes      CEP164 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4