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CEP78 Gene

protein-coding   GIFtS: 49
GCID: GC09P080850

Centrosomal Protein 78kDa

(Previous name: chromosome 9 open reading frame 81)
(Previous symbol: C9orf81)
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(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
Centrosomal Protein 78kDa1 2
C9orf811 2 3
Chromosome 9 Open Reading Frame 811
IP632
Centrosomal Protein Of 78 KDa2
Cep783

External Ids:    HGNC: 257401   Entrez Gene: 841312   Ensembl: ENSG000001480197   UniProtKB: Q5JTW23   

Export aliases for CEP78 gene to outside databases

Previous GC identifers: GC09P078081 GC09P080040 GC09P050682


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CEP78 Gene:
CEP78 (centrosomal protein 78kDa) is a protein-coding gene.

Gene Wiki entry for CEP78 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 at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CEP78 gene promoter:
         p53   NRSF form 1   NRSF form 2   CBF-C   CBF-A   CBF-B   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CEP78

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CEP78


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

Entrez Gene cytogenetic band: 9q21.2   Ensembl cytogenetic band:  9q21.2   HGNC cytogenetic band: 9q21.2

CEP78 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP78 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P080850:  view genomic region     (about GC identifiers)

Start:
80,850,978 bp from pter      End:
80,894,606 bp from pter
Size:
43,629 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CEP78_HUMAN, Q5JTW2 (See protein sequence)
Recommended Name: Centrosomal protein of 78 kDa  
Size: 689 amino acids; 76396 Da
Sequence caution: Sequence=AAH91515.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH91515.1; Type=Miscellaneous discrepancy; Note=Probable intron retention;
Secondary accessions: A1A4S8 E9PHX5 Q5BJE3 Q5JTW0 Q5JTW1 Q9H9N3
Alternative splicing: 4 isoforms:  Q5JTW2-1   Q5JTW2-2   Q5JTW2-3   Q5JTW2-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CEP78: NX_Q5JTW2

Explore proteomics data for CEP78 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys90, Lys317, Lys374
  • Modification sites at PhosphoSitePlus

  • See CEP78 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001092272.1  NP_115547.1  

    ENSEMBL proteins: 
     ENSP00000411284   ENSP00000399286   ENSP00000365782   ENSP00000277082   ENSP00000365783  
    Reactome Protein details: Q5JTW2

    CEP78 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CEP78

     
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    antibodies-online proteins for CEP78 (2 products) 

     
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    antibodies-online antibodies for CEP78 (11 products) 

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    antibodies-online kits for CEP78 (16 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026212 Cep78

    Graphical View of Domain Structure for InterPro Entry Q5JTW2

    ProtoNet protein and cluster: Q5JTW2

    UniProtKB/Swiss-Prot: CEP78_HUMAN, Q5JTW2
    Similarity: Belongs to the CEP78 family


    Find genes that share domains with CEP78           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CEP78

    miRNA
    Products:
        
    miRTarBase miRNAs that target CEP78:
    hsa-mir-423-3p (MIRT042634), hsa-mir-192-5p (MIRT026788)

    Block miRNA regulation of human, mouse, rat CEP78 using miScript Target Protectors
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CEP78

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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CEP78
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP78

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP78


    (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
    CEP78_HUMAN, Q5JTW2: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with CEP78           About GenesLikeMe


    (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 CEP78 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
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90


    Find genes that share SuperPaths with CEP78           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for CEP78
        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


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CEP78
    Interactions:

        Search GeneGlobe Interaction Network for CEP78

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

    Selected Interacting proteins for CEP78 (Q5JTW23 ENSP000003657824) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3BP4Q9P0V33, ENSP000003402374I2D: score=1 STRING: ENSP00000340237
    SQSTM1Q135013I2D: score=3 
    DVL3Q929973I2D: score=1 
    CEP57ENSP000003179024STRING: ENSP00000317902
    CETN2ENSP000003593004STRING: ENSP00000359300
    About this table

    Gene Ontology (GO): 2 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--

    Find genes that share ontologies with CEP78           About GenesLikeMe



    (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 CEP78



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CEP78 gene (2 alternative transcripts): 
    NM_001098802.1  NM_032171.1  

    Unigene Cluster for CEP78:

    Centrosomal protein 78kDa
    Hs.374421  [show with all ESTs]
    Unigene Representative Sequence: AK303457
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000424347(uc004akx.2) ENST00000536374(uc011lsp.1) ENST00000476652
    ENST00000415759(uc010mpp.3) ENST00000376597(uc004aky.4) ENST00000277082
    ENST00000376598 ENST00000487108 ENST00000498582 ENST00000459817 ENST00000447629(uc004akz.1)

    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CEP78
      QuantiFast Probe-based Assays in human, mouse, rat CEP78

    Additional mRNA sequence: 

    AK022705.1 AK303457.1 BC058931.1 BC091515.1 BC128058.1 

    11 DOTS entries:

    DT.101978486  DT.110543  DT.121211155  DT.95148805  DT.121211165  DT.110544  DT.91848700  DT.95078263 
    DT.97841069  DT.97841068  DT.95284353 

    Selected AceView cDNA sequences (see all 95):

    Z42851 BM782751 BC058931 AA350210 BM675002 BE502367 CA429071 BM759819 
    BX641799 BM051884 BE504986 BM668559 BU902948 BF195821 BE267999 BM782634 
    BG403488 AW002653 BX493142 AI146275 BG027241 BI225715 AA703191 AA350211 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CEP78 (see all 7)    About this scheme

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

    ExUns: 16d
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CEP78

    (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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    CEP78 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTCTTGGA
    CEP78 Expression
    About this image

    CEP78 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CEP78 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.374421
        Custom PCR Arrays for CEP78
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP78

    (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.

    Orthologs for CEP78 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep781 , 5 centrosomal protein 781, 5 81.53(n)1
    79.69(a)1
      19 (10.89 cM)5
    2085181  NM_198019.21  NP_932136.21 
     159557745 
    chicken
    (Gallus gallus)
    Aves CEP781 centrosomal protein 78kDa 66.16(n)
    63.04(a)
      431612  XM_004949177.1  XP_004949234.1 
    lizard
    (Anolis carolinensis)
    Reptilia CEP786
    centrosomal protein 78kDa
    48(a)
    1 ↔ 1
    5(697932-713085)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.113632 Transcribed sequence with weak similarity to protein more 78.99(n)    AL883447.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cep781 centrosomal protein 78 56.77(n)
    53.38(a)
      564741  XM_688072.4  XP_693164.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG78866
    --
    18(a)
    1 ↔ 1
    3R(10452398-10468285)


    ENSEMBL Gene Tree for CEP78 (if available)
    TreeFam Gene Tree for CEP78 (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 CEP78 (see all 709)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs107802271,2
    C,F,H--80849077(+) GGGCAA/GTGAGA 2 -- us2k132Minor allele frequency- G:0.47NS EA NA WA CSA 2892
    rs1438656981,2
    --80849078(+) GGCAGC/TGAGAA 2 -- us2k10--------
    rs1486195911,2
    --80849117(+) GGATGA/CAGAGA 2 -- us2k10--------
    rs1420090541,2
    C--80849378(+) TAATGA/GACACT 2 -- us2k10--------
    rs1126983281,2
    C,F--80849400(+) TGCTGG/AAGACT 2 -- us2k12Minor allele frequency- A:0.03CSA WA 120
    rs1461662031,2
    C--80849516(+) CCCATA/GTAACA 2 -- us2k10--------
    rs1932300591,2
    --80849551(+) TATATC/GTCAAC 2 -- us2k10--------
    rs1844794391,2
    C--80849586(+) GATAAA/GTAAAG 2 -- us2k10--------
    rs605954951,2
    C,F--80849592(+) TAAAGT/CAGGAA 2 -- us2k12Minor allele frequency- C:0.12WA 120
    rs1401865321,2
    --80849605(+) GAAAAC/TATAGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CEP78 (80850978 - 80894606 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CEP78: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CEP78
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP78

    (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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      --

    (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 CEP78 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with CEP78)
        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. (Nature 2003)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    4. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    5. 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)
    6. 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)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
    9. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84131 HGNC: 25740 AceView: C9orf81 Ensembl:ENSG00000148019 euGenes: HUgn84131
    ECgene: CEP78 H-InvDB: CEP78

    (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)
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    NameDescription
    PharmGKB entry for CEP78 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 CEP78 gene:
    Search GeneIP for patents involving CEP78

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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