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

CEP78 Gene

protein-coding   GIFtS: 46
GCID: GC09P080850

centrosomal protein 78kDa

(Previous name: chromosome 9 open reading frame 81 )
(Previous symbol: C9orf81)
 Explore 2 diseases affiliated with
CEP78 via our new
 Human Malady Compendium 
Biological research products
for CEP78
    

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

Aliases
Centrosomal Protein 78kDa1 2     IP632
C9orf811 2 3     Centrosomal Protein Of 78 KDa2
FLJ126431     Cep783
Chromosome 9 Open Reading Frame 811     

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

Gene Wiki entry for CEP78


(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_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CEP78

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: CEP78_HUMAN, Q5JTW2 (See protein sequence)
Recommended Name: Centrosomal protein of 78 kDa  
Size: 689 amino acids; 76396 Da
Subcellular location: Cytoplasm, cytoskeleton, centrosome
Sequence caution: Sequence=AAH91515.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH91515.1; Type=Miscellaneous discrepancy; Note=Probable intron retention; Sequence=CAI40238.1;
Type=Erroneous gene model prediction; Sequence=CAI40239.1; Type=Erroneous gene model prediction;
Secondary accessions: A1A4S8 Q5BJE3 Q5JTW0 Q5JTW1 Q9H9N3
Alternative splicing: 3 isoforms:  Q5JTW2-1   Q5JTW2-2   Q5JTW2-3   (Gene prediction based on EST data. No experimental confirmation available)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5JTW2

  • CEP78 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000411284   ENSP00000399286   ENSP00000365782   ENSP00000277082   ENSP00000365783  
    Reactome Protein details: Q5JTW2
    Human Recombinant Protein Products: 
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    Uscn Proteins for CEP78

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

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


    CEP78 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CEP78


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

    CEP78 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    (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

    miRNA
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    (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 CEP78 (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



    CEP78 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEP78

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

    5/58 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 
    CEP192ENSP000003171564STRING: ENSP00000317156
    CEP57ENSP000003179024STRING: ENSP00000317902
    About this table

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

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


    CEP78 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 CEP78
    Search CenterWatch for drugs/clinical trials and news about CEP78 

    (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 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)


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    Additional cDNA 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 

    24/95 AceView cDNA sequences (see all 95):

    BM051884 AA350210 BM668559 BE502367 CA429071 BM759819 BE504986 BF195821 
    Z42851 BM675002 BE267999 BM782634 BU902948 BX641799 BM782751 BC058931 
    R43195 AK022705 BI224755 BI860624 BX104937 BF364060 BM046566 AA353960 

    GeneLoc Exon Structure

    5/7 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™, 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

    CEP78 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTCTTGGA

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

    About this image
    See CEP78 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEP78

    SOURCE GeneReport for Unigene cluster: Hs.374421
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CEP78 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep781 , 5 centrosomal protein 781, 5 81.58(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 63.09(n)
    58.15(a)
      431612  XM_429164.3  XP_429164.3 
    lizard
    (Anolis carolinensis)
    Reptilia CEP786
    --
    58(a)
    1 ↔ 1
    5(700158-713003)
    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 51.24(n)
    45.14(a)
      564741  XM_688072.3  XP_693164.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG78866
    --
    17(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)
    About This Section
      --

    (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

    10/557 NCBI SNPs in CEP78 are shown (see all 557    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
    --80849378(+) TAATGA/GACACT 2 -- us2k10--------
    rs1126983281,2
    --80849400(+) TGCTGG/AAGACT 2 -- us2k12Minor allele frequency- A:0.03CSA WA 120
    rs1461662031,2
    --80849516(+) CCCATA/GTAACA 2 -- us2k10--------
    rs1932300591,2
    --80849551(+) TATATC/GTCAAC 2 -- us2k10--------
    rs1844794391,2
    --80849586(+) GATAAA/GTAAAG 2 -- us2k10--------
    rs605954951,2
    C,--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 (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CEP78: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    CEP78 for disorders           About GeneDecksing

    2 diseases for CEP78:    About MalaCards
    pancreatic cancer    pancreatitis


    Export disorders for CEP78 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 CEP78 gene, integrated from 9 sources (see all 17):
    (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. (2003)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
    7. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    8. Identification of multi-SH3 domain-containing protein interactome in pancreatic cancer: a yeast two-hybrid approach. (PubMed id 18654987)1 Thalappilly S....Dusetti N.J. (2008)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. The PITSLRE/CDK11p58 protein kinase promotes centrosome maturation and bipolar spindle formation. (PubMed id 16462731)1 Petretti C....Giet R. (2006)

    (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)
    About This Section
    Entrez Gene: 84131 HGNC: 25740 AceView: C9orf81 Ensembl:ENSG00000148019 euGenes: HUgn84131
    ECgene: CEP78 H-InvDB: CEP78

    (According to HUGE)
    About This Section
      --

    (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 CEP78 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 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, 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),
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