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    CEP76 centrosomal protein 76 [ Homo sapiens (human) ]

    Gene ID: 79959, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CEP76provided by HGNC
    Official Full Name
    centrosomal protein 76provided by HGNC
    Primary source
    HGNC:HGNC:25727
    See related
    Ensembl:ENSG00000101624 MIM:620791; AllianceGenome:HGNC:25727
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C18orf9; HsT1705
    Summary
    This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
    Expression
    Broad expression in testis (RPKM 7.3), esophagus (RPKM 1.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP76 in Genome Data Viewer
    Location:
    18p11.21
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (12661956..12702777, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (12824941..12865780, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12661955..12702776, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12465167-12465325 Neighboring gene high mobility group box 3 pseudogene 28 Neighboring gene spire type actin nucleation factor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12494438-12494637 Neighboring gene MPRA-validated peak3058 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9314 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:12647566-12648390 Neighboring gene NANOG hESC enhancer GRCh37_chr18:12651568-12652151 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12658125-12658293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9318 Neighboring gene proteasome assembly chaperone 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12701867-12702764 Neighboring gene NANOG hESC enhancer GRCh37_chr18:12722786-12723287 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12734331-12734497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13105 Neighboring gene long intergenic non-protein coding RNA 1882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12766527-12767028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12767029-12767528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13106 Neighboring gene protein tyrosine phosphatase non-receptor type 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13109 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12843102-12843610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12860375-12861038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12873719-12874330 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12875558-12876170 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12878042-12878251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9320

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The centriole protein CEP76 negatively regulates PLK1 activity in the cytoplasm for proper mitotic progression. Takeda Y, et al. J Cell Sci, 2020 Oct 1. PMID 32878946
    2. A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. Hassan MJ, et al. Hum Genet, 2008 Feb. PMID 18071751
    3. Opposing post-translational modifications regulate Cep76 function to suppress centriole amplification. Barbelanne M, et al. Oncogene, 2016 Oct 13. PMID 27065328, Free PMC Article
    4. Cep76, a centrosomal protein that specifically restrains centriole reduplication. Tsang WY, et al. Dev Cell, 2009 May. PMID 19460342, Free PMC Article
    5. Neurl4, a novel daughter centriole protein, prevents formation of ectopic microtubule organizing centres. Li J, et al. EMBO Rep, 2012 Jun 1. PMID 22441691, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The centriole protein CEP76 negatively regulates PLK1 activity in the cytoplasm for proper mitotic progression.
      Title: The centriole protein CEP76 negatively regulates PLK1 activity in the cytoplasm for proper mitotic progression.
    2. Here, we found that centrosomal protein of 76 kDa (Cep76), previously shown to restrain centriole amplification, interacts with cyclin-dependent kinase 2 (CDK2) and is a bona fide substrate of this kinase. Cep76 is preferentially phosphorylated by cyclin A/CDK2 at a single site S83, and this event is crucial to suppress centriole amplification in S phase
      Title: Opposing post-translational modifications regulate Cep76 function to suppress centriole amplification.
    3. Enforced Cep76 expression specifically inhibits centriole amplification in cells undergoing multiple rounds of duplication without preventing the formation of extra procentrioles from a parental template.
      Title: Cep76, a centrosomal protein that specifically restrains centriole reduplication.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12542

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosomal protein of 76 kDa
    Names
    centrosomal protein 76kDa

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001271989.2 → NP_001258918.1  centrosomal protein of 76 kDa isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. It encodes isoform (b) which is shorter than isoform a.
      Source sequence(s)
      AK298223, AK303117, AP005482, BC026307, DA476378
      Consensus CDS
      CCDS62390.1
      UniProtKB/Swiss-Prot
      Q8TAP6
      UniProtKB/TrEMBL
      B4DP81
      Related
      ENSP00000403074.1, ENST00000423709.6
      Conserved Domains (2) summary
      pfam01841
      Location:290 → 336
      Transglut_core; Transglutaminase-like superfamily
      pfam15627
      Location:96 → 183
      CEP76-C2; CEP76 C2 domain

    2. NM_024899.4 → NP_079175.2  centrosomal protein of 76 kDa isoform a

      See identical proteins and their annotated locations for NP_079175.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK298223, AP005482, BC026307, DA476378
      Consensus CDS
      CCDS11861.1
      UniProtKB/Swiss-Prot
      B0YJB2, B4DXG5, B4DZW1, Q658N5, Q8TAP6, Q9H9U7
      Related
      ENSP00000262127.2, ENST00000262127.7
      Conserved Domains (1) summary
      pfam15627
      Location:101 → 258
      CEP76-C2; CEP76 C2 domain

    RNA

    1. NR_073537.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites in internal exons and has an alternate 3' exon. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK298223, AK301964, BC026307, BC033026, BX505397
      Related
      ENST00000590143.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      12661956..12702777 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437808.1 → XP_047293764.1  centrosomal protein of 76 kDa isoform X5

    2. XM_005258149.6 → XP_005258206.1  centrosomal protein of 76 kDa isoform X2

      Conserved Domains (2) summary
      pfam01841
      Location:365 → 411
      Transglut_core; Transglutaminase-like superfamily
      pfam15627
      Location:101 → 258
      CEP76-C2; CEP76 C2 domain

    3. XM_017025981.2 → XP_016881470.1  centrosomal protein of 76 kDa isoform X1

    4. XM_017025983.3 → XP_016881472.1  centrosomal protein of 76 kDa isoform X4

    5. XM_017025982.2 → XP_016881471.1  centrosomal protein of 76 kDa isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      12824941..12865780 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319124.1 → XP_054175099.1  centrosomal protein of 76 kDa isoform X5

    2. XM_054319121.1 → XP_054175096.1  centrosomal protein of 76 kDa isoform X2

    3. XM_054319120.1 → XP_054175095.1  centrosomal protein of 76 kDa isoform X6

    4. XM_054319123.1 → XP_054175098.1  centrosomal protein of 76 kDa isoform X4

    5. XM_054319122.1 → XP_054175097.1  centrosomal protein of 76 kDa isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAP6.1 GenPept UniProtKB/Swiss-Prot:Q8TAP6

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