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CEP76 centrosomal protein 76 [ Homo sapiens (human) ]

Gene ID: 79959, updated on 7-Apr-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 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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (12661956..12702777, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (12824941..12865780, complement)
105.20220307 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
  • 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 (44) 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_2023_10

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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