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    CCP110 centriolar coiled-coil protein 110 [ Homo sapiens (human) ]

    Gene ID: 9738, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCP110provided by HGNC
    Official Full Name
    centriolar coiled-coil protein 110provided by HGNC
    Primary source
    HGNC:HGNC:24342
    See related
    Ensembl:ENSG00000103540 MIM:609544; AllianceGenome:HGNC:24342
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CP110; Cep110
    Summary
    Involved in centriole replication; negative regulation of cilium assembly; and regulation of cytokinesis. Located in centriole and centrosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 21.6), brain (RPKM 10.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCP110 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (19523942..19553408)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (19454815..19484280)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19535264..19564730)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene transmembrane channel like 5 Neighboring gene RNA, U4 small nuclear 46, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:19532887-19533621 Neighboring gene glycerophosphodiester phosphodiesterase 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19566659-19567621 Neighboring gene VPS35 endosomal protein sorting factor like Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:19620544-19621743 Neighboring gene NANOG hESC enhancer GRCh37_chr16:19673654-19674240 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:19698132-19698632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19710103-19710758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19710759-19711413 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19721101-19721825 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19721826-19722552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:19723278-19724003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10534 Neighboring gene lysine rich nucleolar protein 1

    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. Emerging insights into CP110 removal during early steps of ciliogenesis. Xie S, et al. J Cell Sci, 2024 Feb 15. PMID 38415788,
    2. Centrioles want to move out and make cilia. Pearson CG, et al. Dev Cell, 2007 Sep. PMID 17765674
    3. Inflammation-mediated upregulation of centrosomal protein 110, a negative modulator of ciliogenesis, in patients with chronic rhinosinusitis. Lai Y, et al. J Allergy Clin Immunol, 2011 Dec. PMID 21982113
    4. MiR-129-3p promotes docetaxel resistance of breast cancer cells via CP110 inhibition. Zhang Y, et al. Sci Rep, 2015 Oct 21. PMID 26487539, Free PMC Article
    5. Control of centriole length by CPAP and CP110. Schmidt TI, et al. Curr Biol, 2009 Jun 23. PMID 19481458

    See all (102) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Emerging insights into CP110 removal during early steps of ciliogenesis.
      Title: Emerging insights into CP110 removal during early steps of ciliogenesis.
    2. CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis.
      Title: CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis.
    3. EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole.
      Title: EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole.
    4. Primary cilia biogenesis and associated retinal ciliopathies.
      Title: Primary cilia biogenesis and associated retinal ciliopathies.
    5. LUBAC regulates ciliogenesis by promoting CP110 removal from the mother centriole.
      Title: LUBAC regulates ciliogenesis by promoting CP110 removal from the mother centriole.
    6. CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
      Title: CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
    7. Myeloid/lymphoid neoplasm with CEP110-FGFR1 fusion: An analysis of 16 cases show common features and poor prognosis.
      Title: Myeloid/lymphoid neoplasm with CEP110-FGFR1 fusion: An analysis of 16 cases show common features and poor prognosis.
    8. PLK4 specifically phosphorylates CP110 at the S98 position and is an essential step for centriole assembly.
      Title: PLK4 phosphorylation of CP110 is required for efficient centriole assembly.
    9. This brief communication reports on a patient with an exceedingly rare "8p11 (eight-p-eleven) myeloproliferative syndrome" (EMS) with CEP110-FGFR1 rearrangement who responded to treatment with the multi-tyrosine kinase inhibitor (TKI) dasatinib
      Title: Response to Tyrosine Kinase Inhibitors in Myeloproliferative Neoplasia with 8p11 Translocation and CEP110-FGFR1 Rearrangement.
    10. In tissues of prostate cancer patients, low CP110 and high miR-129-3p expression levels correlated with metastasi
      Title: miR-129-3p controls centrosome number in metastatic prostate cancer cells by repressing CP110.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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)

    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

    • KIAA0419, DKFZp781G1416

    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 centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in centrosome duplication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ciliary basal body organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ciliary basal body organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cytokinesis 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 cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    centriolar coiled-coil protein of 110 kDa
    Names
    centriolar coiled-coil protein 110kDa
    centrosomal protein CP110
    centrosomal protein of 110 kDa

    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_001199022.3 → NP_001185951.2  centriolar coiled-coil protein of 110 kDa isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC012621, BC036654, BQ632514, BY798911, CN307903, CN307908, CR749255, DA250590
      Consensus CDS
      CCDS55992.1
      UniProtKB/Swiss-Prot
      B7WP23, O43303, O43335, Q68DV9, Q8NE13
      UniProtKB/TrEMBL
      B4DTZ1
      Related
      ENSP00000370803.5, ENST00000381396.9
      Conserved Domains (1) summary
      pfam16025
      Location:29 → 125
      CALM_bind; Calcium-dependent calmodulin binding

    2. NM_001323569.2 → NP_001310498.1  centriolar coiled-coil protein of 110 kDa isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC012621
      Consensus CDS
      CCDS55992.1
      UniProtKB/Swiss-Prot
      B7WP23, O43303, O43335, Q68DV9, Q8NE13
      UniProtKB/TrEMBL
      B4DTZ1
      Conserved Domains (1) summary
      pfam16025
      Location:29 → 125
      CALM_bind; Calcium-dependent calmodulin binding

    3. NM_001323570.2 → NP_001310499.1  centriolar coiled-coil protein of 110 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012621
      Consensus CDS
      CCDS10579.1
      UniProtKB/TrEMBL
      B4DTZ1

    4. NM_001323571.2 → NP_001310500.1  centriolar coiled-coil protein of 110 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012621
      Consensus CDS
      CCDS10579.1
      UniProtKB/TrEMBL
      B4DTZ1

    5. NM_001323572.2 → NP_001310501.1  centriolar coiled-coil protein of 110 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012621
      Consensus CDS
      CCDS10579.1
      UniProtKB/TrEMBL
      B4DTZ1
      Related
      ENSP00000511625.1, ENST00000694978.1

    6. NM_001323576.2 → NP_001310505.1  centriolar coiled-coil protein of 110 kDa isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012621
      UniProtKB/TrEMBL
      B4DTZ1
      Conserved Domains (1) summary
      pfam16025
      Location:29 → 125
      CALM_bind; Calcium-dependent calmodulin binding

    7. NM_001323577.2 → NP_001310506.1  centriolar coiled-coil protein of 110 kDa isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012621
      UniProtKB/TrEMBL
      B4DTZ1
      Conserved Domains (1) summary
      pfam16025
      Location:29 → 125
      CALM_bind; Calcium-dependent calmodulin binding

    8. NM_014711.6 → NP_055526.4  centriolar coiled-coil protein of 110 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      AB007879, AC012621, BC036654, BP360952, BY798911, CB066937, DA370828, DB504255
      Consensus CDS
      CCDS10579.1
      UniProtKB/TrEMBL
      B4DTZ1
      Related
      ENSP00000379515.2, ENST00000396212.6

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      19523942..19553408
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023908.2 → XP_016879397.1  centriolar coiled-coil protein of 110 kDa isoform X1

      UniProtKB/Swiss-Prot
      B7WP23, O43303, O43335, Q68DV9, Q8NE13
      UniProtKB/TrEMBL
      B4DTZ1
      Conserved Domains (1) summary
      pfam16025
      Location:29 → 125
      CALM_bind; Calcium-dependent calmodulin binding

    2. XM_011545991.3 → XP_011544293.1  centriolar coiled-coil protein of 110 kDa isoform X1

      See identical proteins and their annotated locations for XP_011544293.1

      UniProtKB/Swiss-Prot
      B7WP23, O43303, O43335, Q68DV9, Q8NE13
      UniProtKB/TrEMBL
      B4DTZ1
      Conserved Domains (1) summary
      pfam16025
      Location:29 → 125
      CALM_bind; Calcium-dependent calmodulin binding

    3. XM_047434961.1 → XP_047290917.1  centriolar coiled-coil protein of 110 kDa isoform X2

    4. XM_011545992.3 → XP_011544294.1  centriolar coiled-coil protein of 110 kDa isoform X1

      See identical proteins and their annotated locations for XP_011544294.1

      UniProtKB/Swiss-Prot
      B7WP23, O43303, O43335, Q68DV9, Q8NE13
      UniProtKB/TrEMBL
      B4DTZ1
      Conserved Domains (1) summary
      pfam16025
      Location:29 → 125
      CALM_bind; Calcium-dependent calmodulin binding

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      19454815..19484280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314502.1 → XP_054170477.1  centriolar coiled-coil protein of 110 kDa isoform X1

    2. XM_054314500.1 → XP_054170475.1  centriolar coiled-coil protein of 110 kDa isoform X1

    3. XM_054314503.1 → XP_054170478.1  centriolar coiled-coil protein of 110 kDa isoform X2

    4. XM_054314501.1 → XP_054170476.1  centriolar coiled-coil protein of 110 kDa isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43303.3 GenPept UniProtKB/Swiss-Prot:O43303

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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