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    CCDC15 coiled-coil domain containing 15 [ Homo sapiens (human) ]

    Gene ID: 80071, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CCDC15provided by HGNC
    Official Full Name
    coiled-coil domain containing 15provided by HGNC
    Primary source
    HGNC:HGNC:25798
    See related
    Ensembl:ENSG00000149548 AllianceGenome:HGNC:25798
    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
    Summary
    Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 5.0), skin (RPKM 0.7) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q24.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124954202..125041489)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124982721..125070161)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124824098..124911385)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984406 Neighboring gene hepatic and glial cell adhesion molecule Neighboring gene hepatocellular carcinoma, down-regulated 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:124823758-124824301 Neighboring gene CCDC15 divergent transcript Neighboring gene MPRA-validated peak1499 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124853252-124854004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5693 Neighboring gene solute carrier family 37 member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124951446-124951995 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:124952423-124953622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5694 Neighboring gene transmembrane protein 218

    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. Proximity interactions among centrosome components identify regulators of centriole duplication. Firat-Karalar EN, et al. Curr Biol, 2014 Mar 17. PMID 24613305, Free PMC Article
    2. A comprehensive proteomics-based interaction screen that links DYRK1A to RNF169 and to the DNA damage response. Roewenstrunk J, et al. Sci Rep, 2019 Apr 12. PMID 30979931, Free PMC Article
    3. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. Deng X, et al. PLoS One, 2013. PMID 24324551, Free PMC Article
    4. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. Jakobsen L, et al. EMBO J, 2011 Apr 20. PMID 21399614, Free PMC Article
    5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. Li X, et al. Mol Syst Biol, 2015 Jan 21. PMID 25609649, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC15 localizes to the centriole inner scaffold and controls centriole length and integrity.
      Title: CCDC15 localizes to the centriole inner scaffold and controls centriole length and integrity.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13215

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 15

    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.

    Genomic

    1. NG_052613.1 RefSeqGene

      Range
      5082..92369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025004.3 → NP_079280.2  coiled-coil domain-containing protein 15

      See identical proteins and their annotated locations for NP_079280.2

      Status: VALIDATED

      Source sequence(s)
      AK023277, AP003501, AW339835, BC018540, BU569785, DB516555
      Consensus CDS
      CCDS44756.1
      UniProtKB/Swiss-Prot
      Q0P6D6, Q9H8U7
      UniProtKB/TrEMBL
      E9PKB1
      Related
      ENSP00000341684.5, ENST00000344762.6

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      124954202..125041489
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018346.2 → XP_016873835.1  coiled-coil domain-containing protein 15 isoform X1

      UniProtKB/TrEMBL
      E9PKB1

    2. XM_017018348.2 → XP_016873837.1  coiled-coil domain-containing protein 15 isoform X3

    3. XM_047427627.1 → XP_047283583.1  coiled-coil domain-containing protein 15 isoform X5

    4. XM_017018350.2 → XP_016873839.1  coiled-coil domain-containing protein 15 isoform X6

    5. XM_017018351.2 → XP_016873840.1  coiled-coil domain-containing protein 15 isoform X8

    6. XM_017018353.2 → XP_016873842.1  coiled-coil domain-containing protein 15 isoform X10

    7. XM_017018347.2 → XP_016873836.1  coiled-coil domain-containing protein 15 isoform X2

    8. XM_047427628.1 → XP_047283584.1  coiled-coil domain-containing protein 15 isoform X7

    9. XM_047427630.1 → XP_047283586.1  coiled-coil domain-containing protein 15 isoform X11

    10. XM_017018352.2 → XP_016873841.1  coiled-coil domain-containing protein 15 isoform X9

    11. XM_017018349.2 → XP_016873838.1  coiled-coil domain-containing protein 15 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      124982721..125070161
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370014.1 → XP_054225989.1  coiled-coil domain-containing protein 15 isoform X1

    2. XM_054370016.1 → XP_054225991.1  coiled-coil domain-containing protein 15 isoform X3

    3. XM_054370018.1 → XP_054225993.1  coiled-coil domain-containing protein 15 isoform X5

    4. XM_054370019.1 → XP_054225994.1  coiled-coil domain-containing protein 15 isoform X6

    5. XM_054370021.1 → XP_054225996.1  coiled-coil domain-containing protein 15 isoform X8

    6. XM_054370023.1 → XP_054225998.1  coiled-coil domain-containing protein 15 isoform X10

    7. XM_054370015.1 → XP_054225990.1  coiled-coil domain-containing protein 15 isoform X2

    8. XM_054370020.1 → XP_054225995.1  coiled-coil domain-containing protein 15 isoform X7

    9. XM_054370024.1 → XP_054225999.1  coiled-coil domain-containing protein 15 isoform X11

    10. XM_054370022.1 → XP_054225997.1  coiled-coil domain-containing protein 15 isoform X9

    11. XM_054370017.1 → XP_054225992.1  coiled-coil domain-containing protein 15 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0P6D6.2 GenPept UniProtKB/Swiss-Prot:Q0P6D6

    Gene LinkOut

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