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    CEP15 centrosomal protein 15 [ Homo sapiens (human) ]

    Gene ID: 57415, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CEP15provided by HGNC
    Official Full Name
    centrosomal protein 15provided by HGNC
    Primary source
    HGNC:HGNC:25024
    See related
    Ensembl:ENSG00000114405 AllianceGenome:HGNC:25024
    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
    HT021; C3orf14
    Summary
    Predicted to be located in cilium. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 5.7), testis (RPKM 2.9) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP15 in Genome Data Viewer
    Location:
    3p14.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (62319022..62336213)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (62362532..62379727)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (62304697..62321888)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase receptor type G Neighboring gene uncharacterized LOC124909389 Neighboring gene PTPRG antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 9750 Neighboring gene VISTA enhancer hs434 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:62353809-62354715 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:62354716-62355621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:62357949-62358508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:62358509-62359066 Neighboring gene VISTA enhancer hs435 Neighboring gene uncharacterized LOC105377647 Neighboring gene FEZ family zinc finger 2

    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. DNA methylation in glioblastoma: impact on gene expression and clinical outcome. Etcheverry A, et al. BMC Genomics, 2010 Dec 14. PMID 21156036, Free PMC Article
    2. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Hu RM, et al. Proc Natl Acad Sci U S A, 2000 Aug 15. PMID 10931946, Free PMC Article
    3. A Multipronged Unbiased Strategy Guides the Development of an Anti-EGFR/EPHA2-Bispecific Antibody for Combination Cancer Therapy. El Zawily A, et al. Clin Cancer Res, 2023 Jul 14. PMID 36976175, Free PMC Article
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein 15
    Names
    centrosomal protein 15 kDa
    uncharacterized protein C3orf14

    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_001291941.3 → NP_001278870.1  centrosomal protein 15 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC092502, AF236158, BE047745, DA783189
      Consensus CDS
      CCDS2896.1
      UniProtKB/Swiss-Prot
      B2R9U0, Q9HBI5
      Related
      ENSP00000419977.1, ENST00000462069.6
      Conserved Domains (1) summary
      pfam15134
      Location:1 → 110
      DUF4570; Domain of unknown function (DUF4570)

    2. NM_001291942.3 → NP_001278871.1  centrosomal protein 15 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC092502, BE047745, BU568674
      Consensus CDS
      CCDS2896.1
      UniProtKB/Swiss-Prot
      B2R9U0, Q9HBI5
      Related
      ENSP00000232519.5, ENST00000232519.9
      Conserved Domains (1) summary
      pfam15134
      Location:1 → 110
      DUF4570; Domain of unknown function (DUF4570)

    3. NM_001291943.2 → NP_001278872.1  centrosomal protein 15 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      DA615061
      Related
      ENST00000486169.5
      Conserved Domains (1) summary
      pfam15134
      Location:1 → 59
      DUF4570; Domain of unknown function (DUF4570)

    4. NM_020685.6 → NP_065736.1  centrosomal protein 15 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC092502, AK313915, BE047745
      Consensus CDS
      CCDS2896.1
      UniProtKB/Swiss-Prot
      B2R9U0, Q9HBI5
      Related
      ENSP00000418086.1, ENST00000494481.5
      Conserved Domains (1) summary
      pfam15134
      Location:1 → 110
      DUF4570; Domain of unknown function (DUF4570)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      62319022..62336213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006931.2 → XP_016862420.1  centrosomal protein 15 isoform X1

      UniProtKB/Swiss-Prot
      B2R9U0, Q9HBI5
      Conserved Domains (1) summary
      pfam15134
      Location:1 → 110
      DUF4570; Domain of unknown function (DUF4570)

    2. XM_047448631.1 → XP_047304587.1  centrosomal protein 15 isoform X1

      UniProtKB/Swiss-Prot
      B2R9U0, Q9HBI5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      62362532..62379727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347373.1 → XP_054203348.1  centrosomal protein 15 isoform X1

      UniProtKB/Swiss-Prot
      B2R9U0, Q9HBI5

    2. XM_054347372.1 → XP_054203347.1  centrosomal protein 15 isoform X1

      UniProtKB/Swiss-Prot
      B2R9U0, Q9HBI5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HBI5.1 GenPept UniProtKB/Swiss-Prot:Q9HBI5

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