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    CEP295NL CEP295 N-terminal like [ Homo sapiens (human) ]

    Gene ID: 100653515, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CEP295NLprovided by HGNC
    Official Full Name
    CEP295 N-terminal likeprovided by HGNC
    Primary source
    HGNC:HGNC:44659
    See related
    Ensembl:ENSG00000178404 AllianceGenome:HGNC:44659
    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
    DDC8; KIAA1731NL
    Summary
    Predicted to enable microtubule binding activity. Predicted to be involved in regulation of centriole replication. Predicted to be located in motile cilium. Predicted to be active in centriole; centrosome; and cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 16.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP295NL in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78890579..78903201, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79785387..79798009, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76886661..76899283, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904067 Neighboring gene ribosomal protein L9 pseudogene 29 Neighboring gene MPRA-validated peak3020 silencer Neighboring gene uncharacterized LOC124904068 Neighboring gene Sharpr-MPRA regulatory region 3779 Neighboring gene MPRA-validated peak3021 silencer Neighboring gene TIMP metallopeptidase inhibitor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76869765-76870265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76874955-76875848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76875849-76876740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76877535-76878035 Neighboring gene Sharpr-MPRA regulatory region 5911/8204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76898462-76899062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76911943-76912638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76912639-76913334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76914785-76915760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12914 Neighboring gene Sharpr-MPRA regulatory region 14803 Neighboring gene Sharpr-MPRA regulatory region 6708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76972258-76972941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76976039-76977031 Neighboring gene galectin 3 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9077 Neighboring gene calcium activated nucleotidase 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. Potential regulatory relationship between the nested gene DDC8 and its host gene tissue inhibitor of metalloproteinase-2. Jaworski DM, et al. Physiol Genomics, 2007 Jan 17. PMID 16985004, Free PMC Article
    2. Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. Kottyan LC, et al. Nat Genet, 2014 Aug. PMID 25017104, Free PMC Article
    3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, Free PMC Article
    4. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
    5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ32655, KIAA1731

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein DDC8 homolog
    Names
    KIAA1731 N-terminal like protein
    differential display clone 8

    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_001243540.2 → NP_001230469.1  protein DDC8 homolog isoform 2

      See identical proteins and their annotated locations for NP_001230469.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a longer N-terminus than isoform 1.
      Source sequence(s)
      AC100788, AK057217
      Consensus CDS
      CCDS58603.1
      UniProtKB/Swiss-Prot
      Q96MC4
      Related
      ENSP00000312767.2, ENST00000322630.3

    2. NM_001243541.2 → NP_001230470.1  protein DDC8 homolog isoform 1

      See identical proteins and their annotated locations for NP_001230470.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (1).
      Source sequence(s)
      AC100788, AK057217, DB037087
      UniProtKB/Swiss-Prot
      Q96MC4

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      78890579..78903201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435083.1 → XP_047291039.1  protein DDC8 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96MC4

    2. XM_047435084.1 → XP_047291040.1  protein DDC8 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96MC4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      79785387..79798009 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314645.1 → XP_054170620.1  protein DDC8 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96MC4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MC4.1 GenPept UniProtKB/Swiss-Prot:Q96MC4

    Gene LinkOut

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

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