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

Gene ID: 100653515, updated on 8-Mar-2025

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, Mar 2025]
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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

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