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

Gene ID: 100653515, updated on 17-Jun-2019

Summary

Official Symbol
CEP295NLprovided by HGNC
Official Full Name
CEP295 N-terminal likeprovided by HGNC
Primary source
HGNC:HGNC:44659
See related
Ensembl:ENSG00000178404
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
Expression
Restricted expression toward testis (RPKM 16.5) See more
Orthologs

Genomic context

See CEP295NL in Genome Data Viewer
Location:
17q25.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (78890579..78903201, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76886577..76899299, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L9 pseudogene 29 Neighboring gene Sharpr-MPRA regulatory region 3779 Neighboring gene TIMP metallopeptidase inhibitor 2 Neighboring gene galectin 3 binding protein Neighboring gene calcium activated nucleotidase 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ32655, KIAA1731

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
regulation of centriole replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
centriole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001243540.2NP_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, ENST00000322630.2
  2. NM_001243541.2NP_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: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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