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Aliases for CEP295 Gene

Aliases for CEP295 Gene

  • Centrosomal Protein 295 2 3 5
  • KIAA1731 2 3 4
  • Centrosomal Protein 295kDa 2 3
  • Centrosomal Protein Of 295 KDa 3
  • Centriolar Protein CEP295 3

External Ids for CEP295 Gene

Previous HGNC Symbols for CEP295 Gene

  • KIAA1731

Summaries for CEP295 Gene

GeneCards Summary for CEP295 Gene

CEP295 (Centrosomal Protein 295) is a Protein Coding gene. An important paralog of this gene is CEP295NL.

UniProtKB/Swiss-Prot for CEP295 Gene

  • Centriole-enriched protein that mediates centriole-to-centrosome conversion at late mitosis, but is dispensable for cartwheel removal or centriole disengagement.

Additional gene information for CEP295 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP295 Gene

Genomics for CEP295 Gene

Regulatory Elements for CEP295 Gene

Enhancers for CEP295 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H094237 0.9 ENCODE 113.3 +576.2 576191 0 ZNF473 ZNF195 BRCA1 GLIS2 HSF1 ZNF416 ZNF350 MCM3 YY2 ZNF114 CEP295 MED17 MRE11 ANKRD49 BUD13P1 SNORA1 ENSG00000270578 ENSG00000233536 LOC100420801 KDM4F
GH11H093733 1.3 ENCODE dbSUPER 46 +76.7 76697 9 HNRNPUL1 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF207 FOS DEK MED17 CEP295 ANKRD49 MRE11 C11orf54 SNORA1 TAF1D ENSG00000255445 SMCO4 GC11M093814
GH11H093196 1.1 ENCODE 33.9 -464.0 -464020 2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS SP3 MXD4 REST CEP295 ENSG00000255445 MED17 SLC36A4 SNORA1 ENSG00000280379
GH11H093660 1.1 ENCODE 31.7 +0.6 606 2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CEP295 MED17 MRE11 ANKRD49 SNORA1 HEPHL1 GC11P093662
GH11H094127 2 FANTOM5 Ensembl ENCODE dbSUPER 17.1 +470.8 470846 10 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 FOS MED17 PANX1 ANKRD49 HEPHL1 CEP295 MRE11 SNORA1 ENSG00000255445 FUT4 PIR47114
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CEP295 on UCSC Golden Path with GeneCards custom track

Promoters for CEP295 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000043397 261 1401 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for CEP295 Gene

Chromosome:
11
Start:
93,661,639 bp from pter
End:
93,730,358 bp from pter
Size:
68,720 bases
Orientation:
Plus strand

Genomic View for CEP295 Gene

Genes around CEP295 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP295 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP295 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP295 Gene

Proteins for CEP295 Gene

  • Protein details for CEP295 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0D2-CE295_HUMAN
    Recommended name:
    Centrosomal protein of 295 kDa
    Protein Accession:
    Q9C0D2
    Secondary Accessions:
    • C9J5H9
    • C9JQY8
    • Q8N7L4
    • Q8N919
    • Q8N9B0
    • Q96LT8

    Protein attributes for CEP295 Gene

    Size:
    2601 amino acids
    Molecular mass:
    295176 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB21822.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB21822.2; Type=Frameshift; Positions=2016; Evidence={ECO:0000305}; Sequence=BAB71582.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04638.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP295 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP295 Gene

Post-translational modifications for CEP295 Gene

  • Ubiquitination at Lys84, posLast=292292, posLast=533533, posLast=859859, Lys875, Lys951, posLast=961961, posLast=10271027, Lys1066, Lys1093, Lys1131, Lys1352, posLast=15941594, posLast=17121712, and Lys2206
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP295 Gene

Domains & Families for CEP295 Gene

Gene Families for CEP295 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP295 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP295 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP295: view

No data available for UniProtKB/Swiss-Prot for CEP295 Gene

Function for CEP295 Gene

Molecular function for CEP295 Gene

UniProtKB/Swiss-Prot Function:
Centriole-enriched protein that mediates centriole-to-centrosome conversion at late mitosis, but is dispensable for cartwheel removal or centriole disengagement.

Phenotypes From GWAS Catalog for CEP295 Gene

Animal Model Products

CRISPR Products

miRNA for CEP295 Gene

miRTarBase miRNAs that target CEP295

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CEP295
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP295 Gene

Localization for CEP295 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP295 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Associates with both of the converted centrioles during G1 but becomes more enriched at the newly formed daughter (or unconverted) centrioles during S, G2, and early M phases. Colocalizes with SASS6 and CEP250 proteins (PubMed:25131205). Colocalizes with centriolar acetylated tubulin (PubMed:20844083). {ECO:0000269 PubMed:20844083, ECO:0000269 PubMed:25131205}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEP295 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
plasma membrane 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP295 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20844083
GO:0005813 centrosome IDA,IEA 20844083
GO:0005814 centriole IDA,IEA 25131205
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA,IDA 20844083
genes like me logo Genes that share ontologies with CEP295: view

Pathways & Interactions for CEP295 Gene

SuperPathways for CEP295 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP295 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1902117 positive regulation of organelle assembly IDA 25131205
genes like me logo Genes that share ontologies with CEP295: view

No data available for Pathways by source and SIGNOR curated interactions for CEP295 Gene

Drugs & Compounds for CEP295 Gene

No Compound Related Data Available

Transcripts for CEP295 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CEP295
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CEP295 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b ^
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6: - - -
SP7:
SP8:

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for CEP295 Gene

GeneLoc Exon Structure for
CEP295
ECgene alternative splicing isoforms for
CEP295

Expression for CEP295 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP295 Gene

Protein differential expression in normal tissues from HIPED for CEP295 Gene

This gene is overexpressed in Pancreatic juice (31.7), Liver (25.8), and Heart (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CEP295 Gene



Protein tissue co-expression partners for CEP295 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP295 Gene:

CEP295

Evidence on tissue expression from TISSUES for CEP295 Gene

  • Nervous system(4.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with CEP295: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP295 Gene

Orthologs for CEP295 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP295 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1731 33 34
  • 99.27 (n)
cow
(Bos Taurus)
Mammalia KIAA1731 33 34
  • 82.2 (n)
mouse
(Mus musculus)
Mammalia 5830418K08Rik 33 34
  • 74.34 (n)
Cep295 16
rat
(Rattus norvegicus)
Mammalia RGD1311723 33
  • 74.12 (n)
dog
(Canis familiaris)
Mammalia KIAA1731 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1731 34
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1731 34
  • 20 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 43 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii KIAA1731 34
  • 43 (a)
OneToMany
Species where no ortholog for CEP295 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP295 Gene

ENSEMBL:
Gene Tree for CEP295 (if available)
TreeFam:
Gene Tree for CEP295 (if available)

Paralogs for CEP295 Gene

Paralogs for CEP295 Gene

genes like me logo Genes that share paralogs with CEP295: view

Variants for CEP295 Gene

Sequence variations from dbSNP and Humsavar for CEP295 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000020156 -- 93,675,943(+) GGAAA(A/T)TTTGG intron-variant
rs1000071930 -- 93,719,255(+) TTTTT(C/T)TTTTT intron-variant
rs1000088376 -- 93,725,454(+) TTTTG(A/C)TTCCA intron-variant
rs1000127707 -- 93,700,528(+) TTAAG(C/T)GGTTC intron-variant
rs1000242835 -- 93,700,336(+) AAGTT(-/AA)AACAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP295 Gene

Variant ID Type Subtype PubMed ID
esv3627294 CNV gain 21293372
nsv1113424 CNV deletion 24896259
nsv441 CNV insertion 18451855
nsv525639 CNV loss 19592680
nsv527168 CNV loss 19592680
nsv819292 CNV gain 19587683
nsv832232 CNV gain 17160897
nsv972062 CNV duplication 23825009

Variation tolerance for CEP295 Gene

Gene Damage Index Score: 11.23; 92.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP295 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP295

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP295 Gene

Disorders for CEP295 Gene

Relevant External Links for CEP295

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP295

No disorders were found for CEP295 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CEP295 Gene

Publications for CEP295 Gene

  1. Stabilization of cartwheel-less centrioles for duplication requires CEP295-mediated centriole-to-centrosome conversion. (PMID: 25131205) Izquierdo D … Tsou MF (Cell reports 2014) 2 3 4 60
  2. Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. (PMID: 20844083) Knorz VJ … Hearn T (Molecular biology of the cell 2010) 2 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for CEP295 Gene

Sources for CEP295 Gene

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