Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CEP170 Gene

Aliases for CEP170 Gene

  • Centrosomal Protein 170 2 3 5
  • KIAA0470 2 3 4
  • Centrosomal Protein 170kDa 2 3
  • KARP-1-Binding Protein 3 4
  • XRCC5 Binding Protein 2 3
  • FAM68A 3 4
  • KAB 3 4
  • Centrosomal Protein Of 170 KDa 3
  • KARP 1 Binding Protein 2
  • KARP1-Binding Protein 4
  • Cep170 4

External Ids for CEP170 Gene

Previous HGNC Symbols for CEP170 Gene

  • KIAA0470

Previous GeneCards Identifiers for CEP170 Gene

  • GC01M239615
  • GC01M241354
  • GC01M243287
  • GC01M213646

Summaries for CEP170 Gene

Entrez Gene Summary for CEP170 Gene

  • The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for CEP170 Gene

CEP170 (Centrosomal Protein 170) is a Protein Coding gene. Diseases associated with CEP170 include Retinal Aplasia and Hypoascorbemia. An important paralog of this gene is CEP170B.

UniProtKB/Swiss-Prot for CEP170 Gene

  • Plays a role in microtubule organization (PubMed:15616186). Required for centriole subdistal appendage assembly (PubMed:28422092).

Gene Wiki entry for CEP170 Gene

Additional gene information for CEP170 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP170 Gene

Genomics for CEP170 Gene

GeneHancer (GH) Regulatory Elements for CEP170 Gene

Promoters and enhancers for CEP170 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J243251 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 656.1 +1.0 970 6.7 CLOCK FEZF1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF610 SDCCAG8 CEP170 AKT3 ENSG00000236031 PLD5 ENSG00000232085
GH01J243163 Promoter 0.5 EPDnew 650.2 +92.1 92054 0.1 ENSG00000232085 CEP170 ENSG00000227230
GH01J243283 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -31.2 -31191 5.6 JUN MAX STAT5A BATF ZNF121 POLR2A EED ATF7 FOSL2 ETV6 SDCCAG8 CEP170 FCF1P7 PIR31594
GH01J243262 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.7 -11.3 -11341 8.7 ATF1 ARNT TCF12 ZNF766 ATF7 FOS NCOA1 REST ZNF592 GMEB1 FCF1P7 SDCCAG8 CEP170
GH01J243293 Enhancer 0.7 ENCODE dbSUPER 13.1 -39.5 -39462 2.2 JUND ZNF740 FOS PRDM1 SDCCAG8 CEP170 PIR31594 FCF1P7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP170 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CEP170 gene promoter:
  • Egr-2
  • RSRFC4
  • LCR-F1
  • p300
  • AML1a
  • POU2F1
  • c-Ets-1
  • POU2F1a
  • Lmo2
  • AP-1

Genomic Locations for CEP170 Gene

Genomic Locations for CEP170 Gene
130,979 bases
Minus strand
130,979 bases
Minus strand

Genomic View for CEP170 Gene

Genes around CEP170 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP170 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP170 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP170 Gene

Proteins for CEP170 Gene

  • Protein details for CEP170 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Centrosomal protein of 170 kDa
    Protein Accession:
    Secondary Accessions:
    • O75058
    • Q5SW77
    • Q5SW78
    • Q7LGA9
    • Q86W31
    • Q9UQ08
    • Q9UQ09

    Protein attributes for CEP170 Gene

    1584 amino acids
    Molecular mass:
    175293 Da
    Quaternary structure:
    • Interacts with CCDC68 and CCDC120; leading to recruitment to centrosomes (PubMed:28422092). Interacts with PLK1 (PubMed:15616186). Interacts with NIN (By similarity).
    • Sequence=BAA32315.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CEP170 Gene

    Alternative splice isoforms for CEP170 Gene


neXtProt entry for CEP170 Gene

Post-translational modifications for CEP170 Gene

No data available for DME Specific Peptides for CEP170 Gene

Domains & Families for CEP170 Gene

Gene Families for CEP170 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CEP170 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CEP170 family.
  • Belongs to the CEP170 family.
genes like me logo Genes that share domains with CEP170: view

Function for CEP170 Gene

Molecular function for CEP170 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in microtubule organization (PubMed:15616186). Required for centriole subdistal appendage assembly (PubMed:28422092).

Phenotypes From GWAS Catalog for CEP170 Gene

Gene Ontology (GO) - Molecular Function for CEP170 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22190034
genes like me logo Genes that share ontologies with CEP170: view
genes like me logo Genes that share phenotypes with CEP170: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP170 Gene

Localization for CEP170 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP170 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle. Note=Associated with the mature mother centriole. Associated with spindle microtubules during mitosis. Localizes to the distal appendage region of the centriole. {ECO:0000269 PubMed:23386061}.

Subcellular locations from

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 CEP170 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (4)
  • Cytosol (2)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP170 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IEA,IDA 23213374
GO:0005819 spindle IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CEP170: view

Pathways & Interactions for CEP170 Gene

SuperPathways for CEP170 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP170 Gene


No data available for Pathways by source and SIGNOR curated interactions for CEP170 Gene

Drugs & Compounds for CEP170 Gene

No Compound Related Data Available

Transcripts for CEP170 Gene

mRNA/cDNA for CEP170 Gene

Unigene Clusters for CEP170 Gene

Centrosomal protein 170kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP170 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d · 11e ^ 12 ^ 13
SP1: - - - - -
SP2: -
SP3: -

Relevant External Links for CEP170 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CEP170 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP170 Gene

Protein differential expression in normal tissues from HIPED for CEP170 Gene

This gene is overexpressed in Brain (29.2), Fetal Brain (18.6), and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CEP170 Gene

Protein tissue co-expression partners for CEP170 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CEP170 Gene:


SOURCE GeneReport for Unigene cluster for CEP170 Gene:


Evidence on tissue expression from TISSUES for CEP170 Gene

  • Nervous system(4.9)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with CEP170: view

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 CEP170 Gene

Orthologs for CEP170 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP170 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CEP170 34 33
  • 99.77 (n)
(Bos Taurus)
Mammalia CEP170 34 33
  • 92.89 (n)
(Canis familiaris)
Mammalia CEP170 34 33
  • 92.2 (n)
(Mus musculus)
Mammalia Cep170 16 34 33
  • 88.17 (n)
(Rattus norvegicus)
Mammalia Cep170 33
  • 86.64 (n)
(Monodelphis domestica)
Mammalia CEP170 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia CEP170 34
  • 79 (a)
(Gallus gallus)
Aves CEP170 34 33
  • 77.86 (n)
(Anolis carolinensis)
Reptilia CEP170 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC779465 33
  • 66.97 (n)
Str.15920 33
(Danio rerio)
Actinopterygii cep170a 34 33
  • 60.27 (n)
cep170b 34
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
Species where no ortholog for CEP170 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP170 Gene

Gene Tree for CEP170 (if available)
Gene Tree for CEP170 (if available)
Evolutionary constrained regions (ECRs) for CEP170: view image

Paralogs for CEP170 Gene

Paralogs for CEP170 Gene

(3) SIMAP similar genes for CEP170 Gene using alignment to 15 proteins:

  • CE170_HUMAN
  • A6H8X9_HUMAN
  • E5RG47_HUMAN
  • H0Y2V6_HUMAN
  • H0Y4T4_HUMAN
  • H0YB66_HUMAN
  • H0YB92_HUMAN
  • Q6AZE1_HUMAN Pseudogenes for CEP170 Gene

genes like me logo Genes that share paralogs with CEP170: view

Variants for CEP170 Gene

Sequence variations from dbSNP and Humsavar for CEP170 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs113193158 uncertain-significance, Bardet-Biedl syndrome, Renal dysplasia and retinal aplasia 243,256,170(-) G/A/T upstream_transcript_variant
rs3904682 benign, not specified, Bardet-Biedl syndrome, Renal dysplasia and retinal aplasia 243,256,127(-) T/A/G upstream_transcript_variant
rs547776191 uncertain-significance, Renal dysplasia and retinal aplasia, Bardet-Biedl syndrome 243,256,044(-) C/A upstream_transcript_variant
rs768318766 uncertain-significance, Renal dysplasia and retinal aplasia, Bardet-Biedl syndrome 243,256,053(-) C/T upstream_transcript_variant
rs886046327 uncertain-significance, Renal dysplasia and retinal aplasia, Bardet-Biedl syndrome 243,256,043(-) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CEP170 Gene

Variant ID Type Subtype PubMed ID
esv32774 CNV gain 17666407
esv3589386 CNV gain 21293372
esv3589390 CNV loss 21293372
nsv1001378 CNV gain 25217958
nsv1001488 CNV loss 25217958
nsv1145414 CNV deletion 24896259
nsv470790 CNV gain 18288195
nsv517939 CNV gain 19592680
nsv519429 CNV gain 19592680

Variation tolerance for CEP170 Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP170 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP170 Gene

Disorders for CEP170 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CEP170 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinal aplasia
  • amaurosis congenita
  • scurvy
bardet-biedl syndrome
  • biedl-bardet syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CEP170

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CEP170: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP170 Gene

Publications for CEP170 Gene

  1. The forkhead-associated domain protein Cep170 interacts with Polo-like kinase 1 and serves as a marker for mature centrioles. (PMID: 15616186) Guarguaglini G … Nigg EA (Molecular biology of the cell 2005) 2 3 4 58
  2. Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68. (PMID: 28422092) Huang N … Chen J (Nature communications 2017) 3 4 58
  3. Kif3a interacts with Dynactin subunit p150 Glued to organize centriole subdistal appendages. (PMID: 23386061) Kodani A … Reiter JF (The EMBO journal 2013) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. (PMID: 19626040) McCauley JL … Haines JL (Genes and immunity 2009) 3 44 58

Products for CEP170 Gene

Sources for CEP170 Gene

Loading form....