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Aliases for CEP164 Gene

Aliases for CEP164 Gene

  • Centrosomal Protein 164kDa 2 3
  • KIAA1052 4 6
  • NPHP15 3 4
  • Centrosomal Protein Of 164 KDa 3
  • Cep164 4

External Ids for CEP164 Gene

Previous GeneCards Identifiers for CEP164 Gene

  • GC11P116704
  • GC11P117198
  • GC11P113132

Summaries for CEP164 Gene

Entrez Gene Summary for CEP164 Gene

  • This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for CEP164 Gene

CEP164 (Centrosomal Protein 164kDa) is a Protein Coding gene. Diseases associated with CEP164 include nephronophthisis 15 and senior-loken syndrome-1. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot for CEP164 Gene

  • Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1.

Gene Wiki entry for CEP164 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP164 Gene

Genomics for CEP164 Gene

Regulatory Elements for CEP164 Gene

Transcription factor binding sites by QIAGEN in the CEP164 gene promoter:

Genomic Location for CEP164 Gene

Start:
117,314,557 bp from pter
End:
117,413,268 bp from pter
Size:
98,712 bases
Orientation:
Plus strand

Genomic View for CEP164 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEP164 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP164 Gene

Proteins for CEP164 Gene

  • Protein details for CEP164 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPV0-CE164_HUMAN
    Recommended name:
    Centrosomal protein of 164 kDa
    Protein Accession:
    Q9UPV0
    Secondary Accessions:
    • Q6PKH9
    • Q7Z2X9
    • Q9NVS0
    • Q9UFJ6

    Protein attributes for CEP164 Gene

    Size:
    1460 amino acids
    Molecular mass:
    164314 Da
    Quaternary structure:
    • Interacts (via N-terminus) with ATRIP. Interacts with ATM, ATR and MDC1. Interacts with XPA (via N-terminus) upon UV irradiation. Interacts with CEP83, CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4.
    SequenceCaution:
    • Sequence=AAH00602.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH54015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA83004.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91677.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB56023.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP164 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP164 Gene

Proteomics data for CEP164 Gene at MOPED

Post-translational modifications for CEP164 Gene

  • Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation, hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced phosphorylation.
  • Ubiquitination at Lys1359 and Lys1362
  • Modification sites at PhosphoSitePlus

Other Protein References for CEP164 Gene

No data available for DME Specific Peptides for CEP164 Gene

Domains for CEP164 Gene

Protein Domains for CEP164 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP164 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UPV0

UniProtKB/Swiss-Prot:

CE164_HUMAN :
  • Q9UPV0
Domain:
  • Contains 1 WW domain.
genes like me logo Genes that share domains with CEP164: view

No data available for Gene Families for CEP164 Gene

Function for CEP164 Gene

Molecular function for CEP164 Gene

UniProtKB/Swiss-Prot Function: Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1.

Gene Ontology (GO) - Molecular Function for CEP164 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22863007
genes like me logo Genes that share ontologies with CEP164: view

Phenotypes for CEP164 Gene

GenomeRNAi human phenotypes for CEP164:
genes like me logo Genes that share phenotypes with CEP164: view

Animal Model Products

CRISPR Products

miRNA for CEP164 Gene

miRTarBase miRNAs that target CEP164

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP164

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CEP164 Gene

Localization for CEP164 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP164 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus. Note=Localizes specifically to very distally located appendage structures on the mature centriole from which initiate PC formation. Persisted at centrioles throughout mitosis. Expressed in chromatin-enriched nuclear fraction of HeLa cells. In response to DNA damage, it translocates to nuclear foci that contain the DNA damage response proteins KAT5/TIP60 and CHEK1.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP164 Gene COMPARTMENTS Subcellular localization image for CEP164 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for CEP164 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with CEP164: view

Pathways for CEP164 Gene

genes like me logo Genes that share pathways with CEP164: view

Gene Ontology (GO) - Biological Process for CEP164 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0006281 DNA repair IEA --
GO:0006996 organelle organization TAS --
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with CEP164: view

Transcripts for CEP164 Gene

Unigene Clusters for CEP164 Gene

Centrosomal protein 164kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP164

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CEP164
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP164 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
SP1:
SP2: - - - - - - - - - - - - - -
SP3:
SP4:
SP5:

ExUns: 24b ^ 25a · 25b · 25c · 25d ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b
SP1: -
SP2: - - - - -
SP3: - -
SP4:
SP5: -

Relevant External Links for CEP164 Gene

GeneLoc Exon Structure for
CEP164
ECgene alternative splicing isoforms for
CEP164

Expression for CEP164 Gene

mRNA expression in normal human tissues for CEP164 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEP164 Gene

SOURCE GeneReport for Unigene cluster for CEP164 Gene Hs.504009

mRNA Expression by UniProt/SwissProt for CEP164 Gene

Q9UPV0-CE164_HUMAN
Tissue specificity: Expressed in several cell lines.
genes like me logo Genes that share expressions with CEP164: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CEP164 Gene

Orthologs for CEP164 Gene

This gene was present in the common ancestor of animals.

Orthologs for CEP164 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP164 35
  • 99.09 (n)
  • 98.69 (a)
CEP164 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEP164 35
  • 81.71 (n)
  • 73.99 (a)
CEP164 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP164 35
  • 82.2 (n)
  • 75.14 (a)
CEP164 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep164 35
  • 73.81 (n)
  • 65.58 (a)
Cep164 16
Cep164 36
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEP164 36
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 46 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
-- 36
  • 22 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cep164 35
  • 76.22 (n)
  • 67.98 (a)
chicken
(Gallus gallus)
Aves CEP164 35
  • 60.84 (n)
  • 52.25 (a)
CEP164 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP164 36
  • 32 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep164 35
  • 52.06 (n)
  • 42.09 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01087562.1 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9170 36
  • 17 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12255 35
Species with no ortholog for CEP164:
  • 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)
  • 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 CEP164 Gene

ENSEMBL:
Gene Tree for CEP164 (if available)
TreeFam:
Gene Tree for CEP164 (if available)

Paralogs for CEP164 Gene

Selected SIMAP similar genes for CEP164 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for CEP164 Gene

genes like me logo Genes that share paralogs with CEP164: view

No data available for Paralogs for CEP164 Gene

Variants for CEP164 Gene

Sequence variations from dbSNP and Humsavar for CEP164 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs8258 -- 117,412,960(-) AAGCC(A/G)TCATG utr-variant-3-prime
rs9163 -- 117,413,092(-) GGGCC(A/G)GGCAC utr-variant-3-prime
rs471832 -- 117,342,534(-) ccacc(A/C)ttgca intron-variant
rs474806 -- 117,325,304(+) ggtct(C/T)gagct intron-variant
rs474891 -- 117,341,621(-) CAACA(A/C)AATAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP164 Gene

Variant ID Type Subtype PubMed ID
nsv517908 CNV Loss 19592680
esv2745120 CNV Deletion 23290073
esv2678884 CNV Deletion 23128226
nsv39581 CNV Loss 16902084

Relevant External Links for CEP164 Gene

HapMap Linkage Disequilibrium report
CEP164
Human Gene Mutation Database (HGMD)
CEP164

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP164 Gene

Disorders for CEP164 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for CEP164 Gene including...

Search for CEP164 Gene in MalaCards »

(1) OMIM Diseases for CEP164 Gene (614848)

UniProtKB/Swiss-Prot

CE164_HUMAN
  • Nephronophthisis 15 (NPHP15) [MIM:614845]: An autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. {ECO:0000269 PubMed:22863007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CEP164 Gene

Relevant External Links for CEP164

Genetic Association Database (GAD)
CEP164
genes like me logo Genes that share disorders with CEP164: view

Publications for CEP164 Gene

  1. Cep164, a novel centriole appendage protein required for primary cilium formation. (PMID: 17954613) Graser S. … Nigg E.A. (J. Cell Biol. 2007) 3 4 23
  2. Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1. (PMID: 18283122) Sivasubramaniam S. … Lee E.Y. (Genes Dev. 2008) 3 4 23
  3. UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. (PMID: 19197159) Pan Y.R. … Lee E.Y. (Cell Cycle 2009) 3 4 23
  4. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 2 3 4
  5. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4

Products for CEP164 Gene

  • antibodies-online peptides for CEP164
  • antibodies-online antibodies for CEP164
  • antibodies-online kits for CEP164

Sources for CEP164 Gene

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