Aliases for CEP164 Gene
Aliases for CEP164 Gene
External Ids for CEP164 Gene
- HGNC: 29182
- Entrez Gene: 22897
- Ensembl: ENSG00000110274
- OMIM: 614848
- UniProtKB: Q9UPV0
Previous GeneCards Identifiers for CEP164 Gene
- GC11P116704
- GC11P117198
- GC11P113132
Summaries 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 164) is a Protein Coding gene. Diseases associated with CEP164 include Nephronophthisis 15 and Senior-Loken Syndrome-1. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance.
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.
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
Enhancers for CEP164 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around CEP164 on UCSC Golden Path with GeneCards custom track
Promoters for CEP164 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around CEP164 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CEP164 gene promoter:
Regulatory Element Products
Genomic Location for CEP164 Gene
- Chromosome:
- 11
- 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
Genes around CEP164 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by Ensembl
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC
CEP164 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for CEP164 Gene
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 Lys 1359 and Lys 1362
- Modification sites at PhosphoSitePlus
Other Protein References for CEP164 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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No data available for DME Specific Peptides for CEP164 Gene
Domains & Families for CEP164 Gene
Suggested Antigen Peptide Sequences for CEP164 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UPV0- Domain:
-
- Contains 1 WW domain.
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.
Phenotypes for CEP164 Gene
- MGI mutant phenotypes for CEP164:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CEP164:
Animal Models for CEP164 Gene
- MGI Knock Outs for CEP164:
-
- Cep164 tm1b(EUCOMM)Wtsi
Animal Model Products
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miRNA for CEP164 Gene
- miRTarBase miRNAs that target CEP164
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 (PubMed:26337392). 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. {ECO:0000269 PubMed:26337392}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| extracellular | 5 |
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
Pathways & Interactions for CEP164 Gene
More details on SuperPathways for CEP164| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of PLK1 Activity at G2/M Transition |
.51
|
|
| 2 | Organelle biogenesis and maintenance | ||
| 3 | Cell Cycle, Mitotic |
.83
|
Pathways by source for CEP164 Gene
13 Reactome pathways for CEP164 Gene
Interacting Proteins for CEP164 Gene
Selected Interacting proteins:
ENSP00000278935
Q9UPV0-CE164_HUMAN
for CEP164 Gene via
STRING
UniProtKB
I2D
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000278 | mitotic cell cycle | TAS | -- |
| GO:0051301 | cell division | IEA | -- |
No data available for SIGNOR curated interactions for CEP164 Gene
Transcripts for CEP164 Gene
mRNA/cDNA for CEP164 Gene
- (27) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (118) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CEP164 Gene
CRISPR Products
-
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-
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miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for CEP164 gene
Clone Products
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-
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- NM_014956
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Flow Cytometry Products
| 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: | - |
Expression for CEP164 Gene
This gene is overexpressed in Fetal gut (21.7), Liver (14.4), and Colon (7.9).
Integrated Proteomics: protein expression in normal tissues and cell lines 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.
Primer Products
-
OriGene qPCR primer pairs for CEP164
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for CEP164 Gene
Orthologs for CEP164 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | CEP164 35 |
|
||
| CEP164 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | CEP164 35 |
|
||
| CEP164 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Cep164 35 |
|
||
| Cep164 16 |
|
||||
| Cep164 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | CEP164 35 |
|
||
| CEP164 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Cep164 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CEP164 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 36 |
|
OneToMany | |
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | CEP164 35 |
|
||
| CEP164 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | CEP164 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cep164 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CABZ01087562.1 36 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG9170 36 |
|
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)
Paralogs for CEP164 Gene
(1) SIMAP similar genes for CEP164 Gene using alignment to 6 proteins:
Pseudogenes.org Pseudogenes for CEP164 Gene
No data available for Paralogs for CEP164 Gene
Variants for CEP164 Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs490262 | - | 117,351,876(+) | TCGGA(A/G)CTTGG | nc-transcript-variant, upstream-variant-2KB, reference, missense | |
| rs2305830 | - | 117,395,596(+) | GCACA(C/G)CCACC | nc-transcript-variant, reference, missense | |
| rs573455 | - | 117,397,168(-) | TCTGC(C/T)GCACA | nc-transcript-variant, reference, missense | |
| VAR_068503 | Nephronophthisis 15 (NPHP15) | ||||
| VAR_068504 | Nephronophthisis 15 (NPHP15) |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv517908 | CNV | Loss | 19592680 |
| esv2745120 | CNV | Deletion | 23290073 |
| esv2678884 | CNV | Deletion | 23128226 |
| nsv39581 | CNV | Loss | 16902084 |
Residual Variation Intolerance Score:
81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.82;
91.73% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CEP164 Gene
- Human Gene Mutation Database (HGMD)
- CEP164
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP164 Gene
Disorders for CEP164 Gene
(7) MalaCards diseases for CEP164 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nephronophthisis 15 |
|
|
| senior-loken syndrome-1 |
|
|
| nephronophthisis |
|
|
| spinocerebellar ataxia 11 |
|
|
| leber congenital amaurosis |
|
|
Search CEP164 in MalaCards
View complete list of genes associated with diseases
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.
Relevant External Links for CEP164
No data available for Genatlas for CEP164 Gene
Publications for CEP164 Gene
- Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4 67
- 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 23
- 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 23
- Cep164, a novel centriole appendage protein required for primary cilium formation. (PMID: 17954613) Graser S. … Nigg E.A. (J. Cell Biol. 2007) 3 23
- 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
Products for CEP164 Gene
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Sources for CEP164 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
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