CEP55 (centrosomal protein 55)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 55165
Gene name Centrosomal protein 55
Gene symbol CEP55
Synonyms (NCBI Gene)
C10orf3CT111MARCHURCC6
Chromosome 10
Chromosome location 10q23.33
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs141458677 C>T Pathogenic 5 prime UTR variant, stop gained, coding sequence variant
rs201430235 C>A Pathogenic Coding sequence variant, stop gained
rs1002854345 T>A,C Likely-pathogenic Splice donor variant
rs1169095680 ->A Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
446
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT020611 hsa-miR-155-5p Proteomics 18668040
MIRT024828 hsa-miR-215-5p Microarray 19074876
MIRT026277 hsa-miR-192-5p Microarray 19074876
MIRT026998 hsa-miR-103a-3p Sequencing 20371350
MIRT031510 hsa-miR-16-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
TSG101 Unknown 18948538
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000281 Process Mitotic cytokinesis IBA
GO:0000281 Process Mitotic cytokinesis IEA
GO:0000281 Process Mitotic cytokinesis IGI 19638580
GO:0005515 Function Protein binding IPI 16189514, 17853893, 18940611, 19549727, 20176808, 21516116, 25416956, 25910212, 26638075, 26871637, 27107012, 31515488, 32296183, 32707033, 32814053, 33961781, 35156780, 35271311, 36012204, 37100772
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610000 1161 ENSG00000138180
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53EZ4
Protein name Centrosomal protein of 55 kDa (Cep55) (Up-regulated in colon cancer 6)
Protein function Plays a role in mitotic exit and cytokinesis (PubMed:16198290, PubMed:17853893). Recruits PDCD6IP and TSG101 to midbody during cytokinesis. Required for successful completion of cytokinesis (PubMed:17853893). Not required for microtubule nucleat
PDB 3E1R , 3WUT , 3WUU , 3WUV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12180 EABR 171 → 204 TSG101 and ALIX binding domain of CEP55 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in embryonic brain (PubMed:28264986). Expressed in fetal brain ganglionic eminence, kidney tubules and multinucleate neurons in the temporal cortex (PubMed:28264986). Expressed in adult brain, cerebellum, kidney tubules, inte
Sequence 
MSSRSTKDLIKSKWGSKPSNSKSETTLEKLKGEIAHLKTSVDEITSGKGKLTDKERHRLL
EKIRVLEAEKEKNAYQLTEKDKEIQRLRDQLKARYSTTTLLEQLEETTREGERREQVLKA
LSEEKDVLKQQLSAATSRIAELESKTNTLRLSQTVAPNCFNSSINNIHEMEIQLKDALEK
NQQWLVYDQQREVYVKGLLAKIFELEKKTETAAHSLPQQTKKPESEGYLQEEKQKCYNDL
LASAKKDLEVERQTITQLSFELSEFRRKYEETQKEVHNLNQLLYSQRRADVQHLEDDRHK
TEKIQKLREENDIARGKLEEEKKRSEELLSQVQFLYTSLLKQQEEQTRVALLEQQMQACT
LDFENEKLDRQHVQHQLHVILKELRKARNQITQLESLKQLHEFAITEPLVTFQGETENRE
KVAASPKSPTAALNESLVECPKCNIQYPATEHRDLLVHVEYCSK
Sequence length 464
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of prenatal development or birth Likely pathogenic rs2134490704 RCV001814445
CEP55-related disorder Pathogenic; Likely pathogenic rs141458677, rs1297300713 RCV003419872
RCV003983842
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome Likely pathogenic; Pathogenic rs146596670, rs2493944670, rs201430235, rs141458677, rs1169095680, rs1297300713, rs572584581 RCV001375949
RCV003990765
RCV000504576
RCV000504578
RCV000681554
RCV001175199
RCV003222283
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs75139274 RCV005921099
Colorectal cancer Benign rs75139274 RCV005921102
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Uncertain significance rs765188763 RCV000770959
Malignant lymphoma, large B-cell, diffuse Benign rs75139274 RCV005921101
Show/Hide Text Mining Associations (70)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Associate 34993253
Adenocarcinoma of Lung Stimulate 32437446
Adenocarcinoma of Lung Associate 36147635
Adrenocortical Carcinoma Associate 32923148
Ascites Associate 26615423
Azoospermia Inhibit 35219767
Breast Neoplasms Associate 26902787, 28061449, 30108112, 31895772, 34055036, 36930083, 37887301, 39242688
Carcinogenesis Associate 28901457, 35403252
Carcinoma Hepatocellular Associate 28901457, 31011256, 32104698, 32337246, 36120772, 37980163, 38097948, 40255404
Carcinoma Non Small Cell Lung Associate 29532892, 30832674, 34435195, 35549631, 36202977