CEP55 (centrosomal protein 55)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55165
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 55
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP55
Synonyms (NCBI Gene) Gene synonyms aliases
C10orf3, CT111, MARCH, URCC6
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.33
SNPs SNP information provided by dbSNP.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(446)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
TSG101 Unknown 18948538
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(26)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610000 1161 ENSG00000138180
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hydranencephaly with renal aplasia-dysplasia multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome rs201430235, rs141458677, rs1169095680 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Encephalopathy Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 N/A N/A ClinVar
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Show/Hide Text Mining Associations (70)
Associations from Text Mining Disease 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