CEP55
entrez
55165
canonical
uniprot
Q53EZ4
canonical
ensembl
ENSG00000138180
resolver
ensp
ENSP00000360540
resolver
ensp
ENSP00000567402
resolver
genesymbol
CEP55
resolver
genesymbol_syn
C10orf3
resolver
genesymbol_syn
URCC6
resolver
hgnc
HGNC:1161
resolver
uniprot
B2RDG8
resolver
uniprot
D3DR37
resolver
uniprot
Q32WF5
resolver
uniprot
Q3MV20
resolver
uniprot
Q5VY28
resolver
uniprot
Q6N034
resolver
uniprot
Q96H32
resolver
uniprot
Q9NVS7
resolver
uniprot_entry
CEP55_HUMAN
resolver
uniprot_sec
B2RDG8
resolver
uniprot_sec
D3DR37
resolver
uniprot_sec
Q32WF5
resolver
uniprot_sec
Q3MV20
resolver
uniprot_sec
Q5VY28
resolver
uniprot_sec
Q6N034
resolver
uniprot_sec
Q96H32
resolver
uniprot_sec
Q9NVS7
resolver
amino_acid_sequence
MSSRSTKDLIKSKWGSKPSNSKSETTLEKLKGEIAHLKTSVDEITSGKGKLTDKERHRLLEKIRVLEAEKEKNAYQLTEKDKEIQRLRDQLKARYSTTTLLEQLEETTREGERREQVLKALSEEKDVLKQQLSAATSRIAELESKTNTLRLSQTVAPNCFNSSINNIHEMEIQLKDALEKNQQWLVYDQQREVYVKGLLAKIFELEKKTETAAHSLPQQTKKPESEGYLQEEKQKCYNDLLASAKKDLEVERQTITQLSFELSEFRRKYEETQKEVHNLNQLLYSQRRADVQHLEDDRHKTEKIQKLREENDIARGKLEEEKKRSEELLSQVQFLYTSLLKQQEEQTRVALLEQQMQACTLDFENEKLDRQHVQHQLHVILKELRKARNQITQLESLKQLHEFAITEPLVTFQGETENREKVAASPKSPTAALNESLVECPKCNIQYPATEHRDLLVHVEYCSK
uniprot
proteins
disease_involvement
DISEASE: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (MARCH) [MIM:236500]: An autosomal recessive, congenital disease characterized by severe hydranencephaly with multinucleated neurons, renal aplasia or dysplasia, and hypoplastic kidneys. Hydranencephaly is an anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. MARCH results in death in utero or in the perinatal period. {ECO:0000269|PubMed:28264986, ECO:0000269|PubMed:28295209}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 nucleation (PubMed:16198290). Plays a role in the development of the brain and kidney (PubMed:28264986). {ECO:0000269|PubMed:16198290, ECO:0000269|PubMed:17853893, ECO:0000269|PubMed:28264986}.
uniprot
proteins
mass_dalton
54178
uniprot
proteins
mutagenesis
MUTAGEN 184; /note="W->A: Abolishes interaction with PDCD6IP."; /evidence="ECO:0000269|PubMed:18948538"; MUTAGEN 187; /note="Y->A: Abolishes interaction with PDCD6IP."; /evidence="ECO:0000269|PubMed:18948538"; MUTAGEN 188; /note="D->A: Diminishes interaction with PDCD6IP."; /evidence="ECO:0000269|PubMed:18948538"; MUTAGEN 191; /note="R->A: Abolishes interaction with PDCD6IP."; /evidence="ECO:0000269|PubMed:18948538"; MUTAGEN 192; /note="E->A: Abolishes interaction with PDCD6IP."; /evidence="ECO:0000269|PubMed:18948538"; MUTAGEN 396; /note="S->A: No effect on phosphorylation in mitotic cells."; /evidence="ECO:0000269|PubMed:16198290"; MUTAGEN 425; /note="S->A: Partial loss of phosphorylation in mitotic cells. Complete loss of phosphorylation in mitotic cells; when associated with A-428. Remains associated with the centrosome throughout mitosis; when associated with A-428. Arrests mitotic cells at the midbody stage; when associated with A-428 and A-436."; /evidence="ECO:0000269|PubMed:16198290"; MUTAGEN 428; /note="S->A: Partial loss of phosphorylation in mitotic cells. Complete loss of phosphorylation in mitotic cells; when associated with A-425. Remains associated with the centrosome throughout mitosis; when associated with A-425. Arrests mitotic cells at the midbody stage; when associated with A-425 and A-436."; /evidence="ECO:0000269|PubMed:16198290"; MUTAGEN 436; /note="S->A: No effect on phosphorylation in mitotic cells. Arrests mitotic cells at the midbody stage; when associated with A-425 and A-428."; /evidence="ECO:0000269|PubMed:16198290
uniprot
proteins
post_translational_modification
PTM: There is a hierachy of phosphorylation, where both Ser-425 and Ser-428 are phosphorylated at the onset of mitosis, prior to Ser-436. Phosphorylation at Ser-425 and Ser-428 is required for dissociation from the centrosome at the G2/M boundary. Phosphorylation at the 3 sites, Ser-425, Ser-428 and Ser-436, is required for protein function at the final stages of cell division to complete cytokinesis successfully. {ECO:0000269|PubMed:16198290}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16198290
uniprot
proteins
pubmed
16406728
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17556548
uniprot
proteins
pubmed
17853893
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18641129
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
18948538
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21310966
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25659891
uniprot
proteins
pubmed
28264986
uniprot
proteins
pubmed
28295209
uniprot
proteins
pubmed
36825683
uniprot
proteins
pubmed
41361016
uniprot
proteins
sequence_length
464
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28264986}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:16198290}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16198290}. Cleavage furrow {ECO:0000269|PubMed:16198290}. Midbody, Midbody ring {ECO:0000269|PubMed:16198290, ECO:0000269|PubMed:17853893, ECO:0000269|PubMed:18641129, ECO:0000269|PubMed:21310966, ECO:0000269|PubMed:28264986}. Midbody {ECO:0000269|PubMed:36825683, ECO:0000269|PubMed:41361016}. Note=Present at the centrosomes at interphase. A small portion is associated preferentially with the mother centriole, whereas the majority localizes to the pericentriolar material. During mitosis, loses affinity for the centrosome at the onset of prophase and diffuses throughout the cell. This dissociation from the centrosome is phosphorylation-dependent. May remain localized at the centrosome during mitosis in certain cell types. Appears at the cleavage furrow in late anaphase and in the midbody in cytokinesis. {ECO:0000269|PubMed:16198290}.
uniprot
proteins