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Protein

Centrosomal protein of 55 kDa

Gene

CEP55

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).3 Publications

GO - Biological processi

  • cell separation after cytokinesis Source: UniProtKB
  • establishment of protein localization Source: UniProtKB
  • mitotic cytokinesis Source: MGI

Keywordsi

Molecular functionDevelopmental protein
Biological processCell cycle, Cell division, Mitosis

Enzyme and pathway databases

SIGNORiQ53EZ4.

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 55 kDaImported
Short name:
Cep55
Alternative name(s):
Up-regulated in colon cancer 6
Gene namesi
Name:CEP55Imported
Synonyms:C10orf3Imported, URCC6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000138180.15.
HGNCiHGNC:1161. CEP55.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (MARCH)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:236500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07936386 – 464Missing in MARCH. 1 PublicationAdd BLAST379
Natural variantiVAR_079364425 – 464Missing in MARCH; loss of protein localization to midbody ring; loss of function; fails to rescue craniofacial development when expressed in a zebrafish heterologous system. 1 PublicationAdd BLAST40

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi184W → A: Abolishes interaction with PDCD6IP. 1 Publication1
Mutagenesisi187Y → A: Abolishes interaction with PDCD6IP. 1 Publication1
Mutagenesisi188D → A: Diminishes interaction with PDCD6IP. 1 Publication1
Mutagenesisi191R → A: Abolishes interaction with PDCD6IP. 1 Publication1
Mutagenesisi192E → A: Abolishes interaction with PDCD6IP. 1 Publication1
Mutagenesisi396S → A: No effect on phosphorylation in mitotic cells. 1 Publication1
Mutagenesisi425S → 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. 1 Publication1
Mutagenesisi428S → 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. 1 Publication1
Mutagenesisi436S → A: No effect on phosphorylation in mitotic cells. Arrests mitotic cells at the midbody stage; when associated with A-425 and A-428. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55165.
MIMi236500. phenotype.
OpenTargetsiENSG00000138180.
PharmGKBiPA25475.

Polymorphism and mutation databases

BioMutaiCEP55.
DMDMi296439403.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000897771 – 464Centrosomal protein of 55 kDaAdd BLAST464

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei96PhosphoserineBy similarity1
Modified residuei425Phosphoserine; by CDK1 and MAPK1Combined sources1 Publication1
Modified residuei428Phosphoserine; by CDK1 and MAPK1Combined sources1 Publication1
Modified residuei430PhosphothreonineCombined sources1
Modified residuei436Phosphoserine; by PLK1Combined sources1 Publication1

Post-translational modificationi

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.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ53EZ4.
MaxQBiQ53EZ4.
PaxDbiQ53EZ4.
PeptideAtlasiQ53EZ4.
PRIDEiQ53EZ4.

PTM databases

iPTMnetiQ53EZ4.
PhosphoSitePlusiQ53EZ4.

Expressioni

Tissue specificityi

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, intestine and muscles (at protein level) (PubMed:28295209, PubMed:28264986). Widely expressed, mostly in proliferative tissues. Highly expressed in testis. Intermediate levels in adult and fetal thymus, as well as in various cancer cell lines. Low levels in different parts of the digestive tract, bone marrow, lymph nodes, placenta, fetal heart and fetal spleen. Hardly detected in brain.4 Publications

Gene expression databases

BgeeiENSG00000138180.
CleanExiHS_CEP55.
ExpressionAtlasiQ53EZ4. baseline and differential.
GenevisibleiQ53EZ4. HS.

Organism-specific databases

HPAiHPA023430.

Interactioni

Subunit structurei

Homodimer (PubMed:16406728). Interacts (phosphorylated on Ser-425 and Ser-428) with PLK1 (PubMed:16198290). Interacts with AKAP9/CG-NAP; the interaction occurs in interphase and is lost upon mitotic entry (PubMed:16198290). Interacts with PCNT/Kendrin; the interaction occurs in interphase and is lost upon mitotic entry (PubMed:16198290). Directly interacts with PDCD6IP; this interaction is required for PDCD6IP targeting to the midbody; CEP55 binds PDCD6IP in a 2:1 stoichiometry; PDCD6IP competes with TSG101 for the same binding site (PubMed:17853893, PubMed:17556548, PubMed:18641129, PubMed:18948538). Interacts with TSG101; TSG101 competes with PDCD6IP for the same binding site; interaction is required for cytokinesis but not for viral budding (PubMed:17853893, PubMed:17556548, PubMed:18948538). Interacts with MVB12A, VPS37B, VPS37C and VPS28 (PubMed:17853893).6 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi120465. 105 interactors.
DIPiDIP-44581N.
ELMiQ53EZ4.
IntActiQ53EZ4. 99 interactors.
MINTiMINT-4994059.
STRINGi9606.ENSP00000360540.

Structurei

Secondary structure

1464
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi166 – 209Combined sources44

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3E1RX-ray2.00A/B160-217[»]
3WUTX-ray2.30A/B/D/E/G/H/J/K160-217[»]
3WUUX-ray2.90A/B/D/E/G/H/J/K160-217[»]
3WUVX-ray2.79A/B/D/E/G/H/J/K/M/N/P/Q160-217[»]
ProteinModelPortaliQ53EZ4.
SMRiQ53EZ4.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ53EZ4.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni157 – 236Interaction with TSG101Add BLAST80
Regioni160 – 214Interaction with PDCD6IPAdd BLAST55
Regioni355 – 464Required for localization to the interphase centrosome and to the midbody during cytokinesis1 PublicationAdd BLAST110

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili22 – 186Sequence analysisAdd BLAST165
Coiled coili238 – 337Sequence analysisAdd BLAST100
Coiled coili374 – 403Sequence analysisAdd BLAST30

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFBZ. Eukaryota.
ENOG41120Y2. LUCA.
GeneTreeiENSGT00510000047961.
HOVERGENiHBG081092.
InParanoidiQ53EZ4.
KOiK16456.
OMAiYDQQREV.
OrthoDBiEOG091G065Y.
PhylomeDBiQ53EZ4.
TreeFamiTF331107.

Family and domain databases

InterProiView protein in InterPro
IPR022008. EABR.
PfamiView protein in Pfam
PF12180. EABR. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q53EZ4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSSRSTKDLI KSKWGSKPSN SKSETTLEKL KGEIAHLKTS VDEITSGKGK
60 70 80 90 100
LTDKERHRLL EKIRVLEAEK EKNAYQLTEK DKEIQRLRDQ LKARYSTTTL
110 120 130 140 150
LEQLEETTRE GERREQVLKA LSEEKDVLKQ QLSAATSRIA ELESKTNTLR
160 170 180 190 200
LSQTVAPNCF NSSINNIHEM EIQLKDALEK NQQWLVYDQQ REVYVKGLLA
210 220 230 240 250
KIFELEKKTE TAAHSLPQQT KKPESEGYLQ EEKQKCYNDL LASAKKDLEV
260 270 280 290 300
ERQTITQLSF ELSEFRRKYE ETQKEVHNLN QLLYSQRRAD VQHLEDDRHK
310 320 330 340 350
TEKIQKLREE NDIARGKLEE EKKRSEELLS QVQFLYTSLL KQQEEQTRVA
360 370 380 390 400
LLEQQMQACT LDFENEKLDR QHVQHQLHVI LKELRKARNQ ITQLESLKQL
410 420 430 440 450
HEFAITEPLV TFQGETENRE KVAASPKSPT AALNESLVEC PKCNIQYPAT
460
EHRDLLVHVE YCSK
Length:464
Mass (Da):54,178
Last modified:May 18, 2010 - v3
Checksum:iA652F86EBCE46A51
GO
Isoform 2 (identifier: Q53EZ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     389-400: NQITQLESLKQL → KNNTVGILETAS
     401-464: Missing.

Note: No experimental confirmation available.
Show »
Length:400
Mass (Da):46,857
Checksum:i61FCFE0A0965559F
GO

Sequence cautioni

The sequence BAA91670 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti155V → A in BAD97215 (Ref. 4) Curated1
Sequence conflicti204E → G in BAD97215 (Ref. 4) Curated1
Sequence conflicti298R → G in CAE45837 (PubMed:17974005).Curated1
Sequence conflicti334F → S in AAX14687 (PubMed:16406728).Curated1
Sequence conflicti334F → S in BAA91670 (PubMed:14702039).Curated1
Sequence conflicti435E → G in AAX14687 (PubMed:16406728).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02655957H → Q Polymorphism; no effect on protein localization to midbody ring. 3 PublicationsCorresponds to variant dbSNP:rs3740370Ensembl.1
Natural variantiVAR_07936386 – 464Missing in MARCH. 1 PublicationAdd BLAST379
Natural variantiVAR_02299699T → ACombined sources7 PublicationsCorresponds to variant dbSNP:rs7080916Ensembl.1
Natural variantiVAR_056791236C → R. Corresponds to variant dbSNP:rs7072484Ensembl.1
Natural variantiVAR_022997378H → L Polymorphism; no effect on protein localization to midbody ring; rescues craniofacial development when expressed in a zebrafish heterologous system. 5 PublicationsCorresponds to variant dbSNP:rs2293277Ensembl.1
Natural variantiVAR_079364425 – 464Missing in MARCH; loss of protein localization to midbody ring; loss of function; fails to rescue craniofacial development when expressed in a zebrafish heterologous system. 1 PublicationAdd BLAST40

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014750389 – 400NQITQ…SLKQL → KNNTVGILETAS in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_014751401 – 464Missing in isoform 2. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY788918 mRNA. Translation: AAX14687.1.
AB091343 mRNA. Translation: BAE45243.1.
AK001402 mRNA. Translation: BAA91670.1. Different initiation.
AK315536 mRNA. Translation: BAG37915.1.
AK223495 mRNA. Translation: BAD97215.1.
BX640718 mRNA. Translation: CAE45837.1.
AL356214 Genomic DNA. Translation: CAH72324.1.
CH471066 Genomic DNA. Translation: EAW50071.1.
CH471066 Genomic DNA. Translation: EAW50072.1.
BC008947 mRNA. Translation: AAH08947.1.
CCDSiCCDS7428.1. [Q53EZ4-1]
RefSeqiNP_001120654.1. NM_001127182.1.
NP_060601.3. NM_018131.4.
UniGeneiHs.14559.

Genome annotation databases

EnsembliENST00000371485; ENSP00000360540; ENSG00000138180. [Q53EZ4-1]
GeneIDi55165.
KEGGihsa:55165.
UCSCiuc001kiq.4. human. [Q53EZ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCEP55_HUMAN
AccessioniPrimary (citable) accession number: Q53EZ4
Secondary accession number(s): B2RDG8
, D3DR37, Q32WF5, Q3MV20, Q5VY28, Q6N034, Q96H32, Q9NVS7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: May 18, 2010
Last modified: November 22, 2017
This is version 131 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references