Aliases for CEP55 Gene

Aliases for CEP55 Gene

  • Centrosomal Protein 55 2 3 5
  • Up-Regulated In Colon Cancer 6 3 4
  • Centrosomal Protein Of 55 KDa 3 4
  • Cancer/Testis Antigen 111 2 3
  • Centrosomal Protein 55kDa 2 3
  • C10orf3 3 4
  • URCC6 3 4
  • Chromosome 10 Open Reading Frame 3 2
  • CT111 3
  • MARCH 3
  • Cep55 4

External Ids for CEP55 Gene

Previous HGNC Symbols for CEP55 Gene

  • C10orf3

Previous GeneCards Identifiers for CEP55 Gene

  • GC10P095247
  • GC10P088884

Summaries for CEP55 Gene

GeneCards Summary for CEP55 Gene

CEP55 (Centrosomal Protein 55) is a Protein Coding gene. Diseases associated with CEP55 include Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly and Meckel Syndrome, Type 1. Among its related pathways are DNA Damage and Cytoskeletal Signaling.

UniProtKB/Swiss-Prot Summary for CEP55 Gene

  • 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).

Gene Wiki entry for CEP55 Gene

Additional gene information for CEP55 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP55 Gene

Genomics for CEP55 Gene

GeneHancer (GH) Regulatory Elements for CEP55 Gene

Promoters and enhancers for CEP55 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J093494 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 513.2 +0.2 171 4.4 ZBTB40 EP300 SIN3A NRF1 POLR2G SP1 PHF8 JUND ZNF10 ZIC2 CEP55 hsa-miR-5095-049 MYOF
GH10J093467 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.1 -20.7 -20722 16.3 CTCF ZSCAN5C TCF12 JUND FOS ZNF10 EP300 ZIC2 REST POLR2A MYOF CEP55 HSALNG0079749
GH10J093455 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 11.7 -35.2 -35153 11.6 ZNF217 TCF12 JUND FOS ZNF10 POLR2A KLF4 CUX1 EP300 GATAD2B MYOF CEP55 PDE6C HSALNG0079749
GH10J093514 Promoter/Enhancer 0.8 Ensembl ENCODE dbSUPER 19.2 +18.8 18812 1.5 SPI1 CEP55 FFAR4 CYP26A1 RF00001-047 RNA5SP323 piR-48553-045
GH10J093412 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.4 -84.0 -84011 6.4 CTCF ZNF316 MAFF MAFK SPI1 GATA3 MAFG SP7 RAD21 SCRT2 MYOF CEP55 HSALNG0079749 RF00017-745
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP55 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP55

Top Transcription factor binding sites by QIAGEN in the CEP55 gene promoter:
  • ATF-2
  • CUTL1
  • Evi-1
  • Nkx6-1
  • TBP
  • TFIID

Genomic Locations for CEP55 Gene

Genomic Locations for CEP55 Gene
chr10:93,496,612-93,529,094
(GRCh38/hg38)
Size:
32,483 bases
Orientation:
Plus strand
chr10:95,256,369-95,288,849
(GRCh37/hg19)
Size:
32,481 bases
Orientation:
Plus strand

Genomic View for CEP55 Gene

Genes around CEP55 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP55 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP55 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP55 Gene

Proteins for CEP55 Gene

  • Protein details for CEP55 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53EZ4-CEP55_HUMAN
    Recommended name:
    Centrosomal protein of 55 kDa
    Protein Accession:
    Q53EZ4
    Secondary Accessions:
    • B2RDG8
    • D3DR37
    • Q32WF5
    • Q3MV20
    • Q5VY28
    • Q6N034
    • Q96H32
    • Q9NVS7

    Protein attributes for CEP55 Gene

    Size:
    464 amino acids
    Molecular mass:
    54178 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=BAA91670.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CEP55 Gene

    Alternative splice isoforms for CEP55 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP55 Gene

Post-translational modifications for CEP55 Gene

  • 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.
  • Ubiquitination at Lys129, Lys145, Lys180, Lys196, Lys222, Lys233, Lys341, Lys367, Lys398, Lys427, and Lys442
  • Modification sites at PhosphoSitePlus

Other Protein References for CEP55 Gene

No data available for DME Specific Peptides for CEP55 Gene

Domains & Families for CEP55 Gene

Gene Families for CEP55 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CEP55 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP55 Gene

GenScript: Design optimal peptide antigens:
  • Up-regulated in colon cancer 6 (CEP55_HUMAN)
  • Centrosomal protein 55kDa, isoform CRA_a (D3DR37_HUMAN)
  • Centrosomal protein 55kDa (Q5VY27_HUMAN)
genes like me logo Genes that share domains with CEP55: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CEP55 Gene

Function for CEP55 Gene

Molecular function for CEP55 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for CEP55 Gene

Gene Ontology (GO) - Molecular Function for CEP55 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CEP55: view
genes like me logo Genes that share phenotypes with CEP55: view

Human Phenotype Ontology for CEP55 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for CEP55 Gene

miRTarBase miRNAs that target CEP55

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP55 Gene

Localization for CEP55 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP55 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cleavage furrow. Midbody, Midbody ring. 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEP55 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
extracellular 3
nucleus 3
endosome 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (3)
  • Midbody (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP55 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 20186884
GO:0005814 centriole IEA --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CEP55: view

Pathways & Interactions for CEP55 Gene

PathCards logo

SuperPathways for CEP55 Gene

SuperPathway Contained pathways
1 Cytoskeletal Signaling
2 DNA Damage
genes like me logo Genes that share pathways with CEP55: view

Pathways by source for CEP55 Gene

2 Cell Signaling Technology pathways for CEP55 Gene

SIGNOR curated interactions for CEP55 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CEP55 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IGI 19638580
GO:0006997 NOT nucleus organization IMP 20616062
GO:0007049 cell cycle IEA --
GO:0007080 NOT mitotic metaphase plate congression IMP 20616062
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with CEP55: view

Drugs & Compounds for CEP55 Gene

No Compound Related Data Available

Transcripts for CEP55 Gene

mRNA/cDNA for CEP55 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP55 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7
SP1:
SP2: -
SP3: - -
SP4: -

Relevant External Links for CEP55 Gene

GeneLoc Exon Structure for
CEP55

Expression for CEP55 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP55 Gene

mRNA differential expression in normal tissues according to GTEx for CEP55 Gene

This gene is overexpressed in Testis (x5.7) and Esophagus - Mucosa (x4.4).

Protein differential expression in normal tissues from HIPED for CEP55 Gene

This gene is overexpressed in Plasma (44.7) and Testis (17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CEP55 Gene



Protein tissue co-expression partners for CEP55 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP55

SOURCE GeneReport for Unigene cluster for CEP55 Gene:

Hs.14559

mRNA Expression by UniProt/SwissProt for CEP55 Gene:

Q53EZ4-CEP55_HUMAN
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, 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.

Evidence on tissue expression from TISSUES for CEP55 Gene

  • Muscle(4.1)
genes like me logo Genes that share expression patterns with CEP55: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP55 Gene

Orthologs for CEP55 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP55 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP55 31 30
  • 99.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CEP55 31 30
  • 90.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CEP55 31 30
  • 88.41 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep55 30
  • 81.1 (n)
mouse
(Mus musculus)
Mammalia Cep55 17 31 30
  • 80.16 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP55 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP55 31
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP55 31 30
  • 62.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP55 31
  • 50 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cep55l 31 30
  • 53.43 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9181 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4811 31
  • 20 (a)
OneToOne
Species where no ortholog for CEP55 was found in the sources mined by GeneCards:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP55 Gene

ENSEMBL:
Gene Tree for CEP55 (if available)
TreeFam:
Gene Tree for CEP55 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP55: view image

Paralogs for CEP55 Gene

No data available for Paralogs for CEP55 Gene

Variants for CEP55 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP55 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
722192 Likely Benign: not provided 93,517,043(+) G/A MISSENSE_VARIANT
734009 Benign: not provided 93,503,223(+) C/T SYNONYMOUS_VARIANT
758695 Likely Benign: not provided 93,528,027(+) C/T SYNONYMOUS_VARIANT
768378 Benign: not provided 93,500,226(+) C/T MISSENSE_VARIANT
780885 Benign: not provided 93,507,042(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CEP55 Gene

Structural Variations from Database of Genomic Variants (DGV) for CEP55 Gene

Variant ID Type Subtype PubMed ID
nsv825521 CNV loss 20364138

Variation tolerance for CEP55 Gene

Residual Variation Intolerance Score: 94.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.64; 89.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP55 Gene

Human Gene Mutation Database (HGMD)
CEP55
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP55

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP55 Gene

Disorders for CEP55 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CEP55 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CEP55 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEP55_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for CEP55

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CEP55: view

No data available for Genatlas for CEP55 Gene

Publications for CEP55 Gene

  1. The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody. (PMID: 16406728) Martinez-Garay I … Kutsche K (Genomics 2006) 3 4 23 54
  2. Cdk1/Erk2- and Plk1-dependent phosphorylation of a centrosome protein, Cep55, is required for its recruitment to midbody and cytokinesis. (PMID: 16198290) Fabbro M … Khanna KK (Developmental cell 2005) 2 3 4 54
  3. An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. (PMID: 30622327) Rawlins LE … Baple EL (European journal of human genetics : EJHG 2019) 2 3 54
  4. A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. (PMID: 28295209) Bondeson ML … Wilbe M (Clinical genetics 2017) 3 4 54
  5. A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. (PMID: 28264986) Frosk P … Davis EE (Journal of medical genetics 2017) 3 4 54

Products for CEP55 Gene

Sources for CEP55 Gene