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Aliases for CEP135 Gene

Aliases for CEP135 Gene

  • Centrosomal Protein 135 2 3 5
  • Centrosomal Protein 4 2 3 4
  • KIAA0635 2 3 4
  • Centrosomal Protein 135kDa 2 3
  • CEP4 3 4
  • Centrosomal Protein Of 135 KDa 3
  • Centrosome Protein Cep135 3
  • Cep135 4
  • MCPH8 3

External Ids for CEP135 Gene

Previous HGNC Symbols for CEP135 Gene

  • KIAA0635
  • CEP4

Previous GeneCards Identifiers for CEP135 Gene

  • GC04P056657
  • GC04P056509
  • GC04P056815
  • GC04P052768

Summaries for CEP135 Gene

Entrez Gene Summary for CEP135 Gene

  • This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]

GeneCards Summary for CEP135 Gene

CEP135 (Centrosomal Protein 135) is a Protein Coding gene. Diseases associated with CEP135 include Microcephaly 8, Primary, Autosomal Recessive and Autosomal Recessive Primary Microcephaly. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. GO annotations related to this gene include microtubule binding and protein C-terminus binding. An important paralog of this gene is TSGA10.

UniProtKB/Swiss-Prot for CEP135 Gene

  • Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.

Gene Wiki entry for CEP135 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP135 Gene

Genomics for CEP135 Gene

Regulatory Elements for CEP135 Gene

Enhancers for CEP135 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CEP135 on UCSC Golden Path with GeneCards custom track

Promoters for CEP135 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CEP135 Gene

Chromosome:
4
Start:
55,948,808 bp from pter
End:
56,033,363 bp from pter
Size:
84,556 bases
Orientation:
Plus strand

Genomic View for CEP135 Gene

Genes around CEP135 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP135 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP135 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP135 Gene

Proteins for CEP135 Gene

  • Protein details for CEP135 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q66GS9-CP135_HUMAN
    Recommended name:
    Centrosomal protein of 135 kDa
    Protein Accession:
    Q66GS9
    Secondary Accessions:
    • B2RMY0
    • O75130
    • Q58F25
    • Q9H8H7

    Protein attributes for CEP135 Gene

    Size:
    1140 amino acids
    Molecular mass:
    133490 Da
    Quaternary structure:
    • Interacts with DCTN2 (By similarity). Interacts with CEP250 (PubMed:18851962).
    SequenceCaution:
    • Sequence=AAH12003.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA31610.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP135 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP135 Gene

Post-translational modifications for CEP135 Gene

  • Ubiquitination at Lys 535
  • Modification sites at PhosphoSitePlus

Other Protein References for CEP135 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CEP135 Gene

Domains & Families for CEP135 Gene

Protein Domains for CEP135 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP135 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q66GS9

UniProtKB/Swiss-Prot:

CP135_HUMAN :
  • Belongs to the CEP135/TSGA10 family.
Family:
  • Belongs to the CEP135/TSGA10 family.
genes like me logo Genes that share domains with CEP135: view

No data available for Gene Families for CEP135 Gene

Function for CEP135 Gene

Molecular function for CEP135 Gene

UniProtKB/Swiss-Prot Function:
Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.

Gene Ontology (GO) - Molecular Function for CEP135 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20531387
GO:0008022 protein C-terminus binding IPI 18851962
genes like me logo Genes that share ontologies with CEP135: view

Phenotypes for CEP135 Gene

genes like me logo Genes that share phenotypes with CEP135: view

Human Phenotype Ontology for CEP135 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CEP135 Gene

miRTarBase miRNAs that target CEP135

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP135 Gene

Localization for CEP135 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP135 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP135 Gene COMPARTMENTS Subcellular localization image for CEP135 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CEP135 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IDA 17681131
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CEP135: view

Pathways & Interactions for CEP135 Gene

genes like me logo Genes that share pathways with CEP135: view

Gene Ontology (GO) - Biological Process for CEP135 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0007099 centriole replication IMP 17681131
GO:0010457 centriole-centriole cohesion IMP 18851962
GO:1902857 positive regulation of nonmotile primary cilium assembly IMP 26545777
genes like me logo Genes that share ontologies with CEP135: view

No data available for SIGNOR curated interactions for CEP135 Gene

Drugs & Compounds for CEP135 Gene

No Compound Related Data Available

Transcripts for CEP135 Gene

Unigene Clusters for CEP135 Gene

Centrosomal protein 135kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP135 Gene

No ASD Table

Relevant External Links for CEP135 Gene

GeneLoc Exon Structure for
CEP135
ECgene alternative splicing isoforms for
CEP135

Expression for CEP135 Gene

mRNA expression in normal human tissues for CEP135 Gene

Protein differential expression in normal tissues from HIPED for CEP135 Gene

This gene is overexpressed in Nasal epithelium (40.5) and Peripheral blood mononuclear cells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CEP135 Gene



NURSA nuclear receptor signaling pathways regulating expression of CEP135 Gene:

CEP135

SOURCE GeneReport for Unigene cluster for CEP135 Gene:

Hs.518767
genes like me logo Genes that share expression patterns with CEP135: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CEP135 Gene

Orthologs for CEP135 Gene

This gene was present in the common ancestor of animals.

Orthologs for CEP135 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CEP135 34
  • 90.61 (n)
  • 88.15 (a)
CEP135 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP135 34
  • 91.5 (n)
  • 90.49 (a)
CEP135 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep135 34
  • 81.37 (n)
  • 82.81 (a)
Cep135 16
Cep135 35
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEP135 34
  • 99.65 (n)
  • 99.47 (a)
CEP135 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep135 34
  • 81.81 (n)
  • 83.42 (a)
oppossum
(Monodelphis domestica)
Mammalia CEP135 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 67 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
chicken
(Gallus gallus)
Aves CEP135 34
  • 71.08 (n)
  • 67.44 (a)
CEP135 35
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP135 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep135 34
  • 65.43 (n)
  • 61.65 (a)
Str.10436 34
zebrafish
(Danio rerio)
Actinopterygii cep135 34
  • 57.81 (n)
  • 53.69 (a)
cep135 35
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010985 34
  • 39.01 (n)
  • 27.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cep135 34
  • 40.11 (n)
  • 28.67 (a)
Cep135 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for CEP135 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP135 Gene

ENSEMBL:
Gene Tree for CEP135 (if available)
TreeFam:
Gene Tree for CEP135 (if available)

Paralogs for CEP135 Gene

Paralogs for CEP135 Gene

(1) SIMAP similar genes for CEP135 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CEP135: view

Variants for CEP135 Gene

Sequence variations from dbSNP and Humsavar for CEP135 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs3214045 - 56,008,351(+) TGAAG(A/C/G)TAATG reference, missense
rs1141987 -- 56,011,968(+) TATTA(C/G/T)AAAAA reference, missense, stop-gained
rs1447048 -- 55,977,783(+) TCCAG(A/T)CTAAC intron-variant
rs2593082 -- 55,976,708(+) CATGA(A/T)AGAGG intron-variant
rs2951807 -- 56,018,664(-) TTCCC(C/T)GCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP135 Gene

Variant ID Type Subtype PubMed ID
esv2653807 CNV deletion 19546169
nsv1005845 CNV gain 25217958
nsv10496 CNV loss 18304495
nsv472758 CNV novel sequence insertion 20440878

Variation tolerance for CEP135 Gene

Residual Variation Intolerance Score: 36.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.40; 54.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP135 Gene

Human Gene Mutation Database (HGMD)
CEP135
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP135

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP135 Gene

Disorders for CEP135 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CEP135 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly 8, primary, autosomal recessive
  • primary autosomal recessive microcephaly type 8
autosomal recessive primary microcephaly
  • microcephalia vera
primary microcephaly
  • microcephaly, primary
microcephaly
  • microcephalus
primary autosomal recessive microcephalies and seckel syndrome spectrum disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP135_HUMAN
  • Microcephaly 8, primary, autosomal recessive (MCPH8) [MIM:614673]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269 PubMed:22521416}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CEP135

Genetic Association Database (GAD)
CEP135
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP135
genes like me logo Genes that share disorders with CEP135: view

No data available for Genatlas for CEP135 Gene

Publications for CEP135 Gene

  1. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4 65
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 65
  3. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. (PMID: 22521416) Hussain M.S. … Nurnberg P. (Am. J. Hum. Genet. 2012) 3 4 65
  4. A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization. (PMID: 18851962) Kim K. … Rhee K. (Exp. Cell Res. 2008) 3 4 65
  5. Plk4-induced centriole biogenesis in human cells. (PMID: 17681131) Kleylein-Sohn J. … Nigg E.A. (Dev. Cell 2007) 3 4 65

Products for CEP135 Gene

Sources for CEP135 Gene

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