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Aliases for CEP135 Gene

Aliases for CEP135 Gene

  • Centrosomal Protein 135kDa 2 3
  • KIAA0635 2 3 4 6
  • Centrosomal Protein 4 2 3 4
  • MCPH8 3 6
  • CEP4 3 4
  • Centrosomal Protein Of 135 KDa 3
  • Centrosome Protein Cep135 3
  • Cep135 4

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 135kDa) is a Protein Coding gene. Diseases associated with CEP135 include microcephaly 8, primary, autosomal recessive and primary autosomal recessive microcephalies and seckel syndrome spectrum disorders. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include 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. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CEP135 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    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

Proteomics data for CEP135 Gene at MOPED

Post-translational modifications for CEP135 Gene

  • Ubiquitination at Lys535
  • Modification sites at PhosphoSitePlus

Other Protein References for CEP135 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CEP135 Gene

Domains 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 :
  • Q66GS9
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. 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:0008017 microtubule binding --
GO:0008022 protein C-terminus binding IPI 18851962
genes like me logo Genes that share ontologies with CEP135: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP135

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 4
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 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:0000278 mitotic cell cycle TAS --
GO:0006996 organelle organization TAS --
GO:0007099 centriole replication IMP 17681131
GO:0010457 centriole-centriole cohesion IMP 18851962
genes like me logo Genes that share ontologies with CEP135: view

Transcripts for CEP135 Gene

Unigene Clusters for CEP135 Gene

Centrosomal protein 135kDa:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP135

Primer 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 for CEP135 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEP135 Gene

SOURCE GeneReport for Unigene cluster for CEP135 Gene Hs.518767

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

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Expression partners 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 35
  • 90.61 (n)
  • 88.15 (a)
CEP135 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP135 35
  • 91.5 (n)
  • 90.49 (a)
CEP135 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep135 35
  • 81.37 (n)
  • 82.81 (a)
Cep135 16
Cep135 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEP135 35
  • 99.65 (n)
  • 99.47 (a)
CEP135 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep135 35
  • 81.81 (n)
  • 83.42 (a)
oppossum
(Monodelphis domestica)
Mammalia CEP135 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 67 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
chicken
(Gallus gallus)
Aves CEP135 35
  • 71.08 (n)
  • 67.44 (a)
CEP135 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP135 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep135 35
  • 65.43 (n)
  • 61.65 (a)
Str.10436 35
zebrafish
(Danio rerio)
Actinopterygii cep135 35
  • 57.81 (n)
  • 53.69 (a)
cep135 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010985 35
  • 39.01 (n)
  • 27.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cep135 35
  • 40.11 (n)
  • 28.67 (a)
Cep135 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for CEP135:
  • 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

Selected 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 MAF
rs878956 -- 55,947,949(+) cacaa(A/G)attta upstream-variant-2KB
rs1141987 -- 56,011,968(+) TATTA(G/T)AAAAA reference, stop-gained
rs1447048 -- 55,977,783(+) TCCAG(A/T)CTAAC intron-variant
rs1550876 -- 55,963,824(+) AATTC(A/C)CCCCA intron-variant, upstream-variant-2KB
rs1550877 -- 55,963,989(+) ACACA(G/T)TGTTA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv10496 CNV Loss 18304495
esv2653807 CNV Deletion 19546169

Relevant External Links for CEP135 Gene

HapMap Linkage Disequilibrium report
CEP135
Human Gene Mutation Database (HGMD)
CEP135

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

Disorders for CEP135 Gene

(1) OMIM Diseases for CEP135 Gene (611423)

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.

(1) University of Copenhagen DISEASES for CEP135 Gene

Relevant External Links for CEP135

Genetic Association Database (GAD)
CEP135
genes like me logo Genes that share disorders with CEP135: view

No data available for Novoseek inferred disease relationships and Genatlas for CEP135 Gene

Publications for CEP135 Gene

  1. 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
  2. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Plk4-induced centriole biogenesis in human cells. (PMID: 17681131) Kleylein-Sohn J. … Nigg E.A. (Dev. Cell 2007) 3 4
  5. 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

Products for CEP135 Gene

Sources for CEP135 Gene

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