CEP135 Gene
protein-coding GIFtS: 52
GCID: GC04P056815
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centrosomal protein 135kDa(Previous names: KIAA0635, centrosomal protein 4 )
(Previous symbols: KIAA0635, CEP4)
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Aliases
for CEP135 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Centrosomal Protein 135kDa1 2 | | MCPH82 | | Centrosomal Protein 41 2 3 | | Centrosomal Protein Of 135 KDa2 | | CEP41 2 3 | | Centrosome Protein Cep1352 | | KIAA06351 2 3 | | Cep1353 | | FLJ136211 | | |
Export aliases for CEP135 gene to outside databasesPrevious GC identifers: GC04P056657 GC04P056509 GC04P052768 |
Summaries
for CEP135 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CEP135:
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and isalso required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomalrecessive primary microcephaly-8. (provided by RefSeq, Jun 2012)
UniProtKB/Swiss-Prot: CP135_HUMAN, Q66GS9Function: Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriolebiogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein forCEP250 at the centriole
Gene Wiki entry for CEP135
|
Genomic Views
for CEP135 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_022853.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CEP135 gene promoter:
POU2F2 (Oct-2.1) Oct-B1 oct-B3 oct-B2 Pax-5 POU2F2 POU2F2C POU2F1 POU2F1a POU2F2B
Other transcription factors
Search SABiosciences Chromatin IP Primers for CEP135
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP135 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4q12 Ensembl cytogenetic band: 4q12 HGNC cytogenetic band: 4q12CEP135 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P056815: view genomic region
(about GC identifiers)
Start:
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56,815,037 bp from pter |
End:
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56,899,527 bp from pter |
Size:
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84,491 bases |
Orientation:
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plus strand |
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Proteins
for CEP135 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CP135_HUMAN, Q66GS9 (See
protein sequence)Recommended Name: Centrosomal protein of 135 kDa Size: 1140 amino acids; 133490 Da
Subunit: Interacts with DCTN2 (By similarity). Interacts with CEP250
Subcellular location: Cytoplasm, cytoskeleton, centrosome, centriole. Note=During centriole biogenesis, it isconcentrated within the proximal lumen of both parental centrioles and procentrioles
Sequence caution: Sequence=AAH12003.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-Asequence; Sequence=BAA31610.2; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: B2RMY0 O75130 Q58F25 Q9H8H7Alternative splicing: 2 isoforms: Q66GS9-1 Q66GS9-2 Explore the universe of human proteins at neXtProt for CEP135: NX_Q66GS9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q66GS9
CEP135 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_079285.2
ENSEMBL proteins: ENSP00000412799 ENSP00000257287 Reactome Protein details: Q66GS9
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
CEP135 for ontologies About GeneDecksing
CEP135 Antibody Products:
Assay Products for CEP135: |
Protein
Domains /
Families
for CEP135 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CEP135 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q66GS9ProtoNet protein and cluster: Q66GS9 UniProtKB/Swiss-Prot: CP135_HUMAN, Q66GS9Similarity: Belongs to the CEP135/TSGA10 family |
Function
for CEP135 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CP135_HUMAN, Q66GS9Function: Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriolebiogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein forCEP250 at the centriole
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CEP135 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CEP135
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for CEP135 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP135 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP135 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
CEP135 for ontologies About GeneDecksing
|
Pathways & Interactions
for CEP135 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Recruitment of mitotic centrosome proteins and complexes | | | 2 | Cell Cycle | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/8 
Reactome Pathways for CEP135 (see all 8)
CEP135 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEP135
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/60 Interacting proteins for CEP135 (Q66GS91, 2, 3 ENSP000002572874) via UniProtKB, MINT, STRING, and/or I2D (see all 60)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
CEP135 for ontologies About GeneDecksing
|
Drugs & Compounds
for CEP135 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CEP135
Search CenterWatch for drugs/clinical trials and news about CEP135 / CP135
|
Transcripts
for CEP135 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CEP135 gene (2 alternative transcripts): NM_025009.4 NM_014645.1 Unigene Cluster for CEP135: Centrosomal protein 135kDa Hs.518767 [show with all ESTs]Unigene Representative Sequence: NM_0250095 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000422247(uc003hbh.1) ENST00000506809 ENST00000257287(uc003hbi.3)
ENST00000515081(uc010igz.1) ENST00000506202(uc003hbj.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CEP135 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CEP135
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CEP135 (NM_025009) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CEP135 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP135 |
Additional cDNA sequence: BC012003.1 BC136535.1 BC136536.1 5 DOTS entries: DT.434419 DT.95148928 DT.91656190 DT.121257406 DT.91693762 24/57 AceView cDNA sequences (see all 57): AA829975 AK023683 AA101213 CA438857 AI868701 BG258901 AU279393 BU734129 AA910186 BM709643 BX282572 AU139599 BC012003 AL698759 BF448516 AA135479 BE042511 AI401475 AB014535 AW503948 BX476118 NM_025009 AA082100 BE349307
GeneLoc Exon Structure
|
Expression
for CEP135 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CEP135 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATATTGTTTT
About this image
See CEP135 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CEP135
SOURCE GeneReport for Unigene cluster: Hs.518767
SABiosciences Custom PCR Arrays for CEP135
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CEP135
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CEP135 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CEP135 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEP135 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP135 |
Orthologs
for CEP135 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CEP135 gene from 6/18 species (see all 18) About this table
ENSEMBL Gene Tree for CEP135 (if available)
TreeFam Gene Tree for CEP135 (if available) |
Paralogs
for CEP135 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CEP135 gene
- TSGA102
1 SIMAP similar gene for CEP135 using alignment to 1 protein entry: CP135_HUMAN:TSGA10
CEP135 for paralogs About GeneDecksing
|
Genomic Variants
for CEP135 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CEP135
1 CNV: 98715
Human Gene Mutation Database (HGMD): CEP135
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEP135 |
|
Disorders
/ Diseases
for CEP135 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CEP135 for disorders About GeneDecksing
OMIM gene information: 611423
OMIM disorders: --
UniProtKB/Swiss-Prot: CP135_HUMAN, Q66GS9
Defects in CEP135 are the cause of microcephaly, primary, type 8 (MCPH8) [MIM:614673]. MCPH8 is a diseasedefined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedlyreduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral patternis relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentallyretarded. Primary microcephaly is further defined by the absence of other syndromic features or significantneurological deficits due to degenerative brain disorder
2  diseases for CEP135: About MalaCardsmicrocephaly diabetic macular edema
Export disorders for CEP135 gene to outside databases
|
Publications
for CEP135 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CEP135 gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with CEP135) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)1, 2, 3 Andersen J.S....Mann M. (2003)
- 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. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (1998)
- A truncating mutation of CEP135 causes primary microce phaly and disturbed centrosomal function. (PubMed id 22521416)1, 2 Hussain M.S....Nurnberg P. (2012)
- A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization. (PubMed id 18851962)1, 2 Kim K.... Rhee K. (2008)
- Plk4-induced centriole biogenesis in human cells. (PubMed id 17681131)1, 2 Kleylein-Sohn J.... Nigg E.A. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
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External Searches for CEP135 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CEP135 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CEP135 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing CEP135 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CEP135 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CEP135 gene:
Search GeneIP for patents involving CEP135
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CEP135 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CEP135 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CEP135 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CEP135 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CEP135 | | OriGene 3'-UTR Clone for CEP135 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CEP135 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CEP135 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CEP135 | | OriGene Custom Protein Services for CEP135 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CEP135 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEP135 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP135 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CEP135 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEP135 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CEP135 |
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 | | | CEP135 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP135 |
|  |  |  | | | | Search ThermoFisher Antibodies for CEP135 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP135 |
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