U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CEP135 centrosomal protein 135 [ Homo sapiens (human) ]

Gene ID: 9662, updated on 17-Jun-2024

Summary

Go to the top of the page Help
Official Symbol
CEP135provided by HGNC
Official Full Name
centrosomal protein 135provided by HGNC
Primary source
HGNC:HGNC:29086
See related
Ensembl:ENSG00000174799 MIM:611423; AllianceGenome:HGNC:29086
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CEP4; MCPH8; KIAA0635
Summary
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]
Expression
Broad expression in lymph node (RPKM 5.5), endometrium (RPKM 4.6) and 24 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See CEP135 in Genome Data Viewer
Location:
4q12
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (55948945..56033361)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (59437137..59521552)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (56815111..56899527)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377663 Neighboring gene exocyst complex component 1 Neighboring gene RNA, U6 small nuclear 652, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:56786864-56788063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21575 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:56814688-56815652 Neighboring gene uncharacterized LOC124900705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:56915160-56915835 Neighboring gene VISTA enhancer hs1651 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:56952044-56952696 Neighboring gene capping protein inhibiting regulator of actin dynamics Neighboring gene RNA, 5S ribosomal pseudogene 161 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:57092588-57093151 Neighboring gene uncharacterized LOC101928760

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Mutation in CEP135 causing primary microcephaly and subcortical heterotopia. Bamborschke D, et al. Am J Med Genet A, 2020 Oct. PMID 32643282
  2. CEP135 isoform dysregulation promotes centrosome amplification in breast cancer cells. Ganapathi Sankaran D, et al. Mol Biol Cell, 2019 May 1. PMID 30811267, Free PMC Article
  3. The Human Centriolar Protein CEP135 Contains a Two-Stranded Coiled-Coil Domain Critical for Microtubule Binding. Kraatz S, et al. Structure, 2016 Aug 2. PMID 27477386
  4. A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family. Farooq M, et al. J Hum Genet, 2016 Mar. PMID 26657937
  5. A Short CEP135 Splice Isoform Controls Centriole Duplication. Dahl KD, et al. Curr Biol, 2015 Oct 5. PMID 26412126, Free PMC Article

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Centrosomal Protein CEP135 Regulates the Migration and Angiogenesis of Endothelial Cells in a Microtubule-Dependent Manner.
    Title: Centrosomal Protein CEP135 Regulates the Migration and Angiogenesis of Endothelial Cells in a Microtubule-Dependent Manner.
  2. Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells.
    Title: Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells.
  3. Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.
    Title: Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.
  4. Dysregulation of CEP135 isoforms promotes centriole overduplication and contributes to chromosome segregation errors in breast cancer cells.
    Title: CEP135 isoform dysregulation promotes centrosome amplification in breast cancer cells.
  5. The analysis of the distribution of genotypes in CEP135 rs4865047 and NPY2R rs1902491 detected significant differences only in the single nucleotide polymorphism rs4865047 genotype between the case and control group in comparison to the reference group. The co-dominant model showed that CEP135 rs4865047 was significantly associated with patients with rapidly progressive proliferative diabetic retinopathy
    Title: The Association of CEP135 rs4865047 and NPY2R rs1902491 Single Nucleotide Polymorphisms (SNPs) with Rapid Progression of Proliferative Diabetic Retinopathy in Patients with Type 1 Diabetes Mellitus.
  6. CEP135 segment 96-108 is a major microtubule-binding site.
    Title: The Human Centriolar Protein CEP135 Contains a Two-Stranded Coiled-Coil Domain Critical for Microtubule Binding.
  7. identified the second mutation in CEP135, confirming the role during embryonic brain development and in the pathophysiology of human primary microcephaly
    Title: A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.
  8. Authors suggest that the decrease in CEP135(mini) from centrosomes promotes centriole assembly. The repression of centriole duplication by a splice isoform of a protein that normally promotes it serves as a novel mechanism to limit centriole duplication.
    Title: A Short CEP135 Splice Isoform Controls Centriole Duplication.
  9. These findings support a model in which PKC-mediated phosphorylation of CEP4 at Ser(18) and Ser(80) causes its dissociation from Cdc42, thereby increasing its affinity for TEM4 and producing Rac activation, filopodium formation, and cell motility
    Title: Phosphorylation of Cdc42 effector protein-4 (CEP4) by protein kinase C promotes motility of human breast cells.
  10. Authors propose that CEP135 directly connects the central hub protein, hSAS-6, to the outer microtubules, and suggest that this interaction stabilizes the proper cartwheel structure for further CPAP-mediated centriole elongation.
    Title: Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Microcephaly 8, primary, autosomal recessive
MedGen: C3553414 OMIM: 614673 GeneReviews: Not available
not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables tubulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in centriole replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in centriole replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in centriole-centriole cohesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of establishment of protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
centrosomal protein of 135 kDa
Names
centrosomal protein 135kDa
centrosomal protein 4
centrosome protein cep135

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032806.1 RefSeqGene

    Range
    5138..89554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025009.5 → NP_079285.2  centrosomal protein of 135 kDa

    See identical proteins and their annotated locations for NP_079285.2

    Status: REVIEWED

    Source sequence(s)
    BC136535, BK005586, BU734129, CA438857
    Consensus CDS
    CCDS33986.1
    UniProtKB/Swiss-Prot
    B2RMY0, O75130, Q58F25, Q66GS9, Q9H8H7
    Related
    ENSP00000257287.3, ENST00000257287.5
    Conserved Domains (1) summary
    cl25732
    Location:199 → 1038
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    55948945..56033361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714055.4 → XP_006714118.1  centrosomal protein of 135 kDa isoform X1

    Conserved Domains (2) summary
    TIGR02168
    Location:199 → 1027
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam06717
    Location:648 → 852
    DUF1202; Protein of unknown function (DUF1202)

  2. XM_005265788.5 → XP_005265845.1  centrosomal protein of 135 kDa isoform X2

    Conserved Domains (2) summary
    COG1196
    Location:2 → 756
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam06717
    Location:302 → 506
    DUF1202; Protein of unknown function (DUF1202)

  3. XM_011534412.2 → XP_011532714.1  centrosomal protein of 135 kDa isoform X3

    Conserved Domains (1) summary
    pfam06717
    Location:149 → 353
    DUF1202; Protein of unknown function (DUF1202)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    59437137..59521552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351304.1 → XP_054207279.1  centrosomal protein of 135 kDa isoform X1

  2. XM_054351305.1 → XP_054207280.1  centrosomal protein of 135 kDa isoform X2

  3. XM_054351306.1 → XP_054207281.1  centrosomal protein of 135 kDa isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014645.1: Suppressed sequence

    Description
    NM_014645.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q66GS9.2 GenPept UniProtKB/Swiss-Prot:Q66GS9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous