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    CEP135 centrosomal protein 135 [ Homo sapiens (human) ]

    Gene ID: 9662, updated on 5-May-2024

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    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

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    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    Preferred Names
    centrosomal protein of 135 kDa
    Names
    centrosomal protein 135kDa
    centrosomal protein 4
    centrosome protein cep135

    NCBI Reference Sequences (RefSeq)

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    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

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