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    CEP120 centrosomal protein 120 [ Homo sapiens (human) ]

    Gene ID: 153241, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CEP120provided by HGNC
    Official Full Name
    centrosomal protein 120provided by HGNC
    Primary source
    HGNC:HGNC:26690
    See related
    Ensembl:ENSG00000168944 MIM:613446; AllianceGenome:HGNC:26690
    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
    JBTS31; SRTD13; CCDC100
    Summary
    This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in testis (RPKM 11.0), ovary (RPKM 9.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP120 in Genome Data Viewer
    Location:
    5q23.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (123344892..123423842, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (123861091..123940041, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (122680586..122759536, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PRDM6 antisense RNA 1 Neighboring gene PR/SET domain 6 Neighboring gene NANOG hESC enhancer GRCh37_chr5:122486848-122487353 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:122493602-122493821 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:122498660-122499160 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:122551508-122552100 Neighboring gene SUMO1 pseudogene 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:122758363-122759308 Neighboring gene keratin 8 pseudogene 33 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16274 Neighboring gene high mobility group box 3 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23005 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:122861667-122861854 Neighboring gene casein kinase 1 gamma 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23006

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells. Betleja E, et al. Elife, 2018 May 9. PMID 29741480, Free PMC Article
    2. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Roosing S, et al. J Med Genet, 2016 Sep. PMID 27208211, Free PMC Article
    3. The ups and downs of neural progenitors: Cep120 and TACCs control interkinetic nuclear migration. Guerrier S, et al. Neuron, 2007 Oct 4. PMID 17920006
    4. CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum. Chang CH, et al. Genes Dev, 2021 Nov 1. PMID 34711653, Free PMC Article
    5. Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. Barroso-Gil M, et al. Mol Genet Genomic Med, 2021 Dec. PMID 33486889, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
      Title: RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
    2. CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
      Title: CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
    3. Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
      Title: Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
    4. Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.
      Title: Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.
    5. Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.
      Title: Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.
    6. CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
      Title: CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
    7. the ciliopathy-associated centriolar protein CEP120 contains three C2 domains.
      Title: Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.
    8. These results indicate that Cep120 helps to maintain centrosome homeostasis by inhibiting untimely maturation of the daughter centriole, and defines a potentially new molecular defect underlying the pathogenesis of ciliopathies such as Jeune Asphyxiating Thoracic Dystrophy and Joubert syndrome.
      Title: A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells.
    9. The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses.
      Title: Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
    10. We establish a novel locus for Jeune asphyxiating thoracic dystrophy on 5q23.2 by linkage analysis and demonstrate that a mutation in CEP120 within this locus is the most likely cause of the disease.
      Title: A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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
    Joubert syndrome 31
    MedGen: C4540355 OMIM: 617761 GeneReviews: Joubert Syndrome
    		Compare labs
    Short-rib thoracic dysplasia 13 with or without polydactyly
    MedGen: C4225378 OMIM: 616300 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ36090, FLJ38327, DKFZp686I06246

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in astral microtubule organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centrosome cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centrosome cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in interkinetic nuclear migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neurogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of centriole elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of centriole elongation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of centrosome duplication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of establishment of protein localization 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein of 120 kDa
    Names
    centrosomal protein 120kDa
    coiled-coil domain-containing protein 100

    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_042125.1 RefSeqGene

      Range
      5190..83701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166226.2 → NP_001159698.1  centrosomal protein of 120 kDa isoform 2

      See identical proteins and their annotated locations for NP_001159698.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC010369, AC106792, AK095646, AK296999, AL833929, CB854619
      Consensus CDS
      CCDS54890.1
      UniProtKB/TrEMBL
      A0A6Q8PGD1
      Related
      ENSP00000307419.6, ENST00000306481.11
      Conserved Domains (5) summary
      cd00030
      Location:504 → 537
      C2; C2 domain
      pfam08647
      Location:648 → 765
      BRE1; BRE1 E3 ubiquitin ligase
      pfam12416
      Location:92 → 314
      DUF3668; Cep120 protein
      pfam17045
      Location:636 → 891
      CEP63; Centrosomal protein of 63 kDa
      cl12013
      Location:713 → 891
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. NM_001375405.1 → NP_001362334.1  centrosomal protein of 120 kDa isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variant 1, encodes isoform 1.
      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      Consensus CDS
      CCDS4134.2
      UniProtKB/Swiss-Prot
      Q6AI52, Q6AW89, Q8IWB5, Q8N960, Q8N9Y0, Q8NDE8
      UniProtKB/TrEMBL
      A0A6Q8PGD1
      Related
      ENSP00000303058.6, ENST00000306467.10
      Conserved Domains (3) summary
      COG1196
      Location:640 → 917
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:118 → 340
      DUF3668; Cep120 protein
      cl14603
      Location:9 → 114
      C2; C2 domain

    3. NM_001375406.1 → NP_001362335.1  centrosomal protein of 120 kDa isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      Consensus CDS
      CCDS93770.1
      UniProtKB/TrEMBL
      A0A6Q8PGD1, A0A6Q8PH95
      Related
      ENSP00000502634.1, ENST00000675330.1
      Conserved Domains (3) summary
      COG1196
      Location:595 → 872
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:118 → 340
      DUF3668; Cep120 protein
      cl14603
      Location:9 → 114
      C2; C2 domain

    4. NM_001375407.1 → NP_001362336.1  centrosomal protein of 120 kDa isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      Consensus CDS
      CCDS93771.1
      UniProtKB/TrEMBL
      A0A6Q8PF83, D6REX9
      Related
      ENSP00000501697.1, ENST00000674684.1
      Conserved Domains (3) summary
      COG1196
      Location:640 → 913
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:118 → 340
      DUF3668; Cep120 protein
      cl14603
      Location:9 → 114
      C2; C2 domain

    5. NM_001375408.1 → NP_001362337.1  centrosomal protein of 120 kDa isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 7, encodes isoform 5.
      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      UniProtKB/TrEMBL
      A0A6Q8PGD1
      Conserved Domains (2) summary
      COG1196
      Location:461 → 726
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:1 → 149
      DUF3668; Cep120 protein

    6. NM_001375409.1 → NP_001362338.1  centrosomal protein of 120 kDa isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 6, encodes isoform 5.
      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      UniProtKB/TrEMBL
      A0A6Q8PGD1
      Conserved Domains (2) summary
      COG1196
      Location:461 → 726
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:1 → 149
      DUF3668; Cep120 protein

    7. NM_153223.4 → NP_694955.2  centrosomal protein of 120 kDa isoform 1

      See identical proteins and their annotated locations for NP_694955.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AC010369, AC106792, AK093409, AK296999, CB854619, DA508726
      Consensus CDS
      CCDS4134.2
      UniProtKB/Swiss-Prot
      Q6AI52, Q6AW89, Q8IWB5, Q8N960, Q8N9Y0, Q8NDE8
      UniProtKB/TrEMBL
      A0A6Q8PGD1
      Related
      ENSP00000327504.5, ENST00000328236.10
      Conserved Domains (3) summary
      COG1196
      Location:640 → 917
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:118 → 340
      DUF3668; Cep120 protein
      cl14603
      Location:9 → 114
      C2; C2 domain

    RNA

    1. NR_164685.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      Related
      ENST00000674667.1

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      123344892..123423842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416803.1 → XP_047272759.1  centrosomal protein of 120 kDa isoform X2

    2. XM_011543185.3 → XP_011541487.1  centrosomal protein of 120 kDa isoform X1

      See identical proteins and their annotated locations for XP_011541487.1

      UniProtKB/TrEMBL
      A0A6Q8PGD1
      Related
      ENSP00000421620.3, ENST00000508442.7
      Conserved Domains (5) summary
      cd00030
      Location:504 → 537
      C2; C2 domain
      pfam08647
      Location:648 → 765
      BRE1; BRE1 E3 ubiquitin ligase
      pfam12416
      Location:92 → 314
      DUF3668; Cep120 protein
      pfam17045
      Location:636 → 891
      CEP63; Centrosomal protein of 63 kDa
      cl12013
      Location:713 → 891
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. XM_017009085.2 → XP_016864574.1  centrosomal protein of 120 kDa isoform X3

      UniProtKB/Swiss-Prot
      Q8N960
      Conserved Domains (3) summary
      cd00030
      Location:41 → 74
      C2; C2 domain
      pfam17045
      Location:175 → 428
      CEP63; Centrosomal protein of 63 kDa
      cl19219
      Location:281 → 347
      DUF342; Protein of unknown function (DUF342)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      123861091..123940041 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351770.1 → XP_054207745.1  centrosomal protein of 120 kDa isoform X2

    2. XM_054351769.1 → XP_054207744.1  centrosomal protein of 120 kDa isoform X1

    3. XM_054351771.1 → XP_054207746.1  centrosomal protein of 120 kDa isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N960.2 GenPept UniProtKB/Swiss-Prot:Q8N960

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