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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

Gene LinkOut

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

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