Cep120 centrosomal protein 120 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cep120provided by MGI
Official Full Name: centrosomal protein 120provided by MGI
Primary source: MGI:MGI:2147298
See related: Ensembl:ENSMUSG00000048799 AllianceGenome:MGI:2147298
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ccdc100; A230075C01
Summary: Involved in centrosome cycle; positive regulation of centrosome duplication; and positive regulation of cilium assembly. Acts upstream of or within several processes, including astral microtubule organization; nervous system development; and regulation of microtubule-based process. Located in centriole and centrosome. Is expressed in central nervous system; peripheral nervous system ganglion; and sensory organ. Human ortholog(s) of this gene implicated in Joubert syndrome 31 and short-rib thoracic dysplasia 13 with or without polydactyly. Orthologous to human CEP120 (centrosomal protein 120). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis adult (RPKM 17.4), cerebellum adult (RPKM 11.8) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 D1; 18 29.07 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (53814795..53877825, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (53681723..53745636, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cep120 is essential for kidney stromal progenitor cell growth and differentiation.
Title: Cep120 is essential for kidney stromal progenitor cell growth and differentiation.
Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.
Title: Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.
The loss of Talpid3-binding centrosomal protein Cep120 results in failed centriole duplication and consequently ciliogenesis, which together underlie Cep120 mutant cerebellar hypoplasia.
Title: Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors.
Cep120 is required for centriole assembly and that the observed defect in neuronal migration might derive from a defect in this process.
Title: Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH137085 (e-PCR)
- UniSTS:219173

AU016693 (e-PCR)
- UniSTS:160744

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within astral microtubule organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interkinetic nuclear migration	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within interkinetic nuclear migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of centriole elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of centriole elongation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of centriole elongation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of centrosome duplication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of establishment of protein localization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of establishment of protein localization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of microtubule-based process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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 centrosome	ISO Inferred from Sequence Orthology more info
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: 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.

mRNA and Protein(s)

NM_178686.4 → NP_848801.2 centrosomal protein of 120 kDa

See identical proteins and their annotated locations for NP_848801.2

Status: VALIDATED

Source sequence(s)

AK038916, BC053439

Consensus CDS

CCDS37822.1

UniProtKB/Swiss-Prot

Q7TSG1, Q80Y93, Q80ZQ2, Q8BG01, Q8C580, Q8C8B6, Q8CAF2

Related

ENSMUSP00000062433.7, ENSMUST00000049811.8

Conserved Domains (5) summary

cd00030
Location:533 → 566

C2; C2 domain

pfam08287
Location:711 → 791

DASH_Spc19; Spc19

pfam12416
Location:118 → 340

DUF3668; Cep120 protein

pfam17045
Location:667 → 920

CEP63; Centrosomal protein of 63 kDa

cl14603
Location:9 → 114

C2; C2 domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

53814795..53877825 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161118.1 → XP_036017011.1 centrosomal protein of 120 kDa isoform X1

Conserved Domains (3) summary

pfam17380
Location:646 → 946

DUF5401; Family of unknown function (DUF5401)

pfam12416
Location:118 → 340

DUF3668; Cep120 protein

cl14603
Location:9 → 114

C2; C2 domain
XM_011246906.3 → XP_011245208.1 centrosomal protein of 120 kDa isoform X2

Conserved Domains (3) summary

COG1196
Location:655 → 866

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