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

Gene ID: 225523, updated on 9-May-2024

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
Enables protein C-terminus binding activity. 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 nervous system 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, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 17.4), cerebellum adult (RPKM 11.8) and 27 other tissues See more
Orthologs
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Genomic context

See Cep120 in Genome Data Viewer
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_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41726 Neighboring gene PR domain containing 6 Neighboring gene STARR-seq mESC enhancer starr_44624 Neighboring gene predicted gene, 19466 Neighboring gene STARR-seq mESC enhancer starr_44626 Neighboring gene STARR-positive B cell enhancer ABC_E966 Neighboring gene STARR-positive B cell enhancer ABC_E8978 Neighboring gene STARR-seq mESC enhancer starr_44627 Neighboring gene STARR-positive B cell enhancer ABC_E9449 Neighboring gene STARR-positive B cell enhancer mm9_chr18:54037188-54037489 Neighboring gene predicted gene, 41728 Neighboring gene casein kinase 1, gamma 3 Neighboring gene STARR-positive B cell enhancer ABC_E5659 Neighboring gene STARR-positive B cell enhancer ABC_E1516

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (4)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 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
 
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
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 centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

  1. NM_178686.4NP_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:533566
    C2; C2 domain
    pfam08287
    Location:711791
    DASH_Spc19; Spc19
    pfam12416
    Location:118340
    DUF3668; Cep120 protein
    pfam17045
    Location:667920
    CEP63; Centrosomal protein of 63 kDa
    cl14603
    Location:9114
    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

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    53814795..53877825 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (3) summary
    pfam17380
    Location:646946
    DUF5401; Family of unknown function (DUF5401)
    pfam12416
    Location:118340
    DUF3668; Cep120 protein
    cl14603
    Location:9114
    C2; C2 domain
  2. XM_011246906.3XP_011245208.1  centrosomal protein of 120 kDa isoform X2

    Conserved Domains (3) summary
    COG1196
    Location:655866
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam12416
    Location:118340
    DUF3668; Cep120 protein
    cl14603
    Location:9114
    C2; C2 domain