Cep120 - centrosomal protein 120 Gene

Also Known as Ccdc100; A230075C01

Species: Mus musculus

Gene Type: protein coding

Gene ID: 225523

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]

Cep120 Products (1)

mRNA	Protein	Name
NM_178686.4	NP_848801.2	centrosomal protein of 120 kDa

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17920017	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within astral microtubule organization	IDA IDA: Inferred from direct assay	17920017	MGI
acts upstream of or within cell population proliferation	IMP IMP: Inferred from mutant phenotype	17920017	MGI
involved in centrosome cycle	IMP IMP: Inferred from mutant phenotype	25251415	MGI
acts upstream of or within cerebral cortex development	IMP IMP: Inferred from mutant phenotype	17920017	MGI
acts upstream of or within interkinetic nuclear migration	IMP IMP: Inferred from mutant phenotype	17920017	MGI
acts upstream of or within microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	17920017	MGI
acts upstream of or within neurogenesis	IMP IMP: Inferred from mutant phenotype	17875675	MGI
involved in positive regulation of centrosome duplication	IMP IMP: Inferred from mutant phenotype	25251415	MGI
involved in positive regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	25251415	MGI
acts upstream of or within regulation of microtubule-based process	IMP IMP: Inferred from mutant phenotype	17920017	MGI
acts upstream of or within regulation of protein localization	IMP IMP: Inferred from mutant phenotype	17920017	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in centriole	IDA IDA: Inferred from direct assay	25251415	MGI
located in centrosome	IDA IDA: Inferred from direct assay	17920017	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112500	Spindlactone B		/	Unkown
HY-RS02498	CEP120 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Cep120	NCBI	NCBI:153241