Ofd1 - OFD1, centriole and centriolar satellite protein Gene

Also Known as ORF2; Cxorf5; DXGgc7e

Species: Mus musculus

Gene Type: protein coding

Gene ID: 237222

Summary

Enables alpha-tubulin binding activity and gamma-tubulin binding activity. Involved in several processes, including embryonic body morphogenesis; epithelial cilium movement involved in determination of left/right asymmetry; and negative regulation of Fibroblast Growth Factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation. Acts upstream of or within axoneme assembly. Located in centriolar satellite; centriole; and ciliary basal body. Is expressed in several structures, including alimentary system epithelium; brain; reproductive system; sensory organ; and skin. Used to study orofaciodigital syndrome I. Human ortholog(s) of this gene implicated in Joubert syndrome 10; Simpson-Golabi-Behmel syndrome type 2; orofaciodigital syndrome I; retinitis pigmentosa; and retinitis pigmentosa 23. Orthologous to human OFD1 (OFD1 centriole and centriolar satellite protein). [provided by Alliance of Genome Resources, Apr 2022]

Ofd1 Products (1)

mRNA	Protein	Name
NM_177429.3	NP_803178.2	centriole and centriolar satellite protein OFD1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-tubulin binding	IDA IDA: Inferred from direct assay	20230748	MGI
enables gamma-tubulin binding	IDA IDA: Inferred from direct assay	20230748	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within axoneme assembly	IMP IMP: Inferred from mutant phenotype	16311594	MGI
NOT involved in centriole replication	IMP IMP: Inferred from mutant phenotype	20230748	MGI
involved in cilium assembly	IDA IDA: Inferred from direct assay	20230748	MGI
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	16311594	MGI
involved in embryonic body morphogenesis	IMP IMP: Inferred from mutant phenotype	23806618	MGI
involved in epithelial cilium movement involved in determination of left/right asymmetry	IMP IMP: Inferred from mutant phenotype	16311594	MGI
NOT involved in mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	20230748	MGI
NOT involved in mitotic spindle assembly	IMP IMP: Inferred from mutant phenotype	20230748	MGI
involved in negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	IMP IMP: Inferred from mutant phenotype	23806618	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in centriolar satellite	IDA IDA: Inferred from direct assay	24089205	MGI
located in centriole	IDA IDA: Inferred from direct assay	20230748	MGI
located in ciliary basal body	IDA IDA: Inferred from direct assay	20230748	MGI
located in cilium	IDA IDA: Inferred from direct assay	20230748	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
centriole and centriolar satellite protein OFD1 oral-facial-digital syndrome 1 protein homolog	oral-facial-digital syndrome 1 gene homolog

Protein Preferred Names

Protein Names

centriole and centriolar satellite protein OFD1

oral-facial-digital syndrome 1 protein homolog

oral-facial-digital syndrome 1 gene homolog

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09756	OFD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Ofd1	NCBI	NCBI:8481