Ofd1 OFD1, centriole and centriolar satellite protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ofd1provided by MGI
Official Full Name: OFD1, centriole and centriolar satellite proteinprovided by MGI
Primary source: MGI:MGI:1350328
See related: Ensembl:ENSMUSG00000040586 AllianceGenome:MGI:1350328
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: ORF2; Cxorf5; DXGgc7e
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 brain; forelimb; limb bud; reproductive system; and sensory organ. 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, Dec 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 2.6), CNS E14 (RPKM 2.5) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F5; X 77.28 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (165171503..165223704, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (166386573..166440704, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment.
Title: Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
removal of OFD1 by autophagy at centriolar satellites represents a general mechanism to promote ciliogenesis in mammalian cells
Title: Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.
the present study identifies Ofd1 as a developmental disease gene that is critical for forebrain development and ciliogenesis in embryonic life, and indicates that Ofd1 functions after docking and before elaboration of the axoneme in vivo.
Title: Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development.
The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.
Title: The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.
Ofd1 plays a role in regulating digit number and identity during limb and skeletal patterning.
Title: Ofd1 is required in limb bud patterning and endochondral bone development.
Kidney specific inactivation of Ofd1 leads to renal cystic disease.
Title: Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.
Odontoblasts in vitro express OFD1. This hypothesis is enhanced by the huge defects observed on molars from Ofd1 knockout mice, showing undifferentiated dentin-forming cells.
Title: Primary cilia of odontoblasts: possible role in molar morphogenesis.
the mouse Ofd1 gene is subject to X-inactivation, in contrast to the human gene; a role for Ofd1 in the pathogenesis of the spontaneous mouse mutant Xpl was excluded; evolutionarily conserved domains in the protein were identified.
Title: Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.
OFD1 plays role in the cilia formation in the embryonic node and patterning of the neural tube
Title: Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

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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 (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables gamma-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in centriole replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in embryonic body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cilium movement involved in determination of left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	ISO Inferred from Sequence Orthology more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: centriole and centriolar satellite protein OFD1

Names: oral-facial-digital syndrome 1 gene homolog; oral-facial-digital syndrome 1 protein homolog

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_001423447.1 → NP_001410376.1 centriole and centriolar satellite protein OFD1 isoform 2

Status: VALIDATED

Source sequence(s)

AL671905, AL672174

UniProtKB/TrEMBL

A2AEG2
NM_177429.4 → NP_803178.3 centriole and centriolar satellite protein OFD1 isoform 1

Status: VALIDATED

Source sequence(s)

AL671905, AL672174

Consensus CDS

CCDS53248.1

UniProtKB/Swiss-Prot

Q80Z25

UniProtKB/TrEMBL

A2AEG2

Related

ENSMUSP00000041744.10, ENSMUST00000049501.10

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_000086.8 Reference GRCm39 C57BL/6J

Range

165171503..165223704 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006528839.5 → XP_006528902.1 centriole and centriolar satellite protein OFD1 isoform X1

UniProtKB/TrEMBL

A2AEG2

Conserved Domains (3) summary

COG1196
Location:277 → 558

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam10459
Location:182 → 359

Peptidase_S46; Peptidase S46

pfam16045
Location:76 → 102

LisH_2
XM_036161947.1 → XP_036017840.1 centriole and centriolar satellite protein OFD1 isoform X3

Conserved Domains (1) summary

COG1196
Location:2 → 283

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_036161946.1 → XP_036017839.1 centriole and centriolar satellite protein OFD1 isoform X2

Conserved Domains (1) summary

COG1196
Location:2 → 283

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]