Mus musculus Protein: Ofd1
Summary
InnateDB Protein IDBP-185284.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ofd1
Protein Name oral-facial-digital syndrome 1 gene homolog (human)
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000041744
InnateDB Gene IDBG-185282 (Ofd1)
Protein Structure
UniProt Annotation
Function Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation. {ECO:0000269PubMed:18084282, ECO:0000269PubMed:20230748}.
Subcellular Localization Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body. Nucleus {ECO:0000250}. Note=Localizes to centriole distal ends and to centriolar satellites.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Predicted by orthology
Total 12 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0043014 alpha-tubulin binding
GO:0043015 gamma-tubulin binding
Biological Process
GO:0010172 embryonic body morphogenesis
GO:0035082 axoneme assembly
GO:0060271 cilium morphogenesis
GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry
GO:2000314 negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation
Cellular Component
GO:0005634 nucleus
GO:0005813 centrosome
GO:0005814 centriole
GO:0005929 cilium
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0034451 centriolar satellite
GO:0036064 ciliary basal body
Protein Structure and Domains
PDB ID MGI:1350328
InterPro IPR006594 LisH dimerisation motif
PFAM
PRINTS
PIRSF
SMART SM00667
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q80Z25
PhosphoSite PhosphoSite-Q80Z25
TrEMBL Q99JH6
UniProt Splice Variant
Entrez Gene 237222
UniGene Mm.247480
RefSeq NP_803178
MGI ID
MGI Symbol Ofd1
OMIM
CCDS CCDS53248
HPRD
IMGT
EMBL AJ278702 AJ438159 AK141310 AL671905 AL672174 BC119070 BC120487 CH466571
GenPept AAI19071 AAI20488 BAE24645 CAC34795 CAD27225 EDL40732