InnateDB Protein
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IDBP-185284.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Ofd1
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Protein Name
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oral-facial-digital syndrome 1 gene homolog (human)
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Synonyms
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000041744
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InnateDB Gene
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IDBG-185282 (Ofd1)
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Protein Structure
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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}.
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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.
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Disease Associations |
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Tissue Specificity |
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Comments |
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Number of Interactions
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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.
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Predicted by orthology |
Total |
12 [view]
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Molecular Function |
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Biological Process |
GO:0010172
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embryonic body morphogenesis
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GO:0035082
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axoneme assembly
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GO:0060271
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cilium morphogenesis
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GO:0060287
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epithelial cilium movement involved in determination of left/right asymmetry
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GO:2000314
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negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation
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Cellular Component |
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PDB ID |
MGI:1350328
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InterPro |
IPR006594
LisH dimerisation motif
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
SM00667
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TIGRFAMs |
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Modification |
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SwissProt |
Q80Z25
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PhosphoSite |
PhosphoSite-Q80Z25
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TrEMBL |
Q99JH6
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UniProt Splice Variant |
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Entrez Gene |
237222
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UniGene |
Mm.247480
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RefSeq |
NP_803178
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MGI ID |
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MGI Symbol |
Ofd1
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OMIM |
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CCDS |
CCDS53248
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HPRD |
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IMGT |
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EMBL |
AJ278702
AJ438159
AK141310
AL671905
AL672174
BC119070
BC120487
CH466571
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GenPept |
AAI19071
AAI20488
BAE24645
CAC34795
CAD27225
EDL40732
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