InnateDB Protein
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IDBP-45105.6
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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
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Synonyms
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71-7A; CXorf5; JBTS10; RP23; SGBS2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000344314
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InnateDB Gene
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IDBG-45101 (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 (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Localizes to centriole distal ends and to centriolar satellites. {ECO:0000250}.
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Disease Associations |
Orofaciodigital syndrome 1 (OFD1) [MIM:311200]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy-Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys. {ECO:0000269PubMed:11179005, ECO:0000269PubMed:11950863, ECO:0000269PubMed:12595504, ECO:0000269PubMed:16397067, ECO:0000269PubMed:23033313}. Note=The disease is caused by mutations affecting the gene represented in this entry.Simpson-Golabi-Behmel syndrome 2 (SGBS2) [MIM:300209]: A severe variant of Simpson-Golabi-Behmel syndrome, a condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. Note=The disease may be caused by mutations affecting the gene represented in this entry.Joubert syndrome 10 (JBTS10) [MIM:300804]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269PubMed:19800048}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa 23 (RP23) [MIM:300424]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:22619378}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb. {ECO:0000269PubMed:12595504}.
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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 32 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
32
[view]
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Protein-Protein |
32
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0000086
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G2/M transition of mitotic cell cycle
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GO:0000278
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mitotic cell cycle
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GO:0006952
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defense response
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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 |
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InterPro |
IPR001800
Lipoprotein, type 6
IPR006594
LisH dimerisation motif
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PFAM |
PF01441
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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 |
O75665
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PhosphoSite |
PhosphoSite-O75665
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TrEMBL |
E9KL37
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UniProt Splice Variant |
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Entrez Gene |
8481
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UniGene |
Hs.6483
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RefSeq |
NP_003602
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HUGO |
HGNC:2567
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OMIM |
300170
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CCDS |
CCDS14157
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HPRD |
02162
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IMGT |
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EMBL |
AC003037
AK290354
BC096344
CH471074
GU727634
Y15164
Y16355
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GenPept |
AAH96344
ADU87636
BAF83043
CAA75436
CAA76185
EAW98835
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