InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OFD1

Summary

InnateDB Protein

IDBP-233114.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

OFD1

Protein Name

oral-facial-digital syndrome 1

Synonyms

71-7A; CXorf5; JBTS10; RP23; SGBS2;

Species

Homo sapiens

Ensembl Protein

ENSP00000381432

InnateDB Gene

IDBG-45101 (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 (By similarity). {ECO:0000250}.

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}.

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.

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}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.

Experimentally validated
Total	32 [view]
Protein-Protein	32 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0043014	alpha-tubulin binding
GO:0043015	gamma-tubulin binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0060271	cilium morphogenesis
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry

Cellular Component

GO:0005634	nucleus
GO:0005813	centrosome
GO:0005814	centriole
GO:0005829	cytosol
GO:0005929	cilium
GO:0015630	microtubule cytoskeleton
GO:0016020	membrane
GO:0034451	centriolar satellite
GO:0036064	ciliary basal body