Homo sapiens Gene: OFD1
Summary
InnateDB Gene IDBG-45101.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OFD1
Gene Name oral-facial-digital syndrome 1
Synonyms 71-7A; CXorf5; JBTS10; RP23; SGBS2
Species Homo sapiens
Ensembl Gene ENSG00000046651
Encoded Proteins
oral-facial-digital syndrome 1
oral-facial-digital syndrome 1
oral-facial-digital syndrome 1
oral-facial-digital syndrome 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:13734745-13769353
Strand Forward strand
Band p22.2
Transcripts
ENST00000380567 ENSP00000369941
ENST00000340096 ENSP00000344314
ENST00000380550 ENSP00000369923
ENST00000398395 ENSP00000381432
ENST00000485052
ENST00000490265
ENST00000466534
ENST00000464463
ENST00000474705
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:0006952 defense response
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:0005829 cytosol
GO:0005929 cilium
GO:0009279 cell outer membrane
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0034451 centriolar satellite
GO:0036064 ciliary basal body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Regulation of PLK1 Activity at G2/M Transition pathway
Loss of Nlp from mitotic centrosomes pathway
Loss of proteins required for interphase microtubule organization√?¬†from the centrosome pathway
Recruitment of mitotic centrosome proteins and complexes pathway
Signaling by Hedgehog pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
Cell Cycle pathway
Centrosome maturation pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Mitotic G2-G2/M phases pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.611164 Hs.6483
RefSeq NM_003611 XM_005274599 XM_005274600 XM_005274601 XM_005274603 XM_005274604 XM_005274605
HUGO
OMIM
CCDS CCDS14157
HPRD 02162
IMGT
EMBL
GenPept
RNA Seq Atlas