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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signaling by Hedgehog pathway
Loss of Nlp from mitotic centrosomes pathway
Recruitment of mitotic centrosome proteins and complexes pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
Regulation of PLK1 Activity at G2/M Transition pathway
Cell Cycle pathway
Centrosome maturation pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Loss of proteins required for interphase microtubule organization√?¬†from the centrosome pathway
Mitotic G2-G2/M phases pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O75665
TrEMBL A6NF31 A8K2T9 B4DLQ3 E9KL37 Q4VAK3
UniProt Splice Variant
Entrez Gene 8481
UniGene Hs.611164 Hs.6483
RefSeq NM_003611 XM_005274599 XM_005274600 XM_005274601 XM_005274603 XM_005274604 XM_005274605
HUGO HGNC:2567
OMIM 300170
CCDS CCDS14157
HPRD
IMGT
EMBL AC003037 AK290354 AK297104 BC096344 BC096345 CH471074 GU727634 Y15164 Y16355
GenPept AAH96344 AAH96345 ADU87636 BAF83043 BAG59615 CAA75436 CAA76185 EAW98835
RNA Seq Atlas 8481