Mus musculus Gene: Ofd1
Summary
InnateDB Gene IDBG-185282.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ofd1
Gene Name oral-facial-digital syndrome 1 gene homolog (human)
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000040586
Encoded Proteins
oral-facial-digital syndrome 1 gene homolog (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000046651:
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:166390033-166440704
Strand Reverse strand
Band F5
Transcripts
ENSMUST00000049501 ENSMUSP00000041744
Interactions
Number of Interactions 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.
Predicted by orthology
Total 12 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0043014 alpha-tubulin binding
GO:0043015 gamma-tubulin binding
Biological Process
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:0005929 cilium
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0034451 centriolar satellite
GO:0036064 ciliary basal body
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Recruitment of mitotic centrosome proteins and complexes pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Hedgehog 'off' state pathway
Loss of Nlp from mitotic centrosomes pathway
Cell Cycle pathway
Mitotic G2-G2/M phases pathway
Loss of proteins required for interphase microtubule organization√?¬†from the centrosome pathway
Regulation of PLK1 Activity at G2/M Transition pathway
Signaling by Hedgehog pathway
Signal Transduction pathway
Centrosome maturation pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
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 Q80Z25
TrEMBL A2AEG2 Q3URP3 Q99JH6
UniProt Splice Variant
Entrez Gene 237222
UniGene Mm.247480
RefSeq NM_177429 XM_006528839
OMIM
CCDS CCDS53248
HPRD
IMGT
MGI ID MGI:1350328
MGI Symbol Ofd1
EMBL AJ278702 AJ438159 AK141310 AL671905 AL672174 BC119070 BC120487 CH466571
GenPept AAI19071 AAI20488 BAE24645 CAC34795 CAD27225 EDL40732
RNA Seq Atlas 237222