Bos taurus Gene: OFD1
Summary
InnateDB Gene IDBG-638987.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OFD1
Gene Name oral-facial-digital syndrome 1 protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000004461
Encoded Proteins
Uncharacterized protein
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:136925770-136987149
Strand Reverse strand
Band
Transcripts
ENSBTAT00000005850 ENSBTAP00000005850
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 11 interaction(s) predicted by orthology.
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
Cellular Component
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
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
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
Cross-References
SwissProt
TrEMBL F1MB20 G8GWQ4
UniProt Splice Variant
Entrez Gene 526925
UniGene Bt.105716 Bt.13790
RefSeq NM_001192637 XM_005228443 XM_005228446 XM_005228447
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02074908 DAAA02074909 DAAA02074910 JN193530 JN193531
GenPept AER36011 AER36012
RNA Seq Atlas 526925