InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-45103

oral-facial-digital syndrome 1

IDBP-45105

oral-facial-digital syndrome 1

IDBP-45107

oral-facial-digital syndrome 1

IDBP-233114

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