OFD1

OFD1
Identifiers
Aliases	OFD1, 71-7A, CXorf5, JBTS10, RP23, SGBS2, oral-facial-digital syndrome 1, centriole and centriolar satellite protein
External IDs	MGI: 1350328 HomoloGene: 2677 GeneCards: OFD1
Gene ontology Molecular function • alpha-tubulin binding • protein binding • identical protein binding • gamma-tubulin binding Cellular component • cytoplasm • ciliary basal body • cytosol • centrosome • cell projection • membrane • cilium • centriolar satellite • microtubule organizing center • centriole • cytoskeleton • nucleus Biological process • epithelial cilium movement involved in determination of left/right asymmetry • mitotic spindle assembly • cell projection organization • G2/M transition of mitotic cell cycle • centriole replication • cilium morphogenesis • ciliary basal body docking • mitotic cell cycle Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8481	237222
Ensembl	ENSG00000046651	ENSMUSG00000040586
UniProt	O75665	Q80Z25
RefSeq (mRNA)	NM_003611 NM_001330209 NM_001330210	NM_177429
RefSeq (protein)	NP_001317138 NP_001317139 NP_003602	NP_803178.2 NP_803178
Location (UCSC)	Chr X: 13.73 – 13.77 Mb	Chr X: 166.39 – 166.44 Mb
PubMed search

8481

237222

ENSG00000046651

ENSMUSG00000040586

O75665

Q80Z25

NM_003611
NM_001330209
NM_001330210

NM_177429

NP_001317138
NP_001317139
NP_003602

NP_803178.2
NP_803178

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.

Human chromosomal region Xp22.3-p21.3 comprises the area between the pseudoautosomal boundary and the Duchenne muscular dystrophy gene (MIM 300377). This region harbors several disease loci, including OFD1 (MIM 311200), CFNS (MIM 304110), DFN6 (MIM 300066), and SEDT (MIM 313400). It also contains a region of homology with both the short and the long arms of the Y chromosome and undergoes frequent chromosomal rearrangements.[supplied by OMIM]

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