OFD1

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.^[5][6][7]

OFD1
Identifiers
Aliases	OFD1, 71-7A, CXorf5, JBTS10, RP23, SGBS2, oral-facial-digital syndrome 1, centriole and centriolar satellite protein, OFD1 centriole and centriolar satellite protein
External IDs	OMIM: 300170; MGI: 1350328; HomoloGene: 2677; GeneCards: OFD1; OMA:OFD1 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.2 Start 13,734,743 bp[1] End 13,777,955 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F5|X 77.28 cM Start 165,173,029 bp[2] End 165,223,700 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm bronchial epithelial cell right uterine tube olfactory zone of nasal mucosa optic nerve parotid gland tendon of biceps brachii endometrium left lobe of thyroid gland left ovary Top expressed in primary oocyte zygote secondary oocyte fossa otic vesicle saccule motor neuron condyle substantia nigra tail of embryo More reference expression data BioGPS More reference expression data
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 extracellular region 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 assembly ciliary basal body-plasma membrane docking mitotic cell cycle regulation of G2/M transition of mitotic cell cycle Sources:Amigo / QuickGO
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 Location (UCSC) Chr X: 13.73 – 13.78 Mb Chr X: 165.17 – 165.22 Mb PubMed search [3] [4]
Wikidata
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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]^[7]

See also

• Orofaciodigital syndrome 1
• Simpson–Golabi–Behmel syndrome