OFD1

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)
End	13,777,955 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	165,223,700 bp
RNA expression pattern
	Top expressed in
	sperm; ; bronchial epithelial cell; ; right uterine tube; ; optic nerve; ; parotid gland; ; endometrium; ; left lobe of thyroid gland; ; right lobe of thyroid gland; ; body of pancreas; ; anterior pituitary;
	Top expressed in
	secondary oocyte; ; fossa; ; saccule; ; motor neuron; ; condyle; ; substantia nigra; ; Paneth cell; ; trigeminal ganglion; ; otic placode; ; conjunctival fornix;
	More reference expression data
	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
	8481
	237222
	ENSG00000046651
	ENSMUSG00000040586
	O75665
	Q80Z25
	NM_003611; NM_001330209; NM_001330210
	NM_177429
	NP_001317138; NP_001317139; NP_003602
	NP_803178
	Wikidata
View/Edit Human	View/Edit Mouse

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

Template:PBB Summary

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000046651 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040586 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S (Nov 1998). "Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains". Genomics. 51 (2): 243–50. doi:10.1006/geno.1998.5348. PMID 9722947.
^ Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM (Aug 1997). "The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3". Hum Mol Genet. 6 (7): 1163–7. doi:10.1093/hmg/6.7.1163. PMID 9215688.
^ "Entrez Gene: OFD1 oral-facial-digital syndrome 1".

External links

GeneReviews/NCBI/NIH/UW entry on Oral-Facial-Digital Syndrome Type I

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

OFD1

See also

References

External links

Further reading