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OFD1

Identifiers

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

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	Xp22.2	Start	13,734,743 bp^[1]
Band	Xp22.2	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]
Band	X F5\|X 77.28 cM	End	165,223,700 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

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

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]

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]

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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.
^ ^a ^b "Entrez Gene: OFD1 oral-facial-digital syndrome 1".

External links

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

Alitalo T, Francis F, Kere J, et al. (1995). "A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes". Genomics. 25 (3): 691–700. doi:10.1016/0888-7543(95)80012-B. PMID 7759104.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Brzustowicz LM, Farrell S, Khan MB, Weksberg R (1999). "Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome". Am. J. Hum. Genet. 65 (3): 779–83. doi:10.1086/302527. PMC 1377986. PMID 10441586.
Ferrante MI, Giorgio G, Feather SA, et al. (2001). "Identification of the gene for oral-facial-digital type I syndrome". Am. J. Hum. Genet. 68 (3): 569–76. doi:10.1086/318802. PMC 1274470. PMID 11179005.
Emes RD, Ponting CP (2002). "A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration". Hum. Mol. Genet. 10 (24): 2813–20. doi:10.1093/hmg/10.24.2813. PMID 11734546.
Rakkolainen A, Ala-Mello S, Kristo P, et al. (2002). "Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1". J. Med. Genet. 39 (4): 292–6. doi:10.1136/jmg.39.4.292. PMC 1735103. PMID 11950863.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Romio L, Wright V, Price K, et al. (2003). "OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells". J. Am. Soc. Nephrol. 14 (3): 680–9. doi:10.1097/01.ASN.0000054497.48394.D2. PMID 12595504.
Ferrante MI, Barra A, Truong JP, et al. (2004). "Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant". Genomics. 81 (6): 560–9. doi:10.1016/S0888-7543(03)00091-0. PMID 12782125.
Andersen JS, Wilkinson CJ, Mayor T, et al. (2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–4. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID 14654843. S2CID 4427303.
Romio L, Fry AM, Winyard PJ, et al. (2005). "OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis". J. Am. Soc. Nephrol. 15 (10): 2556–68. doi:10.1097/01.ASN.0000140220.46477.5C. PMID 15466260.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Thauvin-Robinet C, Cossée M, Cormier-Daire V, et al. (2006). "Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study". J. Med. Genet. 43 (1): 54–61. doi:10.1136/jmg.2004.027672. PMC 2564504. PMID 16397067.
Budny B, Chen W, Omran H, et al. (2007). "A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome". Hum. Genet. 120 (2): 171–8. doi:10.1007/s00439-006-0210-5. PMID 16783569. S2CID 20471001.

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

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

This page was last edited on 4 September 2022, at 22:10

OFD1

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See also

References

External links

Further reading