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{{Infobox_gene}}
'''Oral-facial-digital syndrome 1 protein''' is a [[protein]] that in humans is encoded by the ''OFD1'' [[gene]].<ref name="pmid9722947">{{cite journal | vauthors = de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S | title = Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains | journal = Genomics | volume = 51 | issue = 2 | pages = 243–50 |date=Nov 1998 | pmid = 9722947 | pmc =  | doi = 10.1006/geno.1998.5348 }}</ref><ref name="pmid9215688">{{cite journal | vauthors = Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM | title = The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3 | journal = Hum Mol Genet | volume = 6 | issue = 7 | pages = 1163–7 |date=Aug 1997 | pmid = 9215688 | pmc =  | doi =10.1093/hmg/6.7.1163  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: OFD1 oral-facial-digital syndrome 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8481| accessdate = }}</ref>
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = 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]<ref name="entrez"/>
}}
==See also==
* [[Orofaciodigital syndrome 1]]
==References==
{{Reflist}}
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1  GeneReviews/NCBI/NIH/UW entry on Oral-Facial-Digital Syndrome Type I]
==Further reading==
{{Refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{Cite journal  |vauthors=Alitalo T, Francis F, Kere J, etal |title=A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes. |journal=Genomics |volume=25 |issue= 3 |pages= 691–700 |year= 1995 |pmid= 7759104 |doi=10.1016/0888-7543(95)80012-B  }}
*{{Cite journal  | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8  }}
*{{Cite journal  |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3  }}
*{{Cite journal  | vauthors=Brzustowicz LM, Farrell S, Khan MB, Weksberg R |title=Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome |journal=Am. J. Hum. Genet. |volume=65 |issue= 3 |pages= 779–83 |year= 1999 |pmid= 10441586 |doi=10.1086/302527  | pmc=1377986  }}
*{{Cite journal  |vauthors=Ferrante MI, Giorgio G, Feather SA, etal |title=Identification of the gene for oral-facial-digital type I syndrome |journal=Am. J. Hum. Genet. |volume=68 |issue= 3 |pages= 569–76 |year= 2001 |pmid= 11179005 |doi=10.1086/318802  | pmc=1274470  }}
*{{Cite journal  | vauthors=Emes RD, Ponting CP |title=A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration |journal=Hum. Mol. Genet. |volume=10 |issue= 24 |pages= 2813–20 |year= 2002 |pmid= 11734546 |doi=10.1093/hmg/10.24.2813  }}
*{{Cite journal  |vauthors=Rakkolainen A, Ala-Mello S, Kristo P, etal |title=Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1 |journal=J. Med. Genet. |volume=39 |issue= 4 |pages= 292–6 |year= 2002 |pmid= 11950863 |doi=10.1136/jmg.39.4.292  | pmc=1735103  }}
*{{Cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
*{{Cite journal  |vauthors=Romio L, Wright V, Price K, etal |title=OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells |journal=J. Am. Soc. Nephrol. |volume=14 |issue= 3 |pages= 680–9 |year= 2003 |pmid= 12595504 |doi=10.1097/01.ASN.0000054497.48394.D2  }}
*{{Cite journal  |vauthors=Ferrante MI, Barra A, Truong JP, etal |title=Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant |journal=Genomics |volume=81 |issue= 6 |pages= 560–9 |year= 2004 |pmid= 12782125 |doi=10.1016/S0888-7543(03)00091-0  }}
*{{Cite journal  |vauthors=Andersen JS, Wilkinson CJ, Mayor T, etal |title=Proteomic characterization of the human centrosome by protein correlation profiling |journal=Nature |volume=426 |issue= 6966 |pages= 570–4 |year= 2003 |pmid= 14654843 |doi= 10.1038/nature02166 }}
*{{Cite journal  |vauthors=Romio L, Fry AM, Winyard PJ, etal |title=OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis |journal=J. Am. Soc. Nephrol. |volume=15 |issue= 10 |pages= 2556–68 |year= 2005 |pmid= 15466260 |doi= 10.1097/01.ASN.0000140220.46477.5C }}
*{{Cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{Cite journal  |vauthors=Thauvin-Robinet C, Cossée M, Cormier-Daire V, etal |title=Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study |journal=J. Med. Genet. |volume=43 |issue= 1 |pages= 54–61 |year= 2006 |pmid= 16397067 |doi= 10.1136/jmg.2004.027672  | pmc=2564504 }}
*{{Cite journal  |vauthors=Budny B, Chen W, Omran H, etal |title=A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome |journal=Hum. Genet. |volume=120 |issue= 2 |pages= 171–8 |year= 2007 |pmid= 16783569 |doi= 10.1007/s00439-006-0210-5 }}
}}
{{Refend}}
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{Ciliary proteins}}
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Oral-facial-digital syndrome 1
| HGNCid = 2567
| Symbol = OFD1
| AltSymbols =; 71-7A; CXorf5; MGC117039; MGC117040; SGBS2
| OMIM = 300170
| ECnumber = 
| Homologene = 2677
| MGIid = 1350328
| GeneAtlas_image1 = PBB_GE_OFD1_203569_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}}
| Process = {{GNF_GO|id=GO:0008150 |text = biological_process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8481
    | Hs_Ensembl = ENSG00000046651
    | Hs_RefseqProtein = NP_003602
    | Hs_RefseqmRNA = NM_003611
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 13662785
    | Hs_GenLoc_end = 13697393
    | Hs_Uniprot = O75665
    | Mm_EntrezGene = 237222
    | Mm_Ensembl = ENSMUSG00000040586
    | Mm_RefseqmRNA = NM_177429
    | Mm_RefseqProtein = NP_803178
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 161735121
    | Mm_GenLoc_end = 161784238
    | Mm_Uniprot = 
  }}
}}
'''Oral-facial-digital syndrome 1''', also known as '''OFD1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: OFD1 oral-facial-digital syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8481| accessdate = }}</ref>
 
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = 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]<ref name="entrez">{{cite web | title = Entrez Gene: OFD1 oral-facial-digital syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8481| accessdate = }}</ref>
}}


==References==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Alitalo T, Francis F, Kere J, ''et al.'' |title=A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes. |journal=Genomics |volume=25 |issue= 3 |pages= 691-700 |year= 1995 |pmid= 7759104 |doi=  }}
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
*{{cite journal  | author=Feather SA, Woolf AS, Donnai D, ''et al.'' |title=The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. |journal=Hum. Mol. Genet. |volume=6 |issue= 7 |pages= 1163-7 |year= 1997 |pmid= 9215688 |doi=  }}
*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi=  }}
*{{cite journal  | author=de Conciliis L, Marchitiello A, Wapenaar MC, ''et al.'' |title=Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. |journal=Genomics |volume=51 |issue= 2 |pages= 243-50 |year= 1998 |pmid= 9722947 |doi= 10.1006/geno.1998.5348 }}
*{{cite journal  | author=Brzustowicz LM, Farrell S, Khan MB, Weksberg R |title=Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. |journal=Am. J. Hum. Genet. |volume=65 |issue= 3 |pages= 779-83 |year= 1999 |pmid= 10441586 |doi=  }}
*{{cite journal  | author=Ferrante MI, Giorgio G, Feather SA, ''et al.'' |title=Identification of the gene for oral-facial-digital type I syndrome. |journal=Am. J. Hum. Genet. |volume=68 |issue= 3 |pages= 569-76 |year= 2001 |pmid= 11179005 |doi=  }}
*{{cite journal  | author=Emes RD, Ponting CP |title=A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. |journal=Hum. Mol. Genet. |volume=10 |issue= 24 |pages= 2813-20 |year= 2002 |pmid= 11734546 |doi=  }}
*{{cite journal  | author=Rakkolainen A, Ala-Mello S, Kristo P, ''et al.'' |title=Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. |journal=J. Med. Genet. |volume=39 |issue= 4 |pages= 292-6 |year= 2002 |pmid= 11950863 |doi=  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Romio L, Wright V, Price K, ''et al.'' |title=OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. |journal=J. Am. Soc. Nephrol. |volume=14 |issue= 3 |pages= 680-9 |year= 2003 |pmid= 12595504 |doi=  }}
*{{cite journal  | author=Ferrante MI, Barra A, Truong JP, ''et al.'' |title=Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant. |journal=Genomics |volume=81 |issue= 6 |pages= 560-9 |year= 2004 |pmid= 12782125 |doi=  }}
*{{cite journal  | author=Andersen JS, Wilkinson CJ, Mayor T, ''et al.'' |title=Proteomic characterization of the human centrosome by protein correlation profiling. |journal=Nature |volume=426 |issue= 6966 |pages= 570-4 |year= 2003 |pmid= 14654843 |doi= 10.1038/nature02166 }}
*{{cite journal  | author=Romio L, Fry AM, Winyard PJ, ''et al.'' |title=OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. |journal=J. Am. Soc. Nephrol. |volume=15 |issue= 10 |pages= 2556-68 |year= 2005 |pmid= 15466260 |doi= 10.1097/01.ASN.0000140220.46477.5C }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Thauvin-Robinet C, Cossée M, Cormier-Daire V, ''et al.'' |title=Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. |journal=J. Med. Genet. |volume=43 |issue= 1 |pages= 54-61 |year= 2006 |pmid= 16397067 |doi= 10.1136/jmg.2004.027672 }}
*{{cite journal  | author=Budny B, Chen W, Omran H, ''et al.'' |title=A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. |journal=Hum. Genet. |volume=120 |issue= 2 |pages= 171-8 |year= 2007 |pmid= 16783569 |doi= 10.1007/s00439-006-0210-5 }}
}}
{{refend}}


{{protein-stub}}
{{gene-X-stub}}
{{WikiDoc Sources}}

Revision as of 00:22, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.[1][2][3]

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][3]

See also

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: OFD1 oral-facial-digital syndrome 1".

External links

Further reading



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