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Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.
| RefSeq Version | NM_003611.2, 170932519 |
| Length | 3654 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA. |
| Product | oral-facial-digital syndrome 1 protein |
| Comment | Summary: This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq]. |
| RefSeq | NP_003602.1 |
| CDS | 360..3398 | Exon (1) | 1..371 | Exon (2) | 1..371 | Exon (3) | 372..470 | Exon (4) | 471..671 | Exon (5) | 672..740 | Exon (6) | 741..771 | Exon (7) | 772..876 | Exon (8) | 877..1013 | Exon (9) | 1014..1187 | Exon (10) | 1188..1294 | Exon (11) | 1295..1414 | Exon (12) | 1415..1488 | Exon (13) | 1489..1580 | Exon (14) | 1581..1770 | Exon (15) | 1771..1901 | Exon (16) | 1902..2013 | Exon (17) | 2014..2619 | Exon (18) | 2620..2746 | Exon (19) | 2747..2847 | Exon (20) | 2848..2958 | Exon (21) | 2959..3116 | Exon (22) | 3117..3287 | Exon (23) | 3288..3355 | Exon (24) | 3356..3651 |
| Translation | MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPR
SISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPT
SSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLID
DQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEK
ELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGRE
AELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNELLKYQLELKDD
YIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAI
TKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELA
VFQKELRKAEKAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQILGYKASVKSLTTQVA
DLKLQLKQTQTALENEVYCNPKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVL
ARMVASRITNYPTAWVEGSSPDSDLEFVANTKARVKELQQEAERLEKAFRSYHRRVIKNS
AKSPLAAKSPPSLHLLEAFKNITSSSPERHIFGEDRVVSEQPQVGTLEERNDVVEALTGS
AASRLRGGTSSRRLSSTPLPKAKRSLESEMYLEGLGRSHIASPSPCPDRMPLPSPTESRH
SLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEM
GGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSN
LQEVLERERRELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEK
YMKIIQQEQDQESADKSSKKMVQEGSLVDTLQSSDKVESLTGFSHEELDDSW
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| Position | Chain | Variation | Link |
| 64 | + | g, t | dbSNP:2285635 |
| 668 | + | a, t | dbSNP:12841518 |
| 1097 | + | a, g | dbSNP:11095624 |
| 1237 | + | c, t | dbSNP:61735507 |
| 1343 | + | g, t | dbSNP:61734977 |
| 1379 | + | a, g | dbSNP:5979959 |
| 1623 | + | a, g | dbSNP:61746932 |
| 1662 | + | a, c | dbSNP:122460150 |
| 2411 | + | c, t | dbSNP:61742891 |
| 2426 | + | a, g | dbSNP:113818320 |
| 2681 | + | a, g | dbSNP:61740412 |
| 2702 | + | a, c | dbSNP:111450136 |
| 3107..3108 | + | , c | dbSNP:35748745 |
| 3484 | + | a, g | dbSNP:113980014 |
| Gene Symbol | OFD1 |
| Gene Synonym | 71-7A; CXorf5; JBTS10; MGC117039; MGC117040; SGBS2 |
| Chromosome | X |
| Locus Map | Xp22 |
| All Transcripts | NM_003611 |
| Title | Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins . |
| Author | Li,J., Liu,F., Wang,H., Liu,X., Liu,J., Li,N., Wan,F., Wang,W., Zhang,C., Jin,S., Liu,J., Zhu,P. and Liu,Y. |
| Journal | Mol. Cell Proteomics 9 (11), 2517-2528 (2010) |
| Title | Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I) . |
| Author | Chetty-John,S., Piwnica-Worms,K., Bryant,J., Bernardini,I., Fischer,R.E., Heller,T., Gahl,W.A. and Gunay-Aygun,M. |
| Journal | Am. J. Med. Genet. A 152A (10), 2640-2645 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Ofd1, a human disease gene, regulates the length and distal structure of centrioles . |
| Author | Singla,V., Romaguera-Ros,M., Garcia-Verdugo,J.M. and Reiter,J.F. |
| Journal | Dev. Cell 18 (3), 410-424 (2010) |
| Title | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip . |
| Author | Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. |
| Journal | Am. J. Hum. Genet. 85 (5), 628-642 (2009) |
| Title | Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome . |
| Author | Brzustowicz,L.M., Farrell,S., Khan,M.B. and Weksberg,R. |
| Journal | Am. J. Hum. Genet. 65 (3), 779-783 (1999) |
| Title | Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains . |
| Author | de Conciliis,L., Marchitiello,A., Wapenaar,M.C., Borsani,G., Giglio,S., Mariani,M., Consalez,G.G., Zuffardi,O., Franco,B., Ballabio,A. and Banfi,S. |
| Journal | Genomics 51 (2), 243-250 (1998) |
| Title | The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3 . |
| Author | Feather,S.A., Woolf,A.S., Donnai,D., Malcolm,S. and Winter,R.M. |
| Journal | Hum. Mol. Genet. 6 (7), 1163-1167 (1997) |
| Title | Cell cycle regulation of the activity and subcellular localization of Plk1, a human protein kinase implicated in mitotic spindle function . |
| Author | Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A. |
| Journal | J. Cell Biol. 129 (6), 1617-1628 (1995) |
| Title | A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes . |
| Author | Alitalo,T., Francis,F., Kere,J., Lehrach,H., Schlessinger,D. and Willard,H.F. |
| Journal | Genomics 25 (3), 691-700 (1995) |
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