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Oral Facial Digital Syndrome Protein 1 (OFD1)

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71-7A; CXorf5; SGBS2; JBTS10

Oral Facial Digital Syndrome Protein 1 (OFD1)
CCC K339
HGNC 2567
MGI 1350328
PubMed 20230748
RGD 1562231
UniProt O75665
Wiki OFD1
OFD1 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Oral Facial Digital Syndrome Protein 1 (OFD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Oral Facial Digital Syndrome Protein 1 (OFD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Oral Facial Digital Syndrome Protein 1 (OFD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Oral Facial Digital Syndrome Protein 1 (OFD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Oral Facial Digital Syndrome Protein 1 (OFD1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Oral Facial Digital Syndrome Protein 1 (OFD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Oral Facial Digital Syndrome Protein 1 (OFD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Oral Facial Digital Syndrome Protein 1 (OFD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Oral Facial Digital Syndrome Protein 1 (OFD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Oral Facial Digital Syndrome Protein 1 (OFD1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Oral Facial Digital Syndrome Protein 1 (OFD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Oral Facial Digital Syndrome Protein 1 (OFD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Oral Facial Digital Syndrome Protein 1 (OFD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Oral Facial Digital Syndrome Protein 1 (OFD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Oral Facial Digital Syndrome Protein 1 (OFD1) ELISA Kit Customized Service Offer
  1. "Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains."Genomics 51:243-250(1998) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "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. 14:680-689(2003) [PubMed] [Europe PMC] [Abstract]
  5. "Proteomic characterization of the human centrosome by protein correlation profiling."Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
  6. "A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome."Hum. Genet. 120:171-178(2006) [PubMed] [Europe PMC] [Abstract]
  7. "Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex."Mol. Biol. Cell 18:4397-4404(2007) [PubMed] [Europe PMC] [Abstract]
  8. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  9. "OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin."Am. J. Hum. Genet. 85:465-481(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Ofd1, a human disease gene, regulates the length and distal structure of centrioles."Dev. Cell 18:410-424(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy." Nat. Genet. 42:840-850(2010) [PubMed] [Europe PMC] [Abstract]
  12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  13. "Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)."Hum. Mol. Genet. 21:3647-3654(2012) [PubMed] [Europe PMC] [Abstract]
  14. "A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis."EMBO J. 32:3029-3040(2013) [PubMed] [Europe PMC] [Abstract]
  15. "Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites."Nature 502:254-257(2013) [PubMed] [Europe PMC] [Abstract]
  16. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  17. "The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation." Nat. Genet. 46:905-911(2014) [PubMed] [Europe PMC] [Abstract]
  18. "Identification of the gene for oral-facial-digital type I syndrome."Am. J. Hum. Genet. 68:569-576(2001) [PubMed] [Europe PMC] [Abstract]
  19. "Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1."J. Med. Genet. 39:292-296(2002) [PubMed] [Europe PMC] [Abstract]
  20. "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. 43:54-61(2006) [PubMed] [Europe PMC] [Abstract]
  21. "Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability." Hum. Mutat. 34:237-247(2013) [PubMed] [Europe PMC] [Abstract]