ARVCF
Armadillo repeat protein deleted in velo-cardio-facial syndrome is a protein that in humans is encoded by the ARVCF gene.[1][2][3]
Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family which play an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS) a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein.[3]
Interactions
ARVCF has been shown to interact with CDH15.[4]
References
- ^ Sirotkin H, O'Donnell H, DasGupta R, Halford S, St Jore B, Puech A, Parimoo S, Morrow B, Skoultchi A, Weissman SM, Scambler P, Kucherlapati R (May 1997). "Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome". Genomics 41 (1): 75–83. doi:10.1006/geno.1997.4627. PMID 9126485.
- ^ Kausalya PJ, Phua DC, Hunziker W (Nov 2004). "Association of ARVCF with Zonula Occludens (ZO)-1 and ZO-2: Binding to PDZ-Domain Proteins and Cell-Cell Adhesion Regulate Plasma Membrane and Nuclear Localization of ARVCF". Mol Biol Cell 15 (12): 5503–15. doi:10.1091/mbc.E04-04-0350. PMC 532029. PMID 15456900. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=532029.
- ^ a b "Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=421.
- ^ Kaufmann, U; Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch B M, Eppenberger H, Starzinski-Powitz A (Nov. 2000). "The armadillo repeat region targets ARVCF to cadherin-based cellular junctions". J. Cell. Sci. (ENGLAND) 113 ( Pt 22): 4121–35. ISSN 0021-9533. PMID 11058098.
Further reading
- Lindsay EA, Goldberg R, Jurecic V, et al. (1995). "Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions". Am. J. Med. Genet. 57 (3): 514–22. doi:10.1002/ajmg.1320570339. PMID 7677167.
- Sirotkin H, Morrow B, Saint-Jore B, et al. (1997). "Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome". Genomics 42 (2): 245–51. doi:10.1006/geno.1997.4734. PMID 9192844.
- Bonné S, van Hengel J, van Roy F (1998). "Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily". Genomics 51 (3): 452–4. doi:10.1006/geno.1998.5398. PMID 9721216.
- Mariner DJ, Wang J, Reynolds AB (2000). "ARVCF localizes to the nucleus and adherens junction and is mutually exclusive with p120(ctn) in E-cadherin complexes". J. Cell. Sci. 113 ( Pt 8): 1481–90. PMID 10725230.
- Kaufmann U, Zuppinger C, Waibler Z, et al. (2001). "The armadillo repeat region targets ARVCF to cadherin-based cellular junctions". J. Cell. Sci. 113 ( Pt 22): 4121–35. PMID 11058098.
- Laura RP, Witt AS, Held HA, et al. (2002). "The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF". J. Biol. Chem. 277 (15): 12906–14. doi:10.1074/jbc.M200818200. PMID 11821434.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Sanders AR, Rusu I, Duan J, et al. (2005). "Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia". Mol. Psychiatry 10 (4): 353–65. doi:10.1038/sj.mp.4001586. PMID 15340358.
- Ballif BA, Villén J, Beausoleil SA, et al. (2005). "Phosphoproteomic analysis of the developing mouse brain". Mol. Cell Proteomics 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
- Ulfig N, Chan WY (2005). "Expression of ARVCF in the human ganglionic eminence during fetal development". Dev. Neurosci. 26 (1): 38–44. doi:10.1159/000080710. PMID 15509897.
- Michaelovsky E, Frisch A, Leor S, et al. (2006). "Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios". Am. J. Med. Genet. B Neuropsychiatr. Genet. 139 (1): 45–50. doi:10.1002/ajmg.b.30230. PMID 16118784.