ARVCF explained

Armadillo repeat protein deleted in velo-cardio-facial syndrome is a protein that in humans is encoded by the ARVCF gene.^{[1] [2] [3]}

Function

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.

Interactions

ARVCF has been shown to interact with CDH15.^[4]

Further reading

• Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A . Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions . Am. J. Med. Genet. . 57 . 3 . 514–22 . 1995 . 7677167 . 10.1002/ajmg.1320570339 .
• Sirotkin H, Morrow B, Saint-Jore B, Puech A, Das Gupta R, Patanjali SR, Skoultchi A, Weissman SM, Kucherlapati R . 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 . 1997 . 9192844 . 10.1006/geno.1997.4734 . free .
• Bonné S, van Hengel J, van Roy F . Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily . Genomics . 51 . 3 . 452–4 . 1998 . 9721216 . 10.1006/geno.1998.5398 .
• Mariner DJ, Wang J, Reynolds AB . ARVCF localizes to the nucleus and adherens junction and is mutually exclusive with p120(ctn) in E-cadherin complexes . J. Cell Sci. . 113 . 8 . 1481–90 . 2000 . 10.1242/jcs.113.8.1481 . 10725230 .
• Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A . The armadillo repeat region targets ARVCF to cadherin-based cellular junctions . J. Cell Sci. . 113 . 22 . 4121–35 . 2001 . 10.1242/jcs.113.22.4121 . 11058098 .
• Laura RP, Witt AS, Held HA, Gerstner R, Deshayes K, Koehler MF, Kosik KS, Sidhu SS, Lasky LA . 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 . 2002 . 11821434 . 10.1074/jbc.M200818200 . free .
• Sanders AR, Rusu I, Duan J, Vander Molen JE, Hou C, Schwab SG, Wildenauer DB, Martinez M, Gejman PV . Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia . Mol. Psychiatry . 10 . 4 . 353–65 . 2005 . 15340358 . 10.1038/sj.mp.4001586 . free .
• Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP . Phosphoproteomic analysis of the developing mouse brain . Mol. Cell. Proteomics . 3 . 11 . 1093–101 . 2005 . 15345747 . 10.1074/mcp.M400085-MCP200 . free .
• Ulfig N, Chan WY . Expression of ARVCF in the human ganglionic eminence during fetal development . Dev. Neurosci. . 26 . 1 . 38–44 . 2005 . 15509897 . 10.1159/000080710 . 34049725 .
• Michaelovsky E, Frisch A, Leor S, Stein D, Danziger Y, Carel C, Fennig S, Mimouni M, Klauck SM, Benner A, Poustka A, Apter A, Weizman A . 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 . 2006 . 16118784 . 10.1002/ajmg.b.30230 . 25227246 .

Notes and References

1. 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 . Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome . Genomics . 41 . 1 . 75–83 . May 1997 . 9126485 . 10.1006/geno.1997.4627 . free .
2. Kausalya PJ, Phua DC, Hunziker W . 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 . November 2004 . 15456900 . 532029 . 10.1091/mbc.E04-04-0350 .
3. Web site: Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome.
4. Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A . The armadillo repeat region targets ARVCF to cadherin-based cellular junctions . J. Cell Sci. . 113 . 22 . 4121–35 . November 2000 . 10.1242/jcs.113.22.4121 . 11058098 .