释义 |
- Function
- Interactions
- References
- External links
- Further reading
{{Infobox_gene}}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.[3] Interactions ARVCF has been shown to interact with CDH15.[4] References 1. ^{{cite journal | vauthors = 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 | title = Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome | journal = Genomics | volume = 41 | issue = 1 | pages = 75–83 | date = May 1997 | pmid = 9126485 | pmc = | doi = 10.1006/geno.1997.4627 }} 2. ^{{cite journal | vauthors = Kausalya PJ, Phua DC, Hunziker W | title = 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 | journal = Mol Biol Cell | volume = 15 | issue = 12 | pages = 5503–15 | date = November 2004 | pmid = 15456900 | pmc = 532029 | doi = 10.1091/mbc.E04-04-0350 }} 3. ^1 {{cite web | title = Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=421| accessdate = }} 4. ^{{cite journal | vauthors = Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A | title = The armadillo repeat region targets ARVCF to cadherin-based cellular junctions | journal = J. Cell Sci. | volume = 113 | issue = 22 | pages = 4121–35 | date = November 2000 | pmid = 11058098 | authorlink = }}
External links Further reading {{refbegin | 2}}- {{cite journal | vauthors = Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A | title = Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions | journal = Am. J. Med. Genet. | volume = 57 | issue = 3 | pages = 514–22 | year = 1995 | pmid = 7677167 | doi = 10.1002/ajmg.1320570339 }}
- {{cite journal | vauthors = Sirotkin H, Morrow B, Saint-Jore B, Puech A, Das Gupta R, Patanjali SR, Skoultchi A, Weissman SM, Kucherlapati R | title = 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 | journal = Genomics | volume = 42 | issue = 2 | pages = 245–51 | year = 1997 | pmid = 9192844 | doi = 10.1006/geno.1997.4734 }}
- {{cite journal | vauthors = Bonné S, van Hengel J, van Roy F | title = Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily | journal = Genomics | volume = 51 | issue = 3 | pages = 452–4 | year = 1998 | pmid = 9721216 | doi = 10.1006/geno.1998.5398 }}
- {{cite journal | vauthors = Mariner DJ, Wang J, Reynolds AB | title = ARVCF localizes to the nucleus and adherens junction and is mutually exclusive with p120(ctn) in E-cadherin complexes | journal = J. Cell Sci. | volume = 113 | issue = 8 | pages = 1481–90 | year = 2000 | pmid = 10725230 | doi = }}
- {{cite journal | vauthors = Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A | title = The armadillo repeat region targets ARVCF to cadherin-based cellular junctions | journal = J. Cell Sci. | volume = 113 | issue = 22 | pages = 4121–35 | year = 2001 | pmid = 11058098 | doi = }}
- {{cite journal | vauthors = Laura RP, Witt AS, Held HA, Gerstner R, Deshayes K, Koehler MF, Kosik KS, Sidhu SS, Lasky LA | title = The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF | journal = J. Biol. Chem. | volume = 277 | issue = 15 | pages = 12906–14 | year = 2002 | pmid = 11821434 | doi = 10.1074/jbc.M200818200 }}
- {{cite journal | vauthors = Sanders AR, Rusu I, Duan J, Vander Molen JE, Hou C, Schwab SG, Wildenauer DB, Martinez M, Gejman PV | title = Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia | journal = Mol. Psychiatry | volume = 10 | issue = 4 | pages = 353–65 | year = 2005 | pmid = 15340358 | doi = 10.1038/sj.mp.4001586 }}
- {{cite journal | vauthors = Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP | title = Phosphoproteomic analysis of the developing mouse brain | journal = Mol. Cell. Proteomics | volume = 3 | issue = 11 | pages = 1093–101 | year = 2005 | pmid = 15345747 | doi = 10.1074/mcp.M400085-MCP200 }}
- {{cite journal | vauthors = Ulfig N, Chan WY | title = Expression of ARVCF in the human ganglionic eminence during fetal development | journal = Dev. Neurosci. | volume = 26 | issue = 1 | pages = 38–44 | year = 2005 | pmid = 15509897 | doi = 10.1159/000080710 }}
- {{cite journal | vauthors = 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 | title = Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios | journal = Am. J. Med. Genet. B Neuropsychiatr. Genet. | volume = 139 | issue = 1 | pages = 45–50 | year = 2006 | pmid = 16118784 | doi = 10.1002/ajmg.b.30230 }}
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