- ARVCF
Armadillo repeat gene deletes in velocardiofacial syndrome, also known as ARVCF, is a human
gene .cite web | title = Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=421| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=421| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Lindsay EA, Goldberg R, Jurecic V, "et al." |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 | author=Sirotkin H, O'Donnell H, DasGupta R, "et al." |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 |year= 1997 |pmid= 9126485 |doi=
*cite journal | author=Sirotkin H, Morrow B, Saint-Jore B, "et al." |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=
*cite journal | author=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 | author=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 ( Pt 8) |issue= |pages= 1481–90 |year= 2000 |pmid= 10725230 |doi=
*cite journal | author=Kaufmann U, Zuppinger C, Waibler Z, "et al." |title=The armadillo repeat region targets ARVCF to cadherin-based cellular junctions. |journal=J. Cell. Sci. |volume=113 ( Pt 22) |issue= |pages= 4121–35 |year= 2001 |pmid= 11058098 |doi=
*cite journal | author=Laura RP, Witt AS, Held HA, "et al." |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 | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Sanders AR, Rusu I, Duan J, "et al." |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 | author=Ballif BA, Villén J, Beausoleil SA, "et al." |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 | author=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 |year= 2005 |pmid= 15456900 |doi= 10.1091/mbc.E04-04-0350
*cite journal | author=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 | author=Michaelovsky E, Frisch A, Leor S, "et al." |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.30230PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes
Wikimedia Foundation. 2010.