ARVCF

From Wikipedia, the free encyclopedia

Armadillo repeat gene deletes in velocardiofacial syndrome

Identifiers

ARVCF; FLJ35345

External IDs

OMIM: 602269 MGI: 109620 HomoloGene: 31046

Gene ontology
Molecular Function:	• structural molecule activity • protein binding
Cellular Component:	• intracellular • nucleus • cytoplasm • cytoskeleton • plasma membrane
Biological Process:	• cell adhesion • multicellular organismal development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001670 (mRNA)
NP_001661 (protein)

NM_033474 (mRNA)
NP_258435 (protein)

Location

Chr 22: 18.34 - 18.38 Mb

Chr 16: 18.26 - 18.32 Mb

Pubmed search

[1]

[2]

Armadillo repeat gene deletes in velocardiofacial syndrome, also known as ARVCF, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome.

[edit] 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, O'Donnell H, DasGupta R, et al. (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. PMID 9126485.
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. 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. PMID 12477932.
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.
Kausalya PJ, Phua DC, Hunziker W (2005). "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. PMID 15456900.
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.