ARVCF

ARVCF
Identifiers
Aliases	ARVCF , armadillo repeat gene deleted in velocardiofacial syndrome, delta catenin family member, ARVCF delta catenin family member
External IDs	OMIM: 602269; MGI: 109620; HomoloGene: 31046; GeneCards: ARVCF; OMA:ARVCF - orthologs
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q11.21 Start 19,969,896 bp [1] End 20,016,823 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16 A3|16 11.37 cM Start 18,348,182 bp [2] End 18,407,076 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere right hemisphere of cerebellum beta cell olfactory bulb right lobe of thyroid gland ventricular zone ascending aorta vena cava apex of heart sural nerve Top expressed in lens ventricular zone mesencephalon ganglionic eminence neural tube uterus hypothalamus placenta lip rhombencephalon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding cadherin binding Cellular component cytoplasm plasma membrane intracellular anatomical structure nucleus cell-cell junction Biological process multicellular organism development calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules cell adhesion cell-cell adhesion cell-cell junction assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 421 11877 Ensembl ENSG00000099889 ENSMUSG00000000325 UniProt O00192 P98203 RefSeq (mRNA) NM_001670 NM_001272028 NM_001272029 NM_001272030 NM_001272031 NM_001272032 NM_033474 RefSeq (protein) NP_001661 NP_001258957 NP_001258958 NP_001258959 NP_001258960 NP_001258961 NP_258435 Location (UCSC) Chr 22: 19.97 – 20.02 Mb Chr 16: 18.35 – 18.41 Mb PubMed search [3] [4]
Wikidata
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Armadillo repeat protein deleted in velo-cardio-facial syndrome is a protein that in humans is encoded by the ARVCF gene. ^{[5] [6] [7]}

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. ^[7]

Interactions

ARVCF has been shown to interact with CDH15. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000099889 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000000325 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. Kausalya PJ, Phua DC, Hunziker W (November 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.
7. "Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome".
8. Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A (November 2000). "The armadillo repeat region targets ARVCF to cadherin-based cellular junctions". J. Cell Sci. 113 (22): 4121–35. doi:10.1242/jcs.113.22.4121. PMID   11058098.

External links

• Human ARVCF genome location and ARVCF gene details page in the UCSC Genome Browser .

Further reading

• Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A (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, Puech A, Das Gupta R, Patanjali SR, Skoultchi A, Weissman SM, Kucherlapati R (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 (8): 1481–90. doi:10.1242/jcs.113.8.1481. PMID   10725230.
• Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A (2001). "The armadillo repeat region targets ARVCF to cadherin-based cellular junctions". J. Cell Sci. 113 (22): 4121–35. doi:10.1242/jcs.113.22.4121. PMID   11058098.
• Laura RP, Witt AS, Held HA, Gerstner R, Deshayes K, Koehler MF, Kosik KS, Sidhu SS, Lasky LA (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.
• Sanders AR, Rusu I, Duan J, Vander Molen JE, Hou C, Schwab SG, Wildenauer DB, Martinez M, Gejman PV (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, Schwartz D, Gygi SP (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. S2CID   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 (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. S2CID   25227246.