Armadillo repeat protein deleted in velo-cardio-facial syndrome is a protein that in humans is encoded by the ARVCF gene.[5][6][7]

ARVCF
Identifiers
AliasesARVCF, armadillo repeat gene deleted in velocardiofacial syndrome, delta catenin family member, ARVCF delta catenin family member
External IDsOMIM: 602269; MGI: 109620; HomoloGene: 31046; GeneCards: ARVCF; OMA:ARVCF - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001670

RefSeq (protein)

NP_001661

Location (UCSC)Chr 22: 19.97 – 20.02 MbChr 16: 18.35 – 18.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000099889Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000325Ensembl, 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. ^ a b "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.
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Further reading

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