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
Orthologs
SpeciesHumanMouse
Entrez

421

11877

Ensembl

ENSG00000099889

ENSMUSG00000000325

UniProt

O00192

P98203

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

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000099889 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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.

Further reading


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