Disease relevance of ARVCF

• Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome [1].
• Whereas the zonula adhaerens of human intestinal and colonic epithelial cells, and of carcinomas derived therefrom, contains the additional armadillo-type plaque protein ARVCF, this protein has not been detected in the zonula adhaerens of hepatocytes [2].

Psychiatry related information on ARVCF

• Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios [3].

High impact information on ARVCF

• Here, we show that ARVCF interacts via a C-terminal PDZ-binding motif with zonula occludens (ZO)-1 and ZO-2 [4].
• Nuclear localization of ARVCF also requires the PDZ-binding motif and can be mediated by the PDZ domains of ZO-2 [4].
• E-cadherin binding and plasma membrane localization of ARVCF require the PDZ-binding motif [4].
• Disruption of cell-cell adhesion releases ARVCF from the plasma membrane and an increased fraction of the protein localizes to the nucleus [4].
• ARVCF, an armadillo-repeat protein of the p120(ctn) family, associates with classical cadherins and is present in adherens junctions, but its function is poorly understood [4].

Biological context of ARVCF

• We found nominal evidence for association of illness to rs165849 (P=0.051) in ARVCF, and a stronger signal (global P=0.0019-0.0036) from three-marker haplotypes spanning the 3' portions of COMT and ARVCF, including Val(108/158)Met with Val(108/158) being the overtransmitted allele, consistent with previous studies [5].
• We also find Val(108/158)Met to be in linkage disequilibrium with the markers in ARVCF [5].
• In the present study, we extended the original sample to include 85 family trios [66 AN restricting (AN-R) and 19 bingeing/purging (AN-BP) subtype] and performed a family-based transmission disequilibrium test (TDT) analysis for five SNPs in the COMT and two in the adjacent ARVCF gene [3].
• ARVCF also completely lacked the ability to induce the cell-branching phenotype associated with overexpression of p120 [6].
• ARVCF is a novel Armadillo repeat domain protein that is closely related to the catenin p120(ctn) [6].

Anatomical context of ARVCF

• Bands of ARVCF-positive cells were also identified in the gangliothalamic body, a transient target for the migrating neurons from the GE to the thalamus [7].

Other interactions of ARVCF

• ARVCF and ZO-1 partially colocalize in the vicinity of the apical adhesion complex in polarized epithelial Madin-Darby canine kidney cells [4].
• These results suggest that delta-catenin and ARVCF may function to mediate the association of Erbin with the junctional cadherin-catenin complex [8].
• These findings support previous association signals of schizophrenia to COMT markers, and suggest that ARVCF might contribute to this signal [5].
• ARVCF localizes to the nucleus and adherens junction and is mutually exclusive with p120(ctn) in E-cadherin complexes [6].
• Variant forms for other transcripts, including those encoding the apoptosis inhibitor Livin and the armadillo repeat protein ARVCF, are also described [9].

Analytical, diagnostic and therapeutic context of ARVCF

• Surprisingly, despite apparently ubiquitous expression, ARVCF was at least tenfold less abundant than p120 in a wide variety of cell types, and was difficult to detect by immunofluorescence unless overexpressed [6].
• Six ARVCF-specific MAbs were characterized for isotype, species cross-reactivity, and utility in assays including immunofluorescence, immunoprecipitation, and Western blotting [10].

References