ADP-RIBOSYLATION FACTOR-LIKE GTPase 14 EFFECTOR PROTEIN; ARL14EP

Alternative titles; symbols

• ADP-RIBOSYLATION FACTOR 7 EFFECTOR PROTEIN; ARF7EP
• CHROMOSOME 11 OPEN READING FRAME 46; C11ORF46

HGNC Approved Gene Symbol: ARL14EP

Cytogenetic location: 11p14.1 Genomic coordinates (GRCh38): 11:30,323,103-30,338,457 (from NCBI)

▼ Cloning and Expression
By searching for genes in a region of chromosome 11 associated with WAGR syndrome (194072), Gawin et al. (1999) identified and cloned C11ORF46, which they designated clone 141181. Northern blot analysis detected a 3-kb C11ORF46 transcript in most tissues examined.

Using yeast 2-hybrid analysis, Paul et al. (2011) identified human C11ORF46, which they termed ARF7EP, as an ARF7 (ARL14; 614439)-interacting protein. They stated that ARF7EP is a 29-kD protein that is selectively expressed in the immune system.

▼ Gene Function
Using immunoprecipitation and confocal microscopy analyses in human cells, Paul et al. (2011) confirmed that ARF7EP colocalized and interacted with ARF7. Pull-down and mass spectrometric analyses showed that ARF7EP interacted with beta-actin (ACTB; 102630) and MYO1E (601479). Paul et al. (2011) proposed that ARF7 may connect to the actin network via ARF7EP-MYO1E to control the export of major histocompatibility class II molecules.

▼ Mapping
By analysis of a PAC contig, Gawin et al. (1999) mapped the C11ORF46 gene to chromosome 11p14.1-p13.