Alternative titles; symbolsKIAA1548HGNC Approved Gene Symbol: EPB41L5Cytogenetic location: 2q14.2 Genomic coordinates (GRCh38): 2:120,013,031-120,179,118 (fr...
Alternative titles; symbols
HGNC Approved Gene Symbol: EPB41L5
Cytogenetic location: 2q14.2 Genomic coordinates (GRCh38): 2:120,013,031-120,179,118 (from NCBI)
▼ Cloning and Expression
By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned EPB41L5, which they designated KIAA1548. RT-PCR ELISA detected expression in all tissues tested, with highest expression in kidney, ovary, and brain.
Jensen and Westerfield (2004) identified human EPB41L5 as the homolog of the zebrafish 'mosaic eyes' (moe) gene. The deduced EPB41L5 and moe proteins share 61% overall sequence identity and 87% identity in the N terminus. Both proteins contain a conserved FERM domain present in members of the EPB41 (130500) family of cytoskeletal proteins.
▼ Gene Function
Jensen et al. (2001) showed that the zebrafish moe gene is expressed in the retinal pigment epithelium (RPE) and that mutations in the gene produce retinal lamination defects. Jensen and Westerfield (2004) found that mutant fish also show defects in the kidney and brain, including edema and small or absent brain ventricles. Jensen and Westerfield (2004) proposed that moe is required for tight junction formation in the RPE and is part of the pathway that controls apical cell polarity in photoreceptor morphogenesis as well as in other epithelial-derived tissues.
Using an antibody to the mouse Epb41l5 protein, Gosens et al. (2007) showed that at early embryonic stages the protein localizes to the basolateral membrane compartment, whereas in adult tissues it is found at the apical domain along with Crumbs proteins (Crb1, 604210; Crb2, 609720; Crb3, 609737) and Mpp5 (606958). Overexpression of Epb41l5 affected tightness of cell junctions and resulted in disorganization of the tight junction markers ZO1 (601009) and PATJ (603199). Gosens et al. (2007) showed that Epb41L5 binds to conserved motifs in Crb1, Crb2, Crb3, and Mpp5, and is a component of the Crumbs polarity complex first identified in Drosophila. They concluded that EPB41L5 is likely to be important in cell polarity processes in many epithelial-derived tissues in addition to the retina.
Laprise et al. (2009) reported that the Drosophila FERM proteins Yurt (Yrt) and Coracle (Cora) and the membrane proteins Neurexin IV (Nrx-IV) and the sodium-potassium ATPase are a group of functionally cooperating epithelial polarity proteins. This Yrt/Cora group promotes basolateral membrane stability and shows negative regulatory interactions with the apical determinant Crumbs (see 604210). Genetic analyses indicate that the Nrx-IV and sodium-potassium ATPase act together with Cora in one pathway whereas Yrt acts in a second redundant pathway. Laprise et al. (2009) showed that the Yrt/Cora group is essential for epithelial polarity during organogenesis but not when epithelial polarity is first established or during terminal differentiation. They also found that the mammalian Yrt ortholog EPB41L5 (also known as YMO1 and Limulus) is required for lateral membrane formation, indicating a conserved function of Yrt proteins in epithelial polarity.
Jensen and Westerfield (2004) stated that the EPB41L5 gene maps to chromosome 2q14 and is adjacent to the PTPN4 gene (176878), and that the moe gene in zebrafish is also adjacent to the Ptpn4 gene. Scott (2008) noted that these findings indicate that EPB41L5 and moe are true orthologs.
Gross (2018) mapped the EPB41L5 gene to chromosome 2q14.2 based on an alignment of the EPB41L5 sequence (GenBank BC054508) with the genomic sequence (GRCh38).