Alternative titles; symbols
HGNC Approved Gene Symbol: KCNE5
Cytogenetic location: Xq23 Genomic coordinates (GRCh38) : X:109,623,700-109,625,172 (from NCBI)
By database searching with an EST that mapped to the region commonly deleted in the AMME (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis) contiguous gene syndrome (300194) on Xq22.3, followed by 5-prime RACE and screening of an undifferentiated NT2 neuron and a placenta cDNA library, Piccini et al. (1999) cloned a novel full-length cDNA encoding a deduced 142-amino acid protein designated KCNE1L. The protein contains a single transmembrane domain surrounded by many charge residues and 2 potential N-glycosylation sites. It shares 56% homology with the potassium channel KCNE1 (176261). Northern blot analysis detected expression of a 1.5-kb KCNE1L transcript predominantly in heart, skeletal muscle, brain, spinal cord, and placenta. Piccini et al. (1999) also cloned the mouse homolog and found that it shares 80% identity with the human protein. In situ hybridization studies indicated that mouse Kcne1l is expressed in the migrating neural crest cells of cranial nerves, in the somites, and in the myoepicardial layer of the heart of the developing mouse embryo. Piccini et al. (1999) suggested that the KCNE1L gene may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome.
Meloni et al. (2002) also cloned the KCNE1L gene, which they designated KCNE5.
Piccini et al. (1999) identified the KCNE1L gene within a region of Xq22.3.
Meloni, I., Vitelli, F., Pucci, L., Lowry, R. B., Tonlorenzi, R., Rossi, E., Ventura, M., Rizzoni, G., Kashtan, C. E., Pober, B., Renieri, A. Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). J. Med. Genet. 39: 359-365, 2002. [PubMed: 12011158] [Full Text: https://doi.org/10.1136/jmg.39.5.359]
Piccini, M., Vitelli, F., Seri, M., Galietta, L. J. V., Moran, O., Bulfone, A., Banfi, S., Pober, B., Renieri, A. KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs. Genomics 60: 251-257, 1999. [PubMed: 10493825] [Full Text: https://doi.org/10.1006/geno.1999.5904]