학술논문
DelGEF, an RCC1‐related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness
Document Type
Article
Source
FEBS Letters; October 1999, Vol. 460 Issue: 1 p153-160, 8p
Subject
Language
ISSN
00145793
Abstract
We have cloned a human cDNA, DELGEF(afness ocus associated putative uanine nucleotide xchange actor), derived from a 225 kb genomic sequence of chromosome 11p14, critical for the Usher 1C syndrome and for DFNB18, a locus for non‐syndromic sensorineural deafness. The amino acid sequence of the protein hDelGEF1 is homologous to the nucleotide exchange factor RCC1 for the small GTPase Ran. hDelGEF2 is derived from the same DELGEFgene by alternative splicing. In addition, we have identified a murine homologue, mDelGEF. The ubiquitously expressed soluble protein hDelGEF1 is found both in the cytoplasm and in the nucleus. Overexpressed hDelGEF2 colocalizes with mitochondria.