title: DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness.
abstract: We have cloned a human cDNA, DELGEF (deafness locus associated putative guanine nucleotide exchange factor), 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 RCCI for the small GTPase Ran. hDelGEF2 is derived from the same DELGEF gene by alternative splicing. In addition, we have identified a murine homologue, mDelGEF. The ubiquitously expressed soluble protein hDelGEF1 is found both in the cyytoplasm and in the nucleus. Overexpressed hDelGEF2 colocalizes with mitochondria.
authors.affiliation: Division for Molecular Biology of Mitosis, German Cancer Research Center, Heidelberg.
authors.forename: J
authors.initials: J
authors.lastname: Uhlmann
authors.forename: S
authors.initials: S
authors.lastname: Wiemann
authors.forename: H
authors.initials: H
authors.lastname: Ponstingl
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D019556:COS Cells; D018797:Cell Cycle Proteins; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005091:Exons; D005455:Fluorescent Antibody Technique; D005786:Gene Expression Regulation; D020662:Guanine Nucleotide Exchange Factors / Q000737:chemistry / Q000235:genetics*; D006367:HeLa Cells; D006801:Humans; D007438:Introns; D051379:Mice; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D012333:RNA, Messenger / Q000378:metabolism; D016415:Sequence Alignment
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D020662:Guanine Nucleotide Exchange Factors; D009687:Nuclear Proteins; C062521:RCC1 protein, human; D012333:RNA, Messenger; C499302:Rcc1 protein, mouse; C400705:SERGEF protein, human