DelGEF, an RCC1‐related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness

FEBS Letters

Wiemann, Stefan²  Ponstingl, Herwig¹  Uhlmann, Jörg¹ 

[1] Division for Molecular Biology of Mitosis, German Cancer Research Center, Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany;Division of Molecular Genome Analysis, German Cancer Research Center, Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany

关键词: RCC1-like protein;    Guanine exchange factor (GEF);    Rpgr;    Herc2p;    Alternative splicing;    Mitochondrion;   

DOI  :  10.1016/S0014-5793(99)01333-2

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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 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 cytoplasm and in the nucleus. Overexpressed hDelGEF2 colocalizes with mitochondria.

【 授权许可】

Unknown