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Gene Review:

RABGAP1L - RAB GTPase activating protein 1-like

Homo sapiens

Synonyms: FLJ38519, HHL, KIAA0471, TBC1D18

Westlake, C.J. et al., Sharma, R. et al., de Yebra, L. et al.

de Yebra, Adroer, de Gregorio-Rocasolano, Blesa, Trullas, Mahy,

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Disease relevance of RABGAP1L

Reverse transcription PCR analysis of ESCC and matched normal esophageal tissues provided the first evidence that melanoma metastasis clone D (MEMD), a gene similar to oncostatin M receptor beta, and KIAA0471 gene products are upregulated in ESCCs [1].

High impact information on RABGAP1L

Identification of Rab11 as a small GTPase binding protein for the Evi5 oncogene [2].
Indeed, ablation of Evi5 by RNA interference causes a mislocalization of FIP3 at the abscission site during cytokinesis [2].
Here we describe the identification of Evi5 as a candidate binding protein for Rab11, a GTPase that regulates intracellular transport and has specific roles in endosome recycling and cytokinesis [2].
After studying medial septum and hippocampus brain areas, we found an inhibition of the KIAA0471 gene expression in three out of six AD patients, including one with a presenilin 1 gene mutation [3].

Analytical, diagnostic and therapeutic context of RABGAP1L

By yeast two-hybrid analysis, immunoprecipitation, and Biacore analysis, we demonstrate that Evi5 binds Rab11a and Rab11b in a GTP-dependent manner [2].

References

Transcriptional gene expression profile of human esophageal squamous cell carcinoma. Sharma, R., Samantaray, S., Shukla, N.K., Ralhan, R. Genomics (2003) [Pubmed]
Identification of Rab11 as a small GTPase binding protein for the Evi5 oncogene. Westlake, C.J., Junutula, J.R., Simon, G.C., Pilli, M., Prekeris, R., Scheller, R.H., Jackson, P.K., Eldridge, A.G. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease? de Yebra, L., Adroer, R., de Gregorio-Rocasolano, N., Blesa, R., Trullas, R., Mahy, N. Hum. Mol. Genet. (2004) [Pubmed]

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