Biology:GORAB

Generic protein structure example

RAB6-interacting golgin also known as N-terminal kinase-like-binding protein 1 (NTKL-BP1) or SCY1-like 1-binding protein 1 (SCYL1-BP1) is a protein that in humans is encoded by the GORAB gene.

Function

This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi apparatus. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis.

Clinical significance

Mutations in this gene have been associated with geroderma osteodysplastica.

See also

• Gerodermia osteodysplastica

Further reading

• "Overexpression of SCYL1-BP1 stabilizes functional p53 by suppressing MDM2-mediated ubiquitination". FEBS Letters 584 (20): 4319–24. October 2010. doi:10.1016/j.febslet.2010.09.019. PMID 20849854. 
• "Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin". Nature Genetics 40 (12): 1410–2. December 2008. doi:10.1038/ng.252. PMID 18997784. 
• "A newly identified Pirh2 substrate SCYL1-BP1 can bind to MDM2 and accelerate MDM2 self-ubiquitination". FEBS Letters 584 (15): 3275–8. August 2010. doi:10.1016/j.febslet.2010.06.027. PMID 20598683. 
• "A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations". American Journal of Medical Genetics. Part A 149A (10): 2093–8. October 2009. doi:10.1002/ajmg.a.32996. PMID 19681135. 
• "A new human gene hNTKL-BP1 interacts with hPirh2". Biochemical and Biophysical Research Communications 330 (1): 293–7. April 2005. doi:10.1016/j.bbrc.2005.02.156. PMID 15781263. 
• "CK beta 8/CCL23 induces cell migration via the Gi/Go protein/PLC/PKC delta/NF-kappa B and is involved in inflammatory responses". Life Sciences 86 (9–10): 300–8. February 2010. doi:10.1016/j.lfs.2009.11.012. PMID 19951712. 
• "Cloning and characterization of a novel gene which encodes a protein interacting with the mitosis-associated kinase-like protein NTKL". Journal of Human Genetics 48 (6): 315–21. 2003. doi:10.1007/s10038-003-0031-5. PMID 12783284. 

External links

• SCYL1BP1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.