| GORAB | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | GORAB, GO, NTKLBP1, SCYL1BP1, golgin, RAB6 interacting | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607983 MGI: 2138271 HomoloGene: 45113 GeneCards: GORAB | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[5]
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.[5]
Clinical significance
Mutations in this gene have been associated with geroderma osteodysplastica.[5]
See also
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000120370 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040124 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 3 "Entrez Gene: Golgin, RAB6-interacting".
Further reading
- Yan J, Di Y, Shi H, Rao H, Huo K (October 2010). "Overexpression of SCYL1-BP1 stabilizes functional p53 by suppressing MDM2-mediated ubiquitination". FEBS Letters. 584 (20): 4319–24. doi:10.1016/j.febslet.2010.09.019. PMC 3789512. PMID 20849854.
- Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S (December 2008). "Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin". Nature Genetics. 40 (12): 1410–2. doi:10.1038/ng.252. PMC 3122266. PMID 18997784.
- Yan J, Zhang D, Di Y, Shi H, Rao H, Huo K (August 2010). "A newly identified Pirh2 substrate SCYL1-BP1 can bind to MDM2 and accelerate MDM2 self-ubiquitination". FEBS Letters. 584 (15): 3275–8. doi:10.1016/j.febslet.2010.06.027. PMC 3798065. PMID 20598683.
- Al-Dosari M, Alkuraya FS (October 2009). "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. doi:10.1002/ajmg.a.32996. PMID 19681135. S2CID 24882708.
- Zhang L, Li J, Wang C, Ma Y, Huo K (April 2005). "A new human gene hNTKL-BP1 interacts with hPirh2". Biochemical and Biophysical Research Communications. 330 (1): 293–7. doi:10.1016/j.bbrc.2005.02.156. PMID 15781263.
- Kim J, Kim YS, Ko J (February 2010). "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. doi:10.1016/j.lfs.2009.11.012. PMID 19951712.
- Di Y, Li J, Fang J, Xu Z, He X, Zhang F, Ling J, Li X, Xu D, Li L, Li YY, Huo K (2003). "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. doi:10.1007/s10038-003-0031-5. PMID 12783284.
External links
- SCYL1BP1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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