GORAB
| Golgin, RAB6-interacting | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | GORAB ; GO; NTKLBP1; SCYL1BP1 | ||||||||||
| External IDs | OMIM: 607983 HomoloGene: 45113 GeneCards: GORAB Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 92344 | 98376 | |||||||||
| Ensembl | ENSG00000120370 | ENSMUSG00000040124 | |||||||||
| UniProt | Q5T7V8 | Q8BRM2 | |||||||||
| RefSeq (mRNA) | NM_001146039 | NM_178883 | |||||||||
| RefSeq (protein) | NP_001139511 | NP_849214 | |||||||||
| Location (UCSC) |
Chr 1: 170.53 – 170.55 Mb |
Chr 1: 163.38 – 163.4 Mb | |||||||||
| PubMed search | |||||||||||
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.[1]
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.[1]
Clinical significance
Mutations in this gene have been associated with geroderma osteodysplastica.[1]
See also
References
Further Reading
- Yan, J.; Di, Y.; Shi, H.; Rao, H.; Huo, K. (2010). "Overexpression of SCYL1-BP1 stabilizes functional p53 by suppressing MDM2-mediated ubiquitination". FEBS Letters 584 (20): 4319–4324. doi:10.1016/j.febslet.2010.09.019. PMC 3789512. PMID 20849854.
- Hennies, H. C.; Kornak, U.; Zhang, H.; Egerer, J.; Zhang, X.; Seifert, W.; Kühnisch, J.; Budde, B.; Nätebus, M.; Brancati, F.; Wilcox, W. R.; Müller, D.; Kaplan, P. B.; Rajab, A.; Zampino, G.; Fodale, V.; Dallapiccola, B.; Newman, W.; Metcalfe, K.; Clayton-Smith, J.; Tassabehji, M.; Steinmann, B.; Barr, F. A.; Nürnberg, P.; Wieacker, P.; Mundlos, S. (2008). "Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin". Nature Genetics 40 (12): 1410–1412. doi:10.1038/ng.252. PMC 3122266. PMID 18997784.
- Yan, J.; Zhang, D.; Di, Y.; Shi, H.; Rao, H.; Huo, K. (2010). "A newly identified Pirh2 substrate SCYL1-BP1 can bind to MDM2 and accelerate MDM2 self-ubiquitination". FEBS Letters 584 (15): 3275–3278. doi:10.1016/j.febslet.2010.06.027. PMC 3798065. PMID 20598683.
- Al-Dosari, M.; Alkuraya, F. S. (2009). "A novel missense mutation inSCYL1BP1produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations". American Journal of Medical Genetics Part A 149A (10): 2093–2098. doi:10.1002/ajmg.a.32996. PMID 19681135.
- Zhang, L.; Li, J.; Wang, C.; Ma, Y.; Huo, K. (2005). "A new human gene hNTKL-BP1 interacts with hPirh2". Biochemical and Biophysical Research Communications 330 (1): 293–297. doi:10.1016/j.bbrc.2005.02.156. PMID 15781263.
- Kim, J.; Kim, Y. S.; Ko, J. (2010). "CKβ8/CCL23 induces cell migration via the Gi/Go protein/PLC/PKCδ/NF-κB and is involved in inflammatory responses". Life Sciences 86 (9–10): 300–308. 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, Y. Y.; 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): 315–321. 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.
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