GORAB

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]

GORAB
Identifiers
Aliases	GORAB, GO, NTKLBP1, SCYL1BP1, golgin, RAB6 interacting
External IDs	OMIM: 607983 MGI: 2138271 HomoloGene: 45113 GeneCards: GORAB
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q24.2 Start 170,532,129 bp[1] End 170,553,446 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 H2.1 Start 163,384,908 bp[2] End 163,403,669 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • Golgi apparatus • nucleolus • cell nucleus • nucleoplasm • cytoplasm • cytosol Biological process • hair follicle morphogenesis • positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning • non-motile cilium assembly Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	92344	98376
Ensembl	ENSG00000120370	ENSMUSG00000040124
UniProt	Q5T7V8	Q8BRM2
RefSeq (mRNA)	NM_001146039 NM_152281 NM_001320252	NM_178883 NM_001313738
RefSeq (protein)	NP_001139511 NP_001307181 NP_689494	NP_001300667 NP_849214
Location (UCSC)	Chr 1: 170.53 – 170.55 Mb	Chr 1: 163.38 – 163.4 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

• Gerodermia osteodysplastica

References

1. GRCh38: Ensembl release 89: ENSG00000120370 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040124 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "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 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.