| Loss of RAB6-interacting golgin (GORAB) causes impairment of coat protein complex I (COPI)-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. | GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.
Witkos TM, Chan WL, Joensuu M, Rhiel M, Pallister E, Thomas-Oates J, Mould AP, Mironov AA, Biot C, Guerardel Y, Morelle W, Ungar D, Wieland FT, Jokitalo E, Tassabehji M, Kornak U, Lowe M., Free PMC Article | 02/23/2019 |
| Novel compound heterozygous nonsense mutations were identified in the GORAB gene of a geroderma osteodysplastica patient. | Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.
Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H. | 03/31/2018 |
| in the present study a de novo deletion on 1q23.3-q24.2 combined with a GORAB missense mutation leads to a distinctive phenotype with features from Gerodermia osteodysplastica and also short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability | A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.
Al-Bughaili M, Neuhann TM, Flöttmann R, Mundlos S, Spielmann M, Kornak U, Fischer-Zirnsak B. | 05/27/2017 |
| SCYL1- BP1 affects the cell cycle through increasing steady state levels of Cyclin F and RRM2 proteins, thus constituting a dual regulatory circuit | SCYL1-BP1 affects cell cycle arrest in human hepatocellular carcinoma cells via Cyclin F and RRM2.
Wang Y, Zhi Q, Ye Q, Zhou C, Zhang L, Yan W, Wu Q, Zhang D, Li P, Huo K. | 11/5/2016 |
| rs17684886 (ZNRF1) and rs599019 (COLEC12) are associated with diabetic retinopathy and rs6427247 (SCYL1BP1) and rs899036 (API5) are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes | Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes.
Peng D, Wang J, Zhang R, Jiang F, Tang S, Chen M, Yan J, Sun X, Wang S, Wang T, Yan D, Bao Y, Hu C, Jia W. | 03/12/2016 |
| SCYL1-BP1 plays a critical role in the regulation of EEA1, BMPR2 and BRCA2 expression. | Transcriptional profiling and dynamical regulation analysis identify potential kernel target genes of SCYL1-BP1 in HEK293T cells.
Wang Y, Chen X, Chen X, Chen Q, Huo K., Free PMC Article | 07/4/2015 |
| SCYL1BP1 can promote the degradation of MDM2 protein and further inhibit the G1/S transition of lung SCC lines. Reintroduction of SCYL1BP1 into lung SCC lines significantly inhibited cell proliferation, migration, invasion and tumor formation. | SCYL1BP1 has tumor-suppressive functions in human lung squamous carcinoma cells by regulating degradation of MDM2.
Yang ZP, Xie YH, Ling DY, Li JR, Jiang J, Fan YH, Zheng JL, Wu WX. | 06/6/2015 |
| Data suggest that SCYL1-BP1 is a novel regulator of the MDM2-p53 feedback loop and that it may be a potential tumor suppressor. | Overexpression of SCYL1-BP1 stabilizes functional p53 by suppressing MDM2-mediated ubiquitination.
Yan J, Di Y, Shi H, Rao H, Huo K., Free PMC Article | 11/27/2010 |
| The chemotaxis signal pathway induced by chemokines CKbeta8 and CKbeta8-1 is mediated via the Gi/Go protein, phospholipase C (PLC) and protein kinase C delta (PKC delta). | CK beta 8/CCL23 induces cell migration via the Gi/Go protein/PLC/PKC delta/NF-kappa B and is involved in inflammatory responses.
Kim J, Kim YS, Ko J. | 03/22/2010 |
| study supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of geroderma osteodysplastica | A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.
Al-Dosari M, Alkuraya FS. | 02/22/2010 |
| Study demonstrates that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. | Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
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., Free PMC Article | 01/21/2010 |
| assessment of interaction with hPirh2 | A new human gene hNTKL-BP1 interacts with hPirh2.
Zhang L, Li J, Wang C, Ma Y, Huo K. | 01/21/2010 |