Identity
HGNC
LOCATION
1q24.2
LOCUSID
ALIAS
GO,NTKLBP1,SCYL1BP1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 92344
MIM: 607983
HGNC: 25676
Ensembl: ENSG00000120370
Variants:
dbSNP: 92344
ClinVar: 92344
TCGA: ENSG00000120370
COSMIC: GORAB
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000120370 | ENST00000367762 | Q5T7V8 |
| ENSG00000120370 | ENST00000367763 | Q5T7V8 |
| ENSG00000120370 | ENST00000498166 | R4GMT2 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| p53 signaling pathway | KEGG | ko04115 |
| p53 signaling pathway | KEGG | hsa04115 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30631079 | 2019 | GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation. | 24 |
| 30631079 | 2019 | GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation. | 24 |
| 27604556 | 2017 | A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. | 4 |
| 28807865 | 2017 | Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. | 3 |
| 27604556 | 2017 | A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. | 4 |
| 28807865 | 2017 | Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. | 3 |
| 25980818 | 2016 | SCYL1-BP1 affects cell cycle arrest in human hepatocellular carcinoma cells via Cyclin F and RRM2. | 6 |
| 25980818 | 2016 | SCYL1-BP1 affects cell cycle arrest in human hepatocellular carcinoma cells via Cyclin F and RRM2. | 6 |
| 25819896 | 2015 | Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes. | 18 |
| 25819896 | 2015 | Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes. | 18 |
| 25227860 | 2014 | SCYL1BP1 has tumor-suppressive functions in human lung squamous carcinoma cells by regulating degradation of MDM2. | 4 |
| 25234469 | 2014 | Transcriptional profiling and dynamical regulation analysis identify potential kernel target genes of SCYL1-BP1 in HEK293T cells. | 2 |
| 25227860 | 2014 | SCYL1BP1 has tumor-suppressive functions in human lung squamous carcinoma cells by regulating degradation of MDM2. | 4 |
| 25234469 | 2014 | Transcriptional profiling and dynamical regulation analysis identify potential kernel target genes of SCYL1-BP1 in HEK293T cells. | 2 |
| 19951712 | 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. | 16 |
Citation
Dessen P
GORAB (golgin, RAB6 interacting)
Atlas Genet Cytogenet Oncol Haematol. 2010-12-01
Online version: http://atlasgeneticsoncology.org/gene/51778/gorab
