Identity
HGNC
LOCATION
22q13.33
LOCUSID
ALIAS
CMT4B3,DENND7A,MTMR5
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: 6305
MIM: 603560
HGNC: 10542
Ensembl: ENSG00000100241
Variants:
dbSNP: 6305
ClinVar: 6305
TCGA: ENSG00000100241
COSMIC: SBF1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100241 | ENST00000348911 | O95248 |
| ENSG00000100241 | ENST00000380817 | O95248 |
| ENSG00000100241 | ENST00000418590 | H0Y5W8 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Vesicle-mediated transport | REACTOME | R-HSA-5653656 |
| Membrane Trafficking | REACTOME | R-HSA-199991 |
| RAB GEFs exchange GTP for GDP on RABs | REACTOME | R-HSA-8876198 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36104480 | 2022 | A (GCC) repeat in SBF1 reveals a novel biological phenomenon in human and links to late onset neurocognitive disorder. | 2 |
| 36104480 | 2022 | A (GCC) repeat in SBF1 reveals a novel biological phenomenon in human and links to late onset neurocognitive disorder. | 2 |
| 32444983 | 2020 | A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres. | 2 |
| 32444983 | 2020 | A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres. | 2 |
| 30039846 | 2018 | Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease. | 5 |
| 30039846 | 2018 | Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease. | 5 |
| 28005197 | 2017 | SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. | 6 |
| 28005197 | 2017 | SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. | 6 |
| 24817947 | 2014 | DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines. | 5 |
| 24817947 | 2014 | DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines. | 5 |
| 23749797 | 2013 | SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. | 23 |
| 23749797 | 2013 | SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. | 23 |
| 19851296 | 2010 | Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. | 7 |
| 20198315 | 2010 | Association of genetic variants with hemorrhagic stroke in Japanese individuals. | 17 |
| 19851296 | 2010 | Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. | 7 |
Citation
Dessen P
SBF1 (SET binding factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/42208/sbf1
