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: 631
MIM: 603307
HGNC: 1040
Ensembl: ENSG00000125864
Variants:
dbSNP: 631
ClinVar: 631
TCGA: ENSG00000125864
COSMIC: BFSP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000125864 | ENST00000377868 | Q12934 |
| ENSG00000125864 | ENST00000377873 | Q12934 |
| ENSG00000125864 | ENST00000536626 | Q12934 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37371051 | 2023 | Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix. | 0 |
| 37371051 | 2023 | Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix. | 0 |
| 28935373 | 2017 | Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin. | 0 |
| 28935373 | 2017 | Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin. | 0 |
| 24319337 | 2013 | Molecular and structural analysis of genetic variations in congenital cataract. | 12 |
| 24379646 | 2013 | A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. | 16 |
| 24319337 | 2013 | Molecular and structural analysis of genetic variations in congenital cataract. | 12 |
| 24379646 | 2013 | A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. | 16 |
| 17225135 | 2007 | Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. | 68 |
| 17225135 | 2007 | Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. | 68 |
Citation
Dessen P
BFSP1 (beaded filament structural protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60746/bfsp1-(beaded-filament-structural-protein-1)
