BFSP1 (beaded filament structural protein 1)

2014-11-01  

Identity

HGNC
LOCATION
20p12.1
LOCUSID
ALIAS
CP115,CP94,CTRCT33,LIFL-H

Other Information

Locus ID:

NCBI: 631
MIM: 603307
HGNC: 1040
Ensembl: ENSG00000125864

Variants:

dbSNP: 631
ClinVar: 631
TCGA: ENSG00000125864
COSMIC: BFSP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125864ENST00000377868Q12934
ENSG00000125864ENST00000377873Q12934
ENSG00000125864ENST00000536626Q12934

Expression (GTEx)

0
1
2
3
4
5
6

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
172251352007Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.59
243796462013A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.10
243193372013Molecular and structural analysis of genetic variations in congenital cataract.7
289353732017Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin.0

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