Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | BFSP1 | contributors: mct/npt - updated : 26-10-2018 |
HGNC name | beaded filament structural protein 1, filensin |
HGNC id | 1040 |
|
Corresponding disease |
| ||
Location | 20p12.1 Physical location : 17.474.550 - 17.539.605 | ||
Synonym name | |||
| |||
| |||
Synonym symbol(s) | LIFRH, FLS, LIFLH, RP4-531H16.2, CP115, CP94, FILENSIN, CP95 |
DNA |
TYPE | functioning gene |
STRUCTURE | 75.32 kb 8 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
---|
regulatory sequence | Promoter |
text structure | two highly conserved sequences that corresponded in their spacing to the putative enhancer regions |
MAPPING | cloned | Y | linked | N | status | confirmed |
Map | pter - D20S904 - D20S104 - D20S875 - D20S118 - D20S48 - [D20S112 - D20S114 ] - D20S182 - cen |
Authors | Rendtorff (98) |
Text | [BFSP1 ] |
RNA |
TRANSCRIPTS | type | messenger |
---|
EXPRESSION |
Type | restricted |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||
organ(s) |
|
tissue |
|
cells |
|
cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
physiological period | embryo |
Text | during the formation of the eyes |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| |
| |
|
HOMOLOGY |
Homologene |
FAMILY |
CATEGORY | structural protein |
SUBCELLULAR LOCALIZATION | plasma membrane |
intracellular | |
intracellular,cytoplasm,cytoskeleton,intermed filament |
basic FUNCTION | |
| |
| |
| |
|
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | ARCC3 |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |