Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bfsp1 | Rat | cataract 33 | | ISO | BFSP1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
|
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bfsp1 | Rat | cataract 33 | | ISO | BFSP1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | cDNA sequence analysis of CP94: rat lens fiber cell beaded-filament structural protein shows homology to cytokeratins. | Masaki S and Watanabe T, Biochem Biophys Res Commun 1992 Jul 15;186(1):190-8. |
4. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
5. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
7. | GOA pipeline | RGD automated data pipeline |
8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12835653 | PMID:15037121 | PMID:18178558 | PMID:18326727 | PMID:18449355 |
Bfsp1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BFSP1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bfsp1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bfsp1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BFSP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BFSP1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bfsp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BFSP1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BFSP1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bfsp1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Bfsp1
268 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D3Rat8 |
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
9 | 11 | 49 | 113 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
Ensembl Acc Id: | ENSRNOT00000007727 ⟹ ENSRNOP00000007727 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_031555 ⟹ NP_113743 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006235117 ⟹ XP_006235179 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_113743 | (Get FASTA) | NCBI Sequence Viewer |
XP_006235179 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAA19737 | (Get FASTA) | NCBI Sequence Viewer |
EDL95183 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000007727.4 | ||
GenBank Protein | Q02435 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_113743 ⟸ NM_031555 |
- UniProtKB: | F1M8F1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006235179 ⟸ XM_006235117 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A6K736 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000007727 ⟸ ENSRNOT00000007727 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q02435-F1-model_v2 | AlphaFold | Q02435 | 1-617 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:2205 | AgrOrtholog |
BioCyc Gene | G2FUF-47623 | BioCyc |
Ensembl Genes | ENSRNOG00000005707 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000007727.6 | UniProtKB/TrEMBL |
Gene3D-CATH | 1.20.5.170 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Vasodilator-stimulated phosphoprotein | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | BFSP1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IF_rod_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:25394 | UniProtKB/Swiss-Prot |
NCBI Gene | 25394 | ENTREZGENE |
PANTHER | FILENSIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR14069 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Filament | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Bfsp1 | PhenoGen |
PROSITE | IF_ROD_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000005707 | RatGTEx |
SMART | Filament | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A6K736 | ENTREZGENE, UniProtKB/TrEMBL |
BFSP1_RAT | UniProtKB/Swiss-Prot | |
F1M8F1 | ENTREZGENE, UniProtKB/TrEMBL | |
Q02435 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-16 | Bfsp1 | beaded filament structural protein 1 | Bfsp1 | beaded filament structural protein 1, filensin | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2013-01-29 | Bfsp1 | beaded filament structural protein 1, filensin | Bfsp1 | beaded filament structural protein 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2009-11-05 | Bfsp1 | beaded filament structural protein 1 | Bfsp1 | beaded filament structural protein 1, filensin | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-05-20 | Bfsp1 | beaded filament structural protein 1, filensin | Bfsp1 | beaded filament structural protein 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2001-07-23 | Bfsp1 | Filensin | Name withdrawn | 67952 | WITHDRAWN | ||
2001-07-23 | Bfsp1 | beaded filament structural protein 1, filensin | Name updated to reflect Human and Mouse nomenclature | 67952 | APPROVED |
Note Type | Note | Reference |
---|---|---|
gene_expression | expressed only in the lens | 631858 |
gene_homology | demonstrates significant homology with cytokeratins | 631858 |
gene_protein | 94kDa | 631858 |