BFSP1

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BFSP1
Identifiers
Aliases BFSP1, CP115, CP94, CTRCT33, LIFL-H, beaded filament structural protein 1
External IDs MGI: 101770 HomoloGene: 922 GeneCards: BFSP1
Gene location (Human)
Chromosome 20 (human)
Chr. Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for BFSP1
Genomic location for BFSP1
Band 20p12.1 Start 17,493,905 bp[1]
End 17,569,220 bp[1]
RNA expression pattern
PBB GE BFSP1 206746 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001161705
NM_001195
NM_001278606
NM_001278607
NM_001278608

NM_001291061
NM_009751

RefSeq (protein)

NP_001155177
NP_001186
NP_001265535
NP_001265536
NP_001265537

NP_001277990
NP_033881

Location (UCSC) Chr 20: 17.49 – 17.57 Mb Chr 20: 143.83 – 143.86 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

BFSP1 is a gene that encodes the protein filensin in humans.[5][6]

More than 99% of the vertebrate ocular lens is made up of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, CP49 (also known as phakinin) and the protein product of this gene, filensin (or CP115), are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF).[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000125864 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027420 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Rendtorff ND, Hansen C, Silahtaroglu A, Henriksen KF, Tommerup N (Dec 1998). "Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1". Genomics. 53 (1): 114–6. PMID 9787085. doi:10.1006/geno.1998.5478. 
  6. ^ a b "Entrez Gene: BFSP1 beaded filament structural protein 1, filensin". 

External links[edit]

Further reading[edit]