BFSP1
Identifiers
AliasesBFSP1, CP115, CP94, CTRCT33, LIFL-H, beaded filament structural protein 1
External IDsOMIM: 603307 MGI: 101770 HomoloGene: 922 GeneCards: BFSP1
Orthologs
SpeciesHumanMouse
Entrez

631

12075

Ensembl

ENSG00000125864

ENSMUSG00000027420

UniProt

Q12934

A2AMT1

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 MbChr 2: 143.67 – 143.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

BFSP1 is a gene that encodes the protein filensin ("beaded filament structural protein 1") 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 proteins, phakinin (also known as CP49) 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]

The two BFSP proteins are put into a "type VI" of intermediate filament (IF) classification. Unlike other IFs that form unbranched links, the two proteins form a network of filaments together with CRYAA.[7][8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000125864 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027420 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Rendtorff ND, Hansen C, Silahtaroglu A, Henriksen KF, Tommerup N (October 1998). "Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1". Genomics. 53 (1): 114–116. doi:10.1006/geno.1998.5478. PMID 9787085.
  6. 1 2 "Entrez Gene: BFSP1 beaded filament structural protein 1, filensin".
  7. Chaves JM, Gupta R, Srivastava K, Srivastava O (December 2017). "Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin". Biochemical and Biophysical Research Communications. 494 (1–2): 402–408. doi:10.1016/j.bbrc.2017.09.088. PMID 28935373.
  8. Szeverenyi I, Cassidy AJ, Chung CW, Lee BT, Common JE, Ogg SC, Chen H, Sim SY, Goh WL, Ng KW, Simpson JA, Chee LL, Eng GH, Li B, Lunny DP, Chuon D, Venkatesh A, Khoo KH, McLean WH, Lim YP, Lane EB. "Human Intermediate Filament Database". PMID 18033728.

Further reading


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