BFSP1

Last updated
BFSP1
Identifiers
Aliases BFSP1 , CP115, CP94, CTRCT33, LIFL-H, beaded filament structural protein 1
External IDs OMIM: 603307 MGI: 101770 HomoloGene: 922 GeneCards: BFSP1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001161705
NM_001195
NM_001278606
NM_001278607
NM_001278608

Contents

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 2: 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 ("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]

Related Research Articles

Cytoskeleton Network of filamentous proteins that forms the internal framework of cells

The cytoskeleton is a complex, dynamic network of interlinking protein filaments present in the cytoplasm of all cells, including bacteria and archaea. It extends from the cell nucleus to the cell membrane and is composed of similar proteins in the various organisms. In eukaryotes, it is composed of three main components, microfilaments, intermediate filaments and microtubules, and these are all capable of rapid growth or disassembly dependent on the cell's requirements.

Intermediate filament

Intermediate filaments (IFs) are cytoskeletal structural components found in the cells of vertebrates, and many invertebrates. Homologues of the IF protein have been noted in an invertebrate, the cephalochordate Branchiostoma.

Vimentin Type III intermediate filament protein

Vimentin is a structural protein that in humans is encoded by the VIM gene. Its name comes from the Latin vimentum which refers to an array of flexible rods.

Peripherin

Peripherin is a type III intermediate filament protein expressed mainly in neurons of the peripheral nervous system. It is also found in neurons of the central nervous system that have projections toward peripheral structures, such as spinal motor neurons. Its size, structure, and sequence/location of protein motifs is similar to other type III intermediate filament proteins such as desmin, vimentin and glial fibrillary acidic protein. Like these proteins, peripherin can self-assemble to form homopolymeric filamentous networks, but it can also heteropolymerize with neurofilaments in several neuronal types. This protein in humans is encoded by the PRPH gene. Peripherin is thought to play a role in neurite elongation during development and axonal regeneration after injury, but its exact function is unknown. It is also associated with some of the major neuropathologies that characterize amyotropic lateral sclerosis (ALS), but despite extensive research into how neurofilaments and peripherin contribute to ALS, their role in this disease is still unidentified.

Glial fibrillary acidic protein Type III intermediate filament protein

Glial fibrillary acidic protein (GFAP) is a protein that is encoded by the GFAP gene in humans. It is a type III intermediate filament (IF) protein that is expressed by numerous cell types of the central nervous system (CNS), including astrocytes and ependymal cells during development. GFAP has also been found to be expressed in glomeruli and peritubular fibroblasts taken from rat kidneys, Leydig cells of the testis in both hamsters and humans, human keratinocytes, human osteocytes and chondrocytes and stellate cells of the pancreas and liver in rats.

Keratin 8

Keratin, type II cytoskeletal 8 also known as cytokeratin-8 (CK-8) or keratin-8 (K8) is a keratin protein that is encoded in humans by the KRT8 gene. It is often paired with keratin 18.

Synemin

Synemin, also known as desmuslin, is a protein that in humans is encoded by the SYNM gene. Synemin is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle.

Crystallin, gamma D

Gamma-crystallin D is a protein that in humans is encoded by the CRYGD gene.

<i>MIP</i> (gene)

Lens fiber major intrinsic protein is a protein that in humans is encoded by the MIP gene.

CRYBB2

Beta-crystallin B2 is a protein that in humans is encoded by the CRYBB2 gene.

CRYGC

Crystallin, gamma C, also known as CRYGC, is a protein which in humans is encoded by the CRYGC gene.

Periplakin

Periplakin is a protein that in humans is encoded by the PPL gene.

CRYBB1

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.

CRYGB

Gamma-crystallin B is a protein that in humans is encoded by the CRYGB gene.

Crystallin, beta A1

Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 gene.

Envoplakin

Envoplakin is a protein that in humans is encoded by the EVPL gene.

CRYBA4

Beta-crystallin A4 is a protein that in humans is encoded by the CRYBA4 gene.

BFSP2

BFSP2 is a gene that encodes the protein phakinin in humans.

LIM2

Lens fiber membrane intrinsic protein is a protein that in humans is encoded by the LIM2 gene.

Lamin B1

Lamin-B1 is a protein that in humans is encoded by the LMNB1 gene.

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 (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. 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 (9 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