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; OMA:BFSP1 - orthologs
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: 143.67 – 143.71 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

<span class="mw-page-title-main">Intermediate filament</span> Cytoskeletal structure

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.

<span class="mw-page-title-main">Desmin</span> Mammalian protein found in humans

Desmin is a protein that in humans is encoded by the DES gene. Desmin is a muscle-specific, type III intermediate filament that integrates the sarcolemma, Z disk, and nuclear membrane in sarcomeres and regulates sarcomere architecture.

<span class="mw-page-title-main">Vimentin</span> 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.

<span class="mw-page-title-main">Peripherin</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">Plectin</span> Mammalian protein found in Homo sapiens

Plectin is a giant protein found in nearly all mammalian cells which acts as a link between the three main components of the cytoskeleton: actin microfilaments, microtubules and intermediate filaments. In addition, plectin links the cytoskeleton to junctions found in the plasma membrane that structurally connect different cells. By holding these different networks together, plectin plays an important role in maintaining the mechanical integrity and viscoelastic properties of tissues.

<span class="mw-page-title-main">Nestin (protein)</span> Protein-coding gene in the species Homo sapiens

Nestin is a protein that in humans is encoded by the NES gene.

<span class="mw-page-title-main">Keratin 8</span>

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.

<span class="mw-page-title-main">Synemin</span> Protein found in humans

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.

<span class="mw-page-title-main">Crystallin, gamma D</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">Lens fiber major intrinsic protein</span>

Lens fiber major intrinsic protein also known as aquaporin-0 is a protein that in humans is encoded by the MIP gene.

<span class="mw-page-title-main">CRYGC</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">Periplakin</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">MAF (gene)</span> Protein-coding gene in the species Homo sapiens

Transcription factor Maf, also known as proto-oncogene c-Maf or V-maf musculoaponeurotic fibrosarcoma oncogene homolog, is a transcription factor that in humans is encoded by the MAF gene.

<span class="mw-page-title-main">CRYBB1</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">Crystallin, beta A1</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">BFSP2</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">CRYGA</span> Protein-coding gene in the species Homo sapiens

Gamma-crystallin A is a protein that in humans is encoded by the CRYGA gene.

<span class="mw-page-title-main">LIM2</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">SOX1</span> Transcription factor gene of the SOX family

SOX1 is a gene that encodes a transcription factor with a HMG-box DNA-binding domain and functions primarily in neurogenesis. SOX1, SOX2 and SOX3, members of the SOX gene family, contain transcription factors related to SRY, the testis-determining factor.

<span class="mw-page-title-main">IFFO1</span> Protein-coding gene in the species Homo sapiens

Intermediate filament family orphan 1 is a protein that in humans is encoded by the IFFO1 gene. IFFO1 has uncharacterized function and a weight of 61.98 kDa. IFFO1 proteins play an important role in the cytoskeleton and the nuclear envelope of most eukaryotic cell types.

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