BFSP1 - beaded filament structural protein 1 Gene

Also Known as CP94; CP115; LIFL-H; CTRCT33

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 631

About BFSP1

Cytogenetic location: 20p12.1 Genomic coordinates (GRCh38): 20:17,493,905-17,569,220 (from NCBI)

This gene has 5 transcripts (splice variants), 201 orthologues and is associated with 4 phenotypes. Broad expression in testis (RPKM 2.0), thyroid (RPKM 0.9) and 20 other tissues.

Summary

This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

BFSP1 Products (5)

mRNA Protein Name
NM_001161705.2 NP_001155177.1 filensin isoform 2
NM_001195.5 NP_001186.1 filensin isoform 1
NM_001278606.2 NP_001265535.1 filensin isoform 3
NM_001278607.2 NP_001265536.1 filensin isoform 4
NM_001278608.2 NP_001265537.1 filensin isoform 3

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BFSP1 Protein Structure

Filament

Filament: Intermediate filament protein (43 - 188)

  • 0
  • 200
  • 400
  • 600
  • 665 a.a.
Protein Preferred Names Protein Names

filensin

  • beaded filament structural protein 1, filensin

BFSP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BFSP1 Q12934 NUP62 Homo sapiens P37198
Y2H Prey Pooling
25416956
Intra
BFSP1 Q12934 NUP62 Homo sapiens P37198
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cataract 33, Multiple Types

  • CTRCT33

  • Cortical Cataract 33

  • Cortical Juvenile-Onset Cataract

  • Cataract, Cortical, Juvenile-Onset

  • Cataract 33
Cataract 33

  • Cortical Cataract 33

  • Ctrct33

  • Cataract, Type 33
Early-Onset Nuclear Cataract
Cataract

  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities
Nodular Basal Cell Carcinoma

  • Basal Cell Carcinoma, Nodular

  • Circumscribed Solid Basal Cell Carcinoma

  • Skin Nodulo-Ulcerative Basal Cell Carcinoma

  • Skin Solid Basal Cell Carcinoma

  • Skin Nodular Basal Cell Carcinoma

  • Skin Nodular Solid Basal Cell Carcinoma

  • Nodulo-Ulcerative Basal Cell Carcinoma

  • Circumscribed Solid Basal Cell Carcinoma Of Skin
Senile Cataract
Presbyopia

  • Subnormal Accommodation

  • Accommodation Insufficiency Of Old Age
Mature Cataract

  • Total Or Mature Cataract

  • Total, Mature Senile Cataract
Eye Accommodation Disease
Nance-Horan Syndrome

  • NHS

  • Cataract-Dental Syndrome

  • Cataract, X-Linked, With Hutchinsonian Teeth

  • Mesiodens-Cataract Syndrome

  • Cataract X-Linked With Hutchinsonian Teeth

  • Cataract Dental Syndrome

  • Mesiodens Cataract Syndrome
Deprivation Amblyopia

  • Disuse Amblyopia

  • Stimulus Deprivation Amblyopia
Galactosemia Ii

  • Galactokinase Deficiency

  • Galk Deficiency

  • Galactokinase Deficiency With Cataracts

  • Deficiency Of Galactokinase

  • GALAC2

  • Galk-D

  • Galactokinase Deficiency Galactosemia

  • Galactosemia 2

  • Galactosemia Type 2

  • Hereditary Galactokinase Deficiency

  • Galactokinase Deficiency, Cataract

  • Galactosemias

  • Galk - [Galactokinase Deficiency]
Borst-Jadassohn Intraepidermal Carcinoma

  • Intraepidermal Epithelioma Of Jadassohn

  • Bowen'S Disease, Clonal
Lens Subluxation

  • Subluxation Of Lens
Amblyopia

  • Lazy Eye
Lens Disease

  • Lens Diseases
Anterior Segment Dysgenesis

  • Anterior Segment Developmental Anomaly

  • Anterior Segment Mesenchymal Dysgenesis

  • Corneal Opacification And Other Ocular Anomalies

  • Sclerocornea With Other Ocular Anomalies

  • Asmd

  • Asod

  • Anterior Segment Ocular Dysgenesis

  • Foxe3-Related Ocular Disorder

  • Familial Ocular Anterior Segment Mesenchymal Dysgenesis

  • Dysgenesis, Anterior Segment

  • Irido-Corneal Dysgenesis

  • Axenfeld-Rieger Syndrome, Type 3
Aniridia 1

  • Aniridia

  • Congenital Aniridia

  • AN1

  • An

  • Cataract With Late-Onset Corneal Dystrophy

  • Aplasia Of Iris

  • Absent Iris

  • Irideremia

  • Aniridia Ii, Formerly

  • An2, Formerly

  • An2

  • Aniridia Type Ii

  • Aniridia, Type 1

  • An-1

  • Absence Of Iris

  • Agenesis Of Iris

  • Congenital Absence Of Iris

  • Hereditary Aniridia

  • Sporadic Aniridia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01486 BFSP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus BFSP1 MGD MGI:101770
Rattus norvegicus BFSP1 RGD RGD:2205
Felis catus BFSP1 VGNC VGNC:60107
Canis familiaris BFSP1 VGNC VGNC:38440
Macaca mulatta BFSP1 VGNC VGNC:70244
Bos taurus BFSP1 VGNC VGNC:26478
Others BFSP1 NCBI