BFSP1 (beaded filament structural protein 1)

Gene

• Entrez ID: 631
• Gene name: Beaded filament structural protein 1
• Gene symbol: BFSP1
• Synonyms (NCBI Gene): CP115, CP94, CTRCT33, LIFL-H
• Chromosome: 20
• Chromosome location: 20p12.1
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34147780	A>-,AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs147718368	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307126	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1085307127	T>C	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051941	hsa-let-7b-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9628810
GO:0005212	Function	Structural constituent of eye lens	IBA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	ISS
GO:0005882	Component	Intermediate filament	TAS	9628810
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005938	Component	Cell cortex	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0016020	Component	Membrane	IEA
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045109	Process	Intermediate filament organization	ISS
GO:0048469	Process	Cell maturation	IEA
GO:0070307	Process	Lens fiber cell development	IBA
GO:0070307	Process	Lens fiber cell development	IEA

Other IDs

• MIM: 603307
• HGNC: 1040
• e!Ensembl: ENSG00000125864

Protein

• UniProt ID: Q12934
• Protein name: Filensin (Beaded filament structural protein 1) (Lens fiber cell beaded-filament structural protein CP 115) (CP115) (Lens intermediate filament-like heavy) (LIFL-H) [Cleaved into: Filensin C-terminal fragment; Filensin N-terminal fragment]
• Protein function: Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Involved in altering the calcium regulation of MIP water permeability (PubMed:30790544). {ECO:0000269|Pu
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00038	Filament	41 → 199	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the cortex and nucleus of the retina lens (at protein level). {ECO:0000269|PubMed:30790544, ECO:0000269|PubMed:7720401}.
• Sequence:

  MYRRSYVFQTRKEQYEHADEASRAAEPERPADEGWAGATSLAALQGLGERVAAHVQRARA
  LEQRHAGLRRQLDAFQRLGELAGPEDALARQVESNRQRVRDLEAERARLERQGTEAQRAL
  DEFRSKYENECECQLLLKEMLERLNKEADEALLHNLRLQLEAQFLQDDISAAKDRHKKNL
  LEVQTYISILQQIIHTTPPASIVTSGMREEKLLTEREVAALRSQLEEGREVLSHLQAQRV
  ELQAQTTTLEQAIKSAHECYDDEIQLYNEQIETLRKEIEETERVLEKSSYDCRQLAVAQQ
  TLKNELDRYHRIIEIEGNRLTSAFIETPIPLFTQSHGVSLSTGSGGKDLTRALQDITAAK
  PRQKALPKNVPRRKEIITKDKTNGALEDAPLKGLEDTKLVQVVLKEESESKFESESKEVS
  PLTQEGAPEDVPDGGQISKGFGKLYRKVKEKVRSPKEPETPTELYTKERHVLVTGDANYV
  DPRFYVSSITAKGGVAVSVAEDSVLYDGQVEPSPESPKPPLENGQVGLQEKEDGQPIDQQ
  PIDKEIEPDGAELEGPEEKREGEERDEESRRPCAMVTPGAEEPSIPEPPKPAADQDGAEV
  LGTRSRSLPEKGPPKALAYKTVEVVESIEKISTESIQTYEETAVIVETMIGKTKSDKKKS
  GEKSS

• Sequence length: 665

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cataract 33	Likely pathogenic; Pathogenic	rs2123536475, rs2033726928, rs1085307126, rs1085307127, rs1246080692	RCV001377232 RCV003045980 RCV000488438 RCV000488441 RCV001040490
Developmental cataract	Likely pathogenic	rs2123446094	RCV001775013

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs34147780	-
BFSP1-related disorder	Benign; Likely benign; Uncertain significance	rs6080718, rs147241220, rs752857487, rs147718368, rs895975320, rs150736032, rs780034931, rs767136257, rs561046384, rs549462369, rs534991481, rs35042144, rs145703098, rs202146533, rs142996076, rs142092768	RCV003948511 RCV003936603 RCV003963416 RCV004757177 RCV003928963 RCV003902256 RCV003906949 RCV003913813 RCV003931480 RCV003914597 RCV003934421 RCV004757248 RCV003935511 RCV003915616 RCV003928375 RCV003955672
Congenital ocular coloboma	Benign; Uncertain significance	rs548358901, rs557601555	RCV000059341 RCV000059342
Malignant lymphoma, large B-cell, diffuse	Benign	rs6136118	RCV005892463
Malignant tumor of urinary bladder	Benign; Likely benign	rs142996076	RCV005907022
Melanoma	Conflicting classifications of pathogenicity	rs140135049	RCV005923927
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs140135049	RCV005923928

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Associate	33407546, 33540684
Cataract	Associate	24319337, 26694549, 28450710, 31842807, 36161833
Neoplastic Syndromes Hereditary	Associate	31842807