Protein detail

BFSP1

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]

Entry name BFSP1	UniProt ID Q12934	EVMP confidence score 0.50
Supporting publications (n) 1	Transmembrane count	Protein classification Disease related genesHuman disease related genesPredicted intracellular proteins

EVMP confidence score

Annotation confidence score; open for threshold definitions.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information11

Protein Names

Protein Class (3)

Disease related genesHuman disease related genesPredicted intracellular proteins

Protein Function (3)

Disease related genes
Predicted intracellular proteins
Human disease related genes:Nervous system diseases:Eye disease

Ensembl

ENSG00000125864

Entrez Gene Symbol

BFSP1

Gene Synonym (4)

CP115CP94filensinLIFL-H

Gene Description

Beaded filament structural protein 1

Chromosome

Position

17493905-17569220

Supporting publications (n)

EVMP confidence score

0.50

Fluorescence & Localization1

Function & Pathway5

Protein Function (3)

Disease related genes
Predicted intracellular proteins
Human disease related genes:Nervous system diseases:Eye disease

Cellular Component (4)

Molecular Function (3)

Biological Process (3)

Mediation Categories

Fusion and delivery mediation

Relations & Evidence9

Ligand-Receptor Signaling (7)

7 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
intracellular	intracellular	LOCATE	No	No	No	No	No
intracellular	intracellular	ComPPI	No	No	No	No	No
intracellular	intracellular	GO_Intercell	No	No	No	No	No
intracellular	intracellular	UniProt_location	No	No	No	No	No
intracellular	intracellular	OmniPath	No	No	No	No	No
plasma_membrane	plasma_membrane	UniProt_location	No	No	No	No	No
plasma_membrane	plasma_membrane	OmniPath	No	No	No	No	No

Protein Complex Composition (1)

1 record.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
	BFSP1 BMERB1	Q12934 Q96MC5	0:0	hu.MAP2

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential Ultracentrifugation	Mass spectrometryWestern blotting	5	36406491 38225453 40829696 32795414 38731868

Sequence, Structure & Domains10

Sequences

Length

665

Mass

74,544

Sequence

MYRRSYVFQTRKEQYEHADEASRAAEPERPADEGWAGATSLAALQGLGERVAAHVQRARALEQRHAGLRRQLDAFQRLGELAGPEDALARQVESNRQRVRDLEAERARLERQGTEAQRALDEFRSKYENECECQLLLKEMLERLNKEADEALLHNLRLQLEAQFLQDDISAAKDRHKKNLLEVQTYISILQQIIHTTPPASIVTSGMREEKLLTEREVAALRSQLEEGREVLSHLQAQRVELQAQTTTLEQAIKSAHECYDDEIQLYNEQIETLRKEIEETERVLEKSSYDCRQLAVAQQTLKNELDRYHRIIEIEGNRLTSAFIETPIPLFTQSHGVSLSTGSGGKDLTRALQDITAAKPRQKALPKNVPRRKEIITKDKTNGALEDAPLKGLEDTKLVQVVLKEESESKFESESKEVSPLTQEGAPEDVPDGGQISKGFGKLYRKVKEKVRSPKEPETPTELYTKERHVLVTGDANYVDPRFYVSSITAKGGVAVSVAEDSVLYDGQVEPSPESPKPPLENGQVGLQEKEDGQPIDQQPIDKEIEPDGAELEGPEEKREGEERDEESRRPCAMVTPGAEEPSIPEPPKPAADQDGAEVLGTRSRSLPEKGPPKALAYKTVEVVESIEKISTESIQTYEETAVIVETMIGKTKSDKKKSGEKSS

Alternative Products

Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q12934-1; Sequence=Displayed; Name=2; IsoId=Q12934-2; Sequence=VSP_024921, VSP_024922; Name=3; IsoId=Q12934-3; Sequence=VSP_055064

Alternative Sequence

1..139; Missing (in isoform 3); 1..125; Missing (in isoform 2); 126; K -> M (in isoform 2)

Domain & Motif Annotations

Compositional Bias

556..571; Basic and acidic residues

Domain (FT)

40..320; IF rod

Region

1..40; Head; 41..75; Coil 1A; 76..84; Linker 1; 85..184; Coil 1B; 185..201; Linker 12; 202..320; Coil 2; 321..665; Tail; 410..439; Disordered; 506..614; Disordered

Protein Families

Intermediate filament family

Sequence Similarities

Belongs to the intermediate filament family.

Clinical Relevance6

Disease Involvement

Cataract

Drugs

COMPOUND 111 [PMID: 37918435]

Antibody (2)

HPA040748 HPA042038

Interaction Protein

ENSG00000170819

Interaction Count

Interaction Dataset

biogrid_bioplex

Supporting Publications1

PMID	Title	Abstract
12973033	Exosomes as a tumor vaccine: enhancing potency through direct loading of antigenic peptides.	Exosomes secreted by dendritic cells (DCs) contain MHC-I, MHC-II, and other accessory molecules required for antigen presentation to T cells. However, analysis of peptide binding was not performed to link T-cell-stimulating activity with the amount of MHC-I/peptide complexes on the exosomes. In the presence of antigen-presenting cells (APC), exosomes directly loaded with the HLA-A2 restricted MART1 tumor peptide stimulated an HLA-A2/MART1 specific T-cell line. MHC-II molecules, which are abundantly expressed on DC exosomes, were also functionally loaded under the same conditions as MHC-I. Previous studies have shown that exosome MHC-I "indirectly" loaded by adding peptides to DC cultures are immunogenic. The T cells responded to exosomes using HLA-A2neg APC, demonstrating transfer of functional MHC-I/peptide complexes and not peptide alone to APC. The optimized loading conditions and the ability to transfer both MHC-I and MHC-II antigens to APC have led to the development of exosomes as an "acellular" immunotherapy approach currently being tested in clinical trials. We demonstrate that MHC-I on purified exosomes can be directly loaded with peptide at much greater levels than indirect loading.