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BFSP1

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GENERAL INFORMATION

Gene name

 BFSP1

Gene description

 Beaded filament structural protein 1, filensin

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the plasma membrane & cytosol.

RNA cell category

 Cell line enhanced (RPTEC TERT1)

Protein evidence

 Evidence at protein level

Main location

 Localized to the Plasma membrane (supported), Cytosol (supported)

Single-cell variation

 Single-cell variation in protein expression observed.

DATA RELIABILITY

Reliability score

 Supported based on 2 antibodies.
HPA040748 , HPA042038
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (RPTEC TERT1)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the plasma membrane & cytosol.

Main location

 Plasma membrane (supported), Cytosol (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA040748 U-2 OS Plasma membrane Spatial
Actin filaments Spatial
Mitochondria Spatial
HPA040748 U-251 MG Plasma membrane
Cytosol
HPA042038 A549 Plasma membrane
Cytosol
HPA042038 U-2 OS Plasma membrane
Cytosol
HPA042038 U-251 MG Cytosol

GENE INFORMATION

Gene name

 BFSP1 (HGNC Symbol)

Synonyms

 CP115, CP94, filensin, LIFL-H

Description

 Beaded filament structural protein 1, filensin (HGNC Symbol)

Entrez gene 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]

Chromosome

 20

Cytoband

 p12.1

Chromosome location (bp)

 17493905 - 17569220

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000125864 (version 83.38)

Entrez gene

 631

UniProt

 Q12934 (UniProt - Evidence at protein level)

neXtProt

 NX_Q12934

Antibodypedia

 BFSP1 antibodies

PROTEIN BROWSER
BFSP1-001
BFSP1-002
BFSP1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BFSP1-001
ENSP00000367104
ENST00000377873
Q12934 [Direct mapping]
Filensin
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005212 [structural constituent of eye lens]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005882 [intermediate filament]
GO:0005886 [plasma membrane]
GO:0008150 [biological_process]
GO:0015629 [actin cytoskeleton]
GO:0048469 [cell maturation]
GO:0070307 [lens fiber cell development]
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 665 aa
74.5 kDa 		No 0
BFSP1-002
ENSP00000367099
ENST00000377868
Q12934 [Direct mapping]
Filensin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005886 [plasma membrane]
GO:0008150 [biological_process]
GO:0015629 [actin cytoskeleton]
Show all
 540 aa
60.3 kDa 		No 0
BFSP1-201
ENSP00000442522
ENST00000536626
Q12934 [Direct mapping]
Filensin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005886 [plasma membrane]
GO:0008150 [biological_process]
GO:0015629 [actin cytoskeleton]
Show all
 526 aa
58.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.