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BFSP1

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

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Tissue enhanced (endometrium)

Protein evidence

 Evidence at protein level

Protein expression

 Expression in lens.

DATA RELIABILITY

Data reliability
description

 No internal RNA expression data available for correlation. External characterization data supports antibody staining but no internal RNA data available for correlation.

Reliability score

 Supported based on 2 antibodies.
HPA040748 , HPA042038
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Eye
N/A
Eye
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Eye

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (endometrium)

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.