BFSP1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

External data suggests expression in lens. RNA-based expert annotation could not be performed.

ANTIBODY RELIABILITY

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Data reliability
description

No internal RNA expression data available for correlation. Presumed off target binding observed and disregarded. Pending retesting.

Data reliability

Uncertain based on 2 antibodies.
HPA040748 , HPA042038
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

631

UniProt

Q12934 (UniProt - Evidence at protein level)

neXtProt

NX_Q12934

Antibodypedia

BFSP1 antibodies


PROTEIN BROWSER

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ENST00000377868
 
ENST00000377873
 
ENST00000536626
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BFSP1-001 ENSP00000367104
ENST00000377873
Q12934
Show all »
Show » Show » 665 74.5 No 0
BFSP1-002 ENSP00000367099
ENST00000377868
Q12934
Show all »
Show » Show » 540 60.3 No 0
BFSP1-201 ENSP00000442522
ENST00000536626
Q12934
Show all »
Show » Show » 526 58.6 No 0