Seroatlas · Human Serome Atlas

BFSP1

Filensin

Also known as: BFSP1_HUMAN, CP115, CP94, filensin, LIFL-H

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q12934
Gene: BFSP1
Ensembl: ENSG00000125864
Chromosome: 20
Canonical length: 665 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

665 residues, UniProt reviewed canonical sequence.

>Q12934|BFSP1
     1  MYRRSYVFQT RKEQYEHADE ASRAAEPERP ADEGWAGATS LAALQGLGER VAAHVQRARA
    61  LEQRHAGLRR QLDAFQRLGE LAGPEDALAR QVESNRQRVR DLEAERARLE RQGTEAQRAL
   121  DEFRSKYENE CECQLLLKEM LERLNKEADE ALLHNLRLQL EAQFLQDDIS AAKDRHKKNL
   181  LEVQTYISIL QQIIHTTPPA SIVTSGMREE KLLTEREVAA LRSQLEEGRE VLSHLQAQRV
   241  ELQAQTTTLE QAIKSAHECY DDEIQLYNEQ IETLRKEIEE TERVLEKSSY DCRQLAVAQQ
   301  TLKNELDRYH RIIEIEGNRL TSAFIETPIP LFTQSHGVSL STGSGGKDLT RALQDITAAK
   361  PRQKALPKNV PRRKEIITKD KTNGALEDAP LKGLEDTKLV QVVLKEESES KFESESKEVS
   421  PLTQEGAPED VPDGGQISKG FGKLYRKVKE KVRSPKEPET PTELYTKERH VLVTGDANYV
   481  DPRFYVSSIT AKGGVAVSVA EDSVLYDGQV EPSPESPKPP LENGQVGLQE KEDGQPIDQQ
   541  PIDKEIEPDG AELEGPEEKR EGEERDEESR RPCAMVTPGA EEPSIPEPPK PAADQDGAEV
   601  LGTRSRSLPE KGPPKALAYK TVEVVESIEK ISTESIQTYE ETAVIVETMI GKTKSDKKKS
   661  GEKSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BFSP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.61
Highest tissue expression: 5.4 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 5.4 nTPM
kidney: 3.9 nTPM
testis: 3.7 nTPM
basal ganglia: 3.3 nTPM
choroid plexus: 2.8 nTPM
cerebral cortex: 2.7 nTPM

Single-cell type

undifferentiated spermatogonia: 29 nCPM
alveolar cells type 1: 21 nCPM
alveolar cells type 2: 17 nCPM
transitional alveolar cells: 17 nCPM
cardiomyocytes: 13 nCPM
breast myoepithelial cells: 11 nCPM

Immune cell

gdT-cell: 2.5 nTPM
NK-cell: 0.7 nTPM
memory CD4 T-cell: 0.6 nTPM
memory CD8 T-cell: 0.4 nTPM
neutrophil: 0.3 nTPM
naive CD8 T-cell: 0.2 nTPM

Brain region

white matter: 4.3 nTPM
cerebral cortex: 3.7 nTPM
basal ganglia: 3.6 nTPM
hypothalamus: 3.5 nTPM
choroid plexus: 3.3 nTPM
thalamus: 3.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BFSP1.

Disease | AllUniProt

Conditions BFSP1 is implicated in, by any mechanism.

Cataract 33, multiple types (CTRCT33) MIM:611391

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 272 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cataract 33
Developmental cataract

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.12
gnomAD pLI: 0
gnomAD missense Z: 0.27
DepMap mean gene effect: 0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BFSP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BFSP1 as an antibody target. Whether an autoantibody or antibody against BFSP1 could matter depends on whether native BFSP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BFSP1 is annotated at the cell surface, where native BFSP1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label BFSP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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