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Protein

Filensin

Gene

BFSP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • structural constituent of cytoskeleton Source: ProtInc
  • structural constituent of eye lens Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionEye lens protein

Names & Taxonomyi

Protein namesi
Recommended name:
Filensin
Alternative name(s):
Beaded filament structural protein 1
Lens fiber cell beaded-filament structural protein CP 115
Short name:
CP115
Lens intermediate filament-like heavy
Short name:
LIFL-H
Gene namesi
Name:BFSP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:1040. BFSP1.

Subcellular locationi

  • Cell membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
  • Cytoplasmcytoskeleton By similarity
  • Cytoplasmcell cortex By similarity

  • Note: Detected adjacent to the cell membrane.By similarity

GO - Cellular componenti

  • cell cortex Source: UniProtKB-SubCell
  • intermediate filament Source: ProtInc
  • plasma membrane Source: UniProtKB-SubCell

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Intermediate filament, Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract 33, multiple types (CTRCT33)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus.
See also OMIM:611391
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078861348D → N in CTRCT33. 1 Publication1

Keywords - Diseasei

Cataract

Organism-specific databases

DisGeNETi631.
MalaCardsiBFSP1.
ENSG00000283253.
MIMi611391. phenotype.
OpenTargetsiENSG00000125864.
Orphaneti217046. Autosomal recessive childhood-onset cortical cataract.
PharmGKBiPA25343.

Polymorphism and mutation databases

BioMutaiBFSP1.
DMDMi17372543.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000638471 – 665FilensinAdd BLAST665

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei5Phosphoserine; by PKASequence analysis1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ12934.
PaxDbiQ12934.
PeptideAtlasiQ12934.
PRIDEiQ12934.

PTM databases

iPTMnetiQ12934.
PhosphoSitePlusiQ12934.

Expressioni

Tissue specificityi

Lens.

Gene expression databases

BgeeiENSG00000125864.
CleanExiHS_BFSP1.
GenevisibleiQ12934. HS.

Organism-specific databases

HPAiHPA040748.
HPA042038.

Interactioni

Subunit structurei

Associates with BFSP2 to form long fibrils (By similarity). Identified in complexes that contain VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity).By similarity

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi107100. 36 interactors.
IntActiQ12934. 9 interactors.
STRINGi9606.ENSP00000367104.

Structurei

3D structure databases

ProteinModelPortaliQ12934.
SMRiQ12934.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 40HeadAdd BLAST40
Regioni41 – 320RodAdd BLAST280
Regioni41 – 75Coil 1AAdd BLAST35
Regioni76 – 84Linker 19
Regioni85 – 184Coil 1BAdd BLAST100
Regioni185 – 201Linker 12Add BLAST17
Regioni202 – 320Coil 2Add BLAST119
Regioni321 – 665TailAdd BLAST345

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IHW9. Eukaryota.
ENOG410ZJHK. LUCA.
GeneTreeiENSGT00390000016976.
HOGENOMiHOG000095201.
HOVERGENiHBG050684.
InParanoidiQ12934.
KOiK10378.
OMAiDLYTKGR.
OrthoDBiEOG091G044T.
PhylomeDBiQ12934.
TreeFamiTF331671.

Family and domain databases

InterProiView protein in InterPro
IPR001664. IF.
PfamiView protein in Pfam
PF00038. Filament. 1 hit.
SMARTiView protein in SMART
SM01391. Filament. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q12934-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MYRRSYVFQT RKEQYEHADE ASRAAEPERP ADEGWAGATS LAALQGLGER
60 70 80 90 100
VAAHVQRARA LEQRHAGLRR QLDAFQRLGE LAGPEDALAR QVESNRQRVR
110 120 130 140 150
DLEAERARLE RQGTEAQRAL DEFRSKYENE CECQLLLKEM LERLNKEADE
160 170 180 190 200
ALLHNLRLQL EAQFLQDDIS AAKDRHKKNL LEVQTYISIL QQIIHTTPPA
210 220 230 240 250
SIVTSGMREE KLLTEREVAA LRSQLEEGRE VLSHLQAQRV ELQAQTTTLE
260 270 280 290 300
QAIKSAHECY DDEIQLYNEQ IETLRKEIEE TERVLEKSSY DCRQLAVAQQ
310 320 330 340 350
TLKNELDRYH RIIEIEGNRL TSAFIETPIP LFTQSHGVSL STGSGGKDLT
360 370 380 390 400
RALQDITAAK PRQKALPKNV PRRKEIITKD KTNGALEDAP LKGLEDTKLV
410 420 430 440 450
QVVLKEESES KFESESKEVS PLTQEGAPED VPDGGQISKG FGKLYRKVKE
460 470 480 490 500
KVRSPKEPET PTELYTKERH VLVTGDANYV DPRFYVSSIT AKGGVAVSVA
510 520 530 540 550
EDSVLYDGQV EPSPESPKPP LENGQVGLQE KEDGQPIDQQ PIDKEIEPDG
560 570 580 590 600
AELEGPEEKR EGEERDEESR RPCAMVTPGA EEPSIPEPPK PAADQDGAEV
610 620 630 640 650
LGTRSRSLPE KGPPKALAYK TVEVVESIEK ISTESIQTYE ETAVIVETMI
660
GKTKSDKKKS GEKSS
Length:665
Mass (Da):74,544
Last modified:September 26, 2001 - v3
Checksum:iA99FE174A8B63E9C
GO
Isoform 2 (identifier: Q12934-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-125: Missing.
     126-126: K → M

Note: No experimental confirmation available.
Show »
Length:540
Mass (Da):60,296
Checksum:iFB65B543A8A2A41B
GO
Isoform 3 (identifier: Q12934-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-139: Missing.

Note: No experimental confirmation available.
Show »
Length:526
Mass (Da):58,569
Checksum:iA992AA17D2E02034
GO

Sequence cautioni

The sequence CAA76349 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti96R → P in AAG17186 (PubMed:10909854).Curated1
Sequence conflicti176 – 177HK → TR in AAA74423 (PubMed:7720401).Curated2
Sequence conflicti248T → A in AAA74423 (PubMed:7720401).Curated1
Sequence conflicti398K → R in AAB94939 (PubMed:9628810).Curated1
Sequence conflicti568E → G in AAB94939 (PubMed:9628810).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024492345G → S. Corresponds to variant dbSNP:rs6080719Ensembl.1
Natural variantiVAR_078861348D → N in CTRCT33. 1 Publication1
Natural variantiVAR_036683656D → E. Corresponds to variant dbSNP:rs16999317Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0550641 – 139Missing in isoform 3. CuratedAdd BLAST139
Alternative sequenceiVSP_0249211 – 125Missing in isoform 2. 1 PublicationAdd BLAST125
Alternative sequenceiVSP_024922126K → M in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039655 mRNA. Translation: AAB94939.1.
Y16717 mRNA. Translation: CAA76348.1.
Y16718
, Y16719, Y16720, Y16722, Y16723, Y16721 Genomic DNA. Translation: CAA76349.1. Sequence problems.
AL031664 Genomic DNA. Translation: CAB89430.1.
AL031664, AL132765 Genomic DNA. Translation: CAI21689.1.
AL132765, AL031664 Genomic DNA. Translation: CAH74032.1.
BC041483 mRNA. Translation: AAH41483.1.
U12622 mRNA. Translation: AAA74423.1.
AH009849 Genomic DNA. Translation: AAG17186.1.
CCDSiCCDS13126.1. [Q12934-1]
CCDS54448.1. [Q12934-2]
CCDS63229.1. [Q12934-3]
PIRiI38730.
RefSeqiNP_001155177.1. NM_001161705.1. [Q12934-2]
NP_001186.1. NM_001195.4. [Q12934-1]
NP_001265535.1. NM_001278606.1. [Q12934-3]
NP_001265536.1. NM_001278607.1.
NP_001265537.1. NM_001278608.1. [Q12934-3]
UniGeneiHs.129702.

Genome annotation databases

EnsembliENST00000377868; ENSP00000367099; ENSG00000125864. [Q12934-2]
ENST00000377873; ENSP00000367104; ENSG00000125864. [Q12934-1]
ENST00000536626; ENSP00000442522; ENSG00000125864. [Q12934-3]
GeneIDi631.
KEGGihsa:631.
UCSCiuc002wpo.4. human. [Q12934-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBFSP1_HUMAN
AccessioniPrimary (citable) accession number: Q12934
Secondary accession number(s): F5H0G1
, O43595, O76034, O95676, Q8IVZ6, Q9HBX4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 26, 2001
Last modified: August 30, 2017
This is version 154 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families