Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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

Complete GO annotation...

Keywords - Molecular functioni

Eye 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

  • actin cytoskeleton Source: HPA
  • cell cortex Source: UniProtKB-SubCell
  • cytoplasm Source: HPA
  • intermediate filament Source: ProtInc
  • mitochondrion Source: HPA
  • plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Intermediate filament, Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract 33 (CTRCT33)1 Publication
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

Keywords - Diseasei

Cataract

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiBFSP1.
DMDMi17372543.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 665665FilensinPRO_0000063847Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei5 – 51Phosphoserine; by PKASequence analysis

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ12934.
PaxDbiQ12934.
PeptideAtlasiQ12934.
PRIDEiQ12934.

PTM databases

iPTMnetiQ12934.
PhosphoSiteiQ12934.

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

WithEntry#Exp.IntActNotes
NUP62P371983EBI-10227494,EBI-347978

Protein-protein interaction databases

BioGridi107100. 8 interactions.
IntActiQ12934. 1 interaction.
STRINGi9606.ENSP00000367104.

Structurei

3D structure databases

ProteinModelPortaliQ12934.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 4040HeadAdd
BLAST
Regioni41 – 320280RodAdd
BLAST
Regioni41 – 7535Coil 1AAdd
BLAST
Regioni76 – 849Linker 1
Regioni85 – 184100Coil 1BAdd
BLAST
Regioni185 – 20117Linker 12Add
BLAST
Regioni202 – 320119Coil 2Add
BLAST
Regioni321 – 665345TailAdd
BLAST

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

InterProiIPR001664. IF.
[Graphical view]
PfamiPF00038. Filament. 1 hit.
[Graphical view]
SMARTiSM01391. Filament. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti96 – 961R → P in AAG17186 (PubMed:10909854).Curated
Sequence conflicti176 – 1772HK → TR in AAA74423 (PubMed:7720401).Curated
Sequence conflicti248 – 2481T → A in AAA74423 (PubMed:7720401).Curated
Sequence conflicti398 – 3981K → R in AAB94939 (PubMed:9628810).Curated
Sequence conflicti568 – 5681E → G in AAB94939 (PubMed:9628810).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti345 – 3451G → S.
Corresponds to variant rs6080719 [ dbSNP | Ensembl ].
VAR_024492
Natural varianti656 – 6561D → E.
Corresponds to variant rs16999317 [ dbSNP | Ensembl ].
VAR_036683

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 139139Missing in isoform 3. CuratedVSP_055064Add
BLAST
Alternative sequencei1 – 125125Missing in isoform 2. 1 PublicationVSP_024921Add
BLAST
Alternative sequencei126 – 1261K → M in isoform 2. 1 PublicationVSP_024922

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ12934.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107100. 8 interactions.
IntActiQ12934. 1 interaction.
STRINGi9606.ENSP00000367104.

PTM databases

iPTMnetiQ12934.
PhosphoSiteiQ12934.

Polymorphism and mutation databases

BioMutaiBFSP1.
DMDMi17372543.

Proteomic databases

EPDiQ12934.
PaxDbiQ12934.
PeptideAtlasiQ12934.
PRIDEiQ12934.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi631.
GeneCardsiBFSP1.
HGNCiHGNC:1040. BFSP1.
HPAiHPA040748.
HPA042038.
MalaCardsiBFSP1.
MIMi603307. gene.
611391. phenotype.
neXtProtiNX_Q12934.
Orphaneti217046. Autosomal recessive childhood-onset cortical cataract.
PharmGKBiPA25343.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GeneWikiiBFSP1.
GenomeRNAii631.
PROiQ12934.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125864.
CleanExiHS_BFSP1.
GenevisibleiQ12934. HS.

Family and domain databases

InterProiIPR001664. IF.
[Graphical view]
PfamiPF00038. Filament. 1 hit.
[Graphical view]
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBFSP1_HUMAN
AccessioniPrimary (citable) accession number: Q12934
Secondary accession number(s): F5H0G1
, O43595, O76034, O95676, Q8IVZ6, Q9HBX4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 26, 2001
Last modified: September 7, 2016
This is version 146 of the entry and version 3 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.