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

Phakinin

Gene

Bfsp2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in stabilization of lens fiber cell cytoskeleton.1 Publication

GO - Molecular functioni

  • structural constituent of eye lens Source: MGI

GO - Biological processi

  • cell maturation Source: MGI
  • cytoskeleton organization Source: MGI
  • intermediate filament cytoskeleton organization Source: MGI
  • lens fiber cell development Source: MGI
  • response to stimulus Source: UniProtKB-KW
  • visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Eye lens protein

Keywords - Biological processi

Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Phakinin1 Publication
Alternative name(s):
49 kDa cytoskeletal protein
Beaded filament structural protein 2
Lens fiber cell beaded filament protein CP 49
Short name:
CP491 Publication
Gene namesi
Name:Bfsp2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 9

Organism-specific databases

MGIiMGI:1333828. Bfsp2.

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
  • cytoplasm Source: MGI
  • intermediate filament Source: MGI
  • plasma membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Intermediate filament, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 416416PhakininPRO_0000063852Add
BLAST

Proteomic databases

MaxQBiQ6NVD9.
PaxDbiQ6NVD9.
PRIDEiQ6NVD9.

PTM databases

iPTMnetiQ6NVD9.
PhosphoSiteiQ6NVD9.

Expressioni

Tissue specificityi

Detected in eye lens fiber cells (at protein level) (PubMed:21745462). Lens (PubMed:7679620).2 Publications

Gene expression databases

BgeeiENSMUSG00000032556.
CleanExiMM_BFSP2.
GenevisibleiQ6NVD9. MM.

Interactioni

Subunit structurei

Associates with BFSP1 (By similarity). Interacts with LGSN (PubMed:18178558). Identified in complexes that contain VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (PubMed:21745462).By similarity2 Publications

Protein-protein interaction databases

BioGridi223747. 1 interaction.
STRINGi10090.ENSMUSP00000116249.

Structurei

3D structure databases

ProteinModelPortaliQ6NVD9.
SMRiQ6NVD9. Positions 327-411.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 115115HeadAdd
BLAST
Regioni116 – 396281RodAdd
BLAST
Regioni397 – 41620TailAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili116 – 14631Sequence analysisAdd
BLAST
Coiled coili170 – 24980Sequence analysisAdd
BLAST
Coiled coili308 – 40295Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the intermediate filament family.Sequence analysis

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IHF9. Eukaryota.
ENOG410XQY0. LUCA.
GeneTreeiENSGT00760000119046.
HOGENOMiHOG000230975.
HOVERGENiHBG013015.
InParanoidiQ6NVD9.
KOiK10379.
OMAiRMHLESK.
OrthoDBiEOG091G09SM.
PhylomeDBiQ6NVD9.
TreeFamiTF332742.

Family and domain databases

InterProiIPR001664. IF.
IPR002957. Keratin_I.
IPR027694. Phakinin.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF32. PTHR23239:SF32. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01248. TYPE1KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6NVD9-1) [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
MSKRRVAADL PSGTNSSMPV QRHRVSSLRG THSPSSLDSP PASRTSAVGS
60 70 80 90 100
LVRAPGVYVG VAPSGGIGGL GARVTRRALG ISSVFLQGLR SSGLANVPAP
110 120 130 140 150
GPERDHTTVE DLGGCLVEYM TKVHALEQVS QELETQLRAH LESKAKSSGG
160 170 180 190 200
WDALRASWAS SYQQVGEAVL ENARLLLQME TIQAGADDFK ERYENEQPFR
210 220 230 240 250
KAAEEEVSSL YKVIDEANLT KTDLEHQIES LKEELGFLSR SYEEDVKVLY
260 270 280 290 300
KQLAGSELEQ ADVPMGTGLD DVLETIRVQW ERDVEKNRAE AGALLQAKQQ
310 320 330 340 350
TEVVHVSQTQ EEKLAAALSV ELHDTSRQVQ SLQAETESLR ALKRGLENSL
360 370 380 390 400
HDAQHWHDME LQNLGAVVGR LEAELAEIRS ETEQQQQERA HLLACKSQLQ
410
KDVASYHALL DREENN
Length:416
Mass (Da):45,740
Last modified:July 5, 2004 - v1
Checksum:i3D86718F47F8C47E
GO
Isoform 2 (identifier: Q6NVD9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-264: Missing.

Note: No experimental confirmation available.
Show »
Length:152
Mass (Da):17,197
Checksum:i7E9B8B24B41F76B7
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti353 – 3531A → T in AAB25419 (PubMed:7679620).Curated

Polymorphismi

In strains 101, 129/SvJ and CBA, a polymorphism deletes the acceptor site of exon 2 which causes exon 1 to be spliced to exon 3 and generates a frameshift and premature stop codon.1 Publication

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 264264Missing in isoform 2. 1 PublicationVSP_011111Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC062815 mRNA. Translation: AAH62815.1.
BC068172 mRNA. Translation: AAH68172.1.
AJ304861 Genomic DNA. Translation: CAC83162.1.
S55549 mRNA. Translation: AAB25419.1.
CCDSiCCDS52903.1. [Q6NVD9-1]
PIRiI52911.
RefSeqiNP_001002896.1. NM_001002896.2. [Q6NVD9-1]
UniGeneiMm.335403.

Genome annotation databases

EnsembliENSMUST00000124310; ENSMUSP00000116249; ENSMUSG00000032556. [Q6NVD9-1]
GeneIDi107993.
KEGGimmu:107993.
UCSCiuc009rgu.1. mouse. [Q6NVD9-2]
uc009rgv.1. mouse. [Q6NVD9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC062815 mRNA. Translation: AAH62815.1.
BC068172 mRNA. Translation: AAH68172.1.
AJ304861 Genomic DNA. Translation: CAC83162.1.
S55549 mRNA. Translation: AAB25419.1.
CCDSiCCDS52903.1. [Q6NVD9-1]
PIRiI52911.
RefSeqiNP_001002896.1. NM_001002896.2. [Q6NVD9-1]
UniGeneiMm.335403.

3D structure databases

ProteinModelPortaliQ6NVD9.
SMRiQ6NVD9. Positions 327-411.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi223747. 1 interaction.
STRINGi10090.ENSMUSP00000116249.

PTM databases

iPTMnetiQ6NVD9.
PhosphoSiteiQ6NVD9.

Proteomic databases

MaxQBiQ6NVD9.
PaxDbiQ6NVD9.
PRIDEiQ6NVD9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000124310; ENSMUSP00000116249; ENSMUSG00000032556. [Q6NVD9-1]
GeneIDi107993.
KEGGimmu:107993.
UCSCiuc009rgu.1. mouse. [Q6NVD9-2]
uc009rgv.1. mouse. [Q6NVD9-1]

Organism-specific databases

CTDi8419.
MGIiMGI:1333828. Bfsp2.

Phylogenomic databases

eggNOGiENOG410IHF9. Eukaryota.
ENOG410XQY0. LUCA.
GeneTreeiENSGT00760000119046.
HOGENOMiHOG000230975.
HOVERGENiHBG013015.
InParanoidiQ6NVD9.
KOiK10379.
OMAiRMHLESK.
OrthoDBiEOG091G09SM.
PhylomeDBiQ6NVD9.
TreeFamiTF332742.

Miscellaneous databases

PROiQ6NVD9.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000032556.
CleanExiMM_BFSP2.
GenevisibleiQ6NVD9. MM.

Family and domain databases

InterProiIPR001664. IF.
IPR002957. Keratin_I.
IPR027694. Phakinin.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF32. PTHR23239:SF32. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01248. TYPE1KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBFSP2_MOUSE
AccessioniPrimary (citable) accession number: Q6NVD9
Secondary accession number(s): Q63832, Q6P5N4, Q8VDD6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 5, 2004
Last modified: September 7, 2016
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Miscellaneous

Knockout of the protein does not result in cataract formation but causes deterioration of light scatter and lens optical properties and changes organization of plasma membrane.1 Publication

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.