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Protein

Phakinin

Gene

Bfsp2

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

Functioni

Involved in stabilization of lens fiber cell cytoskeleton.1 Publication

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

GO - Molecular functioni

  • structural constituent of eye lens Source: MGI

GO - Biological processi

Keywordsi

Molecular functionEye lens protein
Biological processSensory 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 9

Organism-specific databases

MGIiMGI:1333828 Bfsp2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Intermediate filament, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000638521 – 416PhakininAdd BLAST416

Proteomic databases

PaxDbiQ6NVD9
PRIDEiQ6NVD9

PTM databases

iPTMnetiQ6NVD9
PhosphoSitePlusiQ6NVD9

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSMUSG00000032556 Expressed in 56 organ(s), highest expression level in lens of camera-type eye
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 interactor
STRINGi10090.ENSMUSP00000116249

Structurei

3D structure databases

ProteinModelPortaliQ6NVD9
SMRiQ6NVD9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini105 – 416IF rodPROSITE-ProRule annotationAdd BLAST312

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 115HeadAdd BLAST115
Regioni397 – 416TailAdd BLAST20

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili116 – 146Sequence analysisAdd BLAST31
Coiled coili170 – 249Sequence analysisAdd BLAST80
Coiled coili308 – 402Sequence analysisAdd BLAST95

Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IHF9 Eukaryota
ENOG410XQY0 LUCA
GeneTreeiENSGT00910000144173
HOGENOMiHOG000230975
HOVERGENiHBG013015
InParanoidiQ6NVD9
KOiK10379
OMAiVKVLYKQ
OrthoDBiEOG091G09SM
PhylomeDBiQ6NVD9
TreeFamiTF332742

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR039008 IF_rod_dom
IPR002957 Keratin_I
IPR027694 Phakinin
PANTHERiPTHR23239 PTHR23239, 1 hit
PTHR23239:SF32 PTHR23239:SF32, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PRINTSiPR01248 TYPE1KERATIN
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS51842 IF_ROD_2, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti353A → T in AAB25419 (PubMed:7679620).Curated1

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)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0111111 – 264Missing in isoform 2. 1 PublicationAdd BLAST264

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

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi223747, 1 interactor
STRINGi10090.ENSMUSP00000116249

PTM databases

iPTMnetiQ6NVD9
PhosphoSitePlusiQ6NVD9

Proteomic databases

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
GeneTreeiENSGT00910000144173
HOGENOMiHOG000230975
HOVERGENiHBG013015
InParanoidiQ6NVD9
KOiK10379
OMAiVKVLYKQ
OrthoDBiEOG091G09SM
PhylomeDBiQ6NVD9
TreeFamiTF332742

Miscellaneous databases

ChiTaRSiBfsp2 mouse
PROiPR:Q6NVD9
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000032556 Expressed in 56 organ(s), highest expression level in lens of camera-type eye
CleanExiMM_BFSP2
GenevisibleiQ6NVD9 MM

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR039008 IF_rod_dom
IPR002957 Keratin_I
IPR027694 Phakinin
PANTHERiPTHR23239 PTHR23239, 1 hit
PTHR23239:SF32 PTHR23239:SF32, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PRINTSiPR01248 TYPE1KERATIN
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS51842 IF_ROD_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBFSP2_MOUSE
AccessioniPrimary (citable) accession number: Q6NVD9
Secondary accession number(s): Q63832, Q6P5N4, Q8VDD6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 107 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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