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Protein

Phakinin

Gene

BFSP2

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

Functioni

Involved in stabilization of lens fiber cell cytoskeleton.By similarity

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

Keywords - Biological processi

Sensory transduction, Vision

Enzyme and pathway databases

BioCyciZFISH:ENSG00000170819-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Phakinin
Alternative name(s):
49 kDa cytoskeletal protein
Beaded filament structural protein 2
Lens fiber cell beaded filament protein CP 47
Short name:
CP47
Lens fiber cell beaded filament protein CP 49
Short name:
CP49
Lens intermediate filament-like light
Short name:
LIFL-L
Gene namesi
Name:BFSP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:1041. 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: HPA
  • intermediate filament Source: ProtInc
  • plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Intermediate filament, Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract 12, multiple types (CTRCT12)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. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset.
See also OMIM:611597
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012163233Missing in CTRCT12. 2 Publications1
Natural variantiVAR_012164287R → W in CTRCT12. 1 PublicationCorresponds to variant rs104893685dbSNPEnsembl.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi8419.
MalaCardsiBFSP2.
MIMi611597. phenotype.
OpenTargetsiENSG00000170819.
Orphaneti98992. Partial congenital cataract.
PharmGKBiPA25344.

Polymorphism and mutation databases

DMDMi17366451.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000638511 – 415PhakininAdd BLAST415

Proteomic databases

MaxQBiQ13515.
PaxDbiQ13515.
PeptideAtlasiQ13515.
PRIDEiQ13515.

PTM databases

iPTMnetiQ13515.
PhosphoSitePlusiQ13515.

Expressioni

Tissue specificityi

Lens.

Gene expression databases

BgeeiENSG00000170819.
CleanExiHS_BFSP2.
GenevisibleiQ13515. HS.

Organism-specific databases

HPAiHPA038464.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
ATF4Q96AQ33EBI-10229433,EBI-740263
MBIPQ9NS73-53EBI-10229433,EBI-10182361
SYCE1Q8N0S25EBI-10229433,EBI-6872807

Protein-protein interaction databases

BioGridi114005. 17 interactors.
IntActiQ13515. 29 interactors.
STRINGi9606.ENSP00000304987.

Structurei

3D structure databases

ProteinModelPortaliQ13515.
SMRiQ13515.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 114HeadAdd BLAST114
Regioni115 – 395RodAdd BLAST281
Regioni396 – 415TailAdd BLAST20

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili115 – 144Sequence analysisAdd BLAST30
Coiled coili199 – 253Sequence analysisAdd BLAST55
Coiled coili309 – 400Sequence analysisAdd BLAST92

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IHF9. Eukaryota.
ENOG410XQY0. LUCA.
GeneTreeiENSGT00760000119046.
HOGENOMiHOG000230975.
HOVERGENiHBG013015.
InParanoidiQ13515.
KOiK10379.
OMAiRMHLESK.
OrthoDBiEOG091G09SM.
PhylomeDBiQ13515.
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]

Sequencei

Sequence statusi: Complete.

Q13515-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSERRVVVDL PTSASSSMPL QRRRASFRGP RSSSSLESPP ASRTNAMSGL
60 70 80 90 100
VRAPGVYVGT APSGCIGGLG ARVTRRALGI SSVFLQGLRS SGLATVPAPG
110 120 130 140 150
LERDHGAVED LGGCLVEYMA KVHALEQVSQ ELETQLRMHL ESKATRSGNW
160 170 180 190 200
GALRASWASS CQQVGEAVLE NARLMLQTET IQAGADDFKE RYENEQPFRK
210 220 230 240 250
AAEEEINSLY KVIDEANLTK MDLESQIESL KEELGSLSRN YEEDVKLLHK
260 270 280 290 300
QLAGCELEQM DAPIGTGLDD ILETIRIQWE RDVEKNRVEA GALLQAKQQA
310 320 330 340 350
EVAHMSQTQE EKLAAALRVE LHNTSCQVQS LQAETESLRA LKRGLENTLH
360 370 380 390 400
DAKHWHDMEL QNLGAVVGRL EAELREIRAE AEQQQQERAH LLARKCQLQK
410
DVASYHALLD REESG
Length:415
Mass (Da):45,880
Last modified:November 1, 1996 - v1
Checksum:i4CB899386D443FEA
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012163233Missing in CTRCT12. 2 Publications1
Natural variantiVAR_012164287R → W in CTRCT12. 1 PublicationCorresponds to variant rs104893685dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U48224 mRNA. Translation: AAC50414.1.
BC113518 mRNA. Translation: AAI13519.1.
BC113520 mRNA. Translation: AAI13521.1.
AF195044 Genomic DNA. Translation: AAG30728.1.
CCDSiCCDS33859.1.
RefSeqiNP_003562.1. NM_003571.3.
XP_016862804.1. XM_017007315.1.
UniGeneiHs.659862.

Genome annotation databases

EnsembliENST00000302334; ENSP00000304987; ENSG00000170819.
GeneIDi8419.
KEGGihsa:8419.
UCSCiuc003epn.3. human.

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U48224 mRNA. Translation: AAC50414.1.
BC113518 mRNA. Translation: AAI13519.1.
BC113520 mRNA. Translation: AAI13521.1.
AF195044 Genomic DNA. Translation: AAG30728.1.
CCDSiCCDS33859.1.
RefSeqiNP_003562.1. NM_003571.3.
XP_016862804.1. XM_017007315.1.
UniGeneiHs.659862.

3D structure databases

ProteinModelPortaliQ13515.
SMRiQ13515.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114005. 17 interactors.
IntActiQ13515. 29 interactors.
STRINGi9606.ENSP00000304987.

PTM databases

iPTMnetiQ13515.
PhosphoSitePlusiQ13515.

Polymorphism and mutation databases

DMDMi17366451.

Proteomic databases

MaxQBiQ13515.
PaxDbiQ13515.
PeptideAtlasiQ13515.
PRIDEiQ13515.

Protocols and materials databases

DNASUi8419.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302334; ENSP00000304987; ENSG00000170819.
GeneIDi8419.
KEGGihsa:8419.
UCSCiuc003epn.3. human.

Organism-specific databases

CTDi8419.
DisGeNETi8419.
GeneCardsiBFSP2.
HGNCiHGNC:1041. BFSP2.
HPAiHPA038464.
MalaCardsiBFSP2.
MIMi603212. gene.
611597. phenotype.
neXtProtiNX_Q13515.
OpenTargetsiENSG00000170819.
Orphaneti98992. Partial congenital cataract.
PharmGKBiPA25344.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHF9. Eukaryota.
ENOG410XQY0. LUCA.
GeneTreeiENSGT00760000119046.
HOGENOMiHOG000230975.
HOVERGENiHBG013015.
InParanoidiQ13515.
KOiK10379.
OMAiRMHLESK.
OrthoDBiEOG091G09SM.
PhylomeDBiQ13515.
TreeFamiTF332742.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000170819-MONOMER.

Miscellaneous databases

GeneWikiiBFSP2.
GenomeRNAii8419.
PROiQ13515.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170819.
CleanExiHS_BFSP2.
GenevisibleiQ13515. HS.

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_HUMAN
AccessioniPrimary (citable) accession number: Q13515
Secondary accession number(s): Q14D32, Q9HBW5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 1, 1996
Last modified: November 30, 2016
This is version 141 of the entry and version 1 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 3
    Human chromosome 3: 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.