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Protein

Phakinin

Gene

BFSP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionEye lens protein
Biological processSensory transduction, Vision

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

EuPathDBiHostDB:ENSG00000170819.4
HGNCiHGNC:1041 BFSP2
MIMi603212 gene
neXtProtiNX_Q13515

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

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 dbSNP:rs104893685EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi8419
MalaCardsiBFSP2
MIMi611597 phenotype
OpenTargetsiENSG00000170819
Orphaneti441452 Early-onset lamellar cataract
98985 Early-onset sutural cataract
98984 Pulverulent cataract
PharmGKBiPA25344

Polymorphism and mutation databases

DMDMi17366451

PTM / Processingi

Molecule processing

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

Proteomic databases

EPDiQ13515
MaxQBiQ13515
PaxDbiQ13515
PeptideAtlasiQ13515
PRIDEiQ13515
ProteomicsDBi59513

PTM databases

iPTMnetiQ13515
PhosphoSitePlusiQ13515

Expressioni

Tissue specificityi

Lens.

Gene expression databases

BgeeiENSG00000170819 Expressed in 54 organ(s), highest expression level in lens of camera-type eye
CleanExiHS_BFSP2
GenevisibleiQ13515 HS

Organism-specific databases

HPAiHPA038464
HPA062959

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

Protein-protein interaction databases

BioGridi114005, 18 interactors
IntActiQ13515, 57 interactors
STRINGi9606.ENSP00000304987

Structurei

3D structure databases

ProteinModelPortaliQ13515
SMRiQ13515
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini104 – 415IF rodPROSITE-ProRule annotationAdd BLAST312

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 114HeadAdd BLAST114
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.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IHF9 Eukaryota
ENOG410XQY0 LUCA
GeneTreeiENSGT00910000144173
HOGENOMiHOG000230975
HOVERGENiHBG013015
InParanoidiQ13515
KOiK10379
OMAiVKVLYKQ
OrthoDBiEOG091G09SM
PhylomeDBiQ13515
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

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 dbSNP:rs104893685EnsemblClinVar.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

Similar proteinsi

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, 18 interactors
IntActiQ13515, 57 interactors
STRINGi9606.ENSP00000304987

PTM databases

iPTMnetiQ13515
PhosphoSitePlusiQ13515

Polymorphism and mutation databases

DMDMi17366451

Proteomic databases

EPDiQ13515
MaxQBiQ13515
PaxDbiQ13515
PeptideAtlasiQ13515
PRIDEiQ13515
ProteomicsDBi59513

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
EuPathDBiHostDB:ENSG00000170819.4
GeneCardsiBFSP2
HGNCiHGNC:1041 BFSP2
HPAiHPA038464
HPA062959
MalaCardsiBFSP2
MIMi603212 gene
611597 phenotype
neXtProtiNX_Q13515
OpenTargetsiENSG00000170819
Orphaneti441452 Early-onset lamellar cataract
98985 Early-onset sutural cataract
98984 Pulverulent cataract
PharmGKBiPA25344
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHF9 Eukaryota
ENOG410XQY0 LUCA
GeneTreeiENSGT00910000144173
HOGENOMiHOG000230975
HOVERGENiHBG013015
InParanoidiQ13515
KOiK10379
OMAiVKVLYKQ
OrthoDBiEOG091G09SM
PhylomeDBiQ13515
TreeFamiTF332742

Miscellaneous databases

GeneWikiiBFSP2
GenomeRNAii8419
PROiPR:Q13515
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170819 Expressed in 54 organ(s), highest expression level in lens of camera-type eye
CleanExiHS_BFSP2
GenevisibleiQ13515 HS

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_HUMAN
AccessioniPrimary (citable) accession number: Q13515
Secondary accession number(s): Q14D32, Q9HBW5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 152 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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