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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

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
ProteomesiUP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:1041. BFSP2.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti233 – 2331Missing in CTRCT12. 2 Publications
VAR_012163
Natural varianti287 – 2871R → W in CTRCT12. 1 Publication
VAR_012164

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MIMi611597. phenotype.
Orphaneti98992. Partial congenital cataract.
PharmGKBiPA25344.

Polymorphism and mutation databases

DMDMi17366451.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 415415PhakininPRO_0000063851Add
BLAST

Proteomic databases

MaxQBiQ13515.
PaxDbiQ13515.
PeptideAtlasiQ13515.
PRIDEiQ13515.

PTM databases

PhosphoSiteiQ13515.

Expressioni

Tissue specificityi

Lens.

Gene expression databases

BgeeiQ13515.
CleanExiHS_BFSP2.
GenevestigatoriQ13515.

Organism-specific databases

HPAiHPA038464.

Interactioni

Subunit structurei

Associates with BFSP1. Interacts with LGSN.

Binary interactionsi

WithEntry#Exp.IntActNotes
ATF4Q96AQ33EBI-10229433,EBI-740263
MBIPQ9NS73-53EBI-10229433,EBI-10182361
SYCE1Q8N0S23EBI-10229433,EBI-6872807

Protein-protein interaction databases

BioGridi114005. 3 interactions.
IntActiQ13515. 3 interactions.
STRINGi9606.ENSP00000304987.

Structurei

3D structure databases

ProteinModelPortaliQ13515.
SMRiQ13515. Positions 328-410.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 114114HeadAdd
BLAST
Regioni115 – 395281RodAdd
BLAST
Regioni396 – 41520TailAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili115 – 14430Sequence AnalysisAdd
BLAST
Coiled coili199 – 25355Sequence AnalysisAdd
BLAST
Coiled coili309 – 40092Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiNOG148080.
GeneTreeiENSGT00760000119046.
HOGENOMiHOG000230975.
HOVERGENiHBG013015.
InParanoidiQ13515.
KOiK10379.
OMAiDVASYHA.
OrthoDBiEOG7FV3Q8.
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.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti233 – 2331Missing in CTRCT12. 2 Publications
VAR_012163
Natural varianti287 – 2871R → W in CTRCT12. 1 Publication
VAR_012164

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.
UniGeneiHs.659862.

Genome annotation databases

EnsembliENST00000302334; ENSP00000304987; ENSG00000170819.
GeneIDi8419.
KEGGihsa:8419.
UCSCiuc003epn.1. 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.
UniGeneiHs.659862.

3D structure databases

ProteinModelPortaliQ13515.
SMRiQ13515. Positions 328-410.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114005. 3 interactions.
IntActiQ13515. 3 interactions.
STRINGi9606.ENSP00000304987.

PTM databases

PhosphoSiteiQ13515.

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.1. human.

Organism-specific databases

CTDi8419.
GeneCardsiGC03P133118.
HGNCiHGNC:1041. BFSP2.
HPAiHPA038464.
MIMi603212. gene.
611597. phenotype.
neXtProtiNX_Q13515.
Orphaneti98992. Partial congenital cataract.
PharmGKBiPA25344.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG148080.
GeneTreeiENSGT00760000119046.
HOGENOMiHOG000230975.
HOVERGENiHBG013015.
InParanoidiQ13515.
KOiK10379.
OMAiDVASYHA.
OrthoDBiEOG7FV3Q8.
PhylomeDBiQ13515.
TreeFamiTF332742.

Miscellaneous databases

GeneWikiiBFSP2.
GenomeRNAii8419.
NextBioi31511.
PROiQ13515.
SOURCEiSearch...

Gene expression databases

BgeeiQ13515.
CleanExiHS_BFSP2.
GenevestigatoriQ13515.

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.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein."
    Hess J.F., Casselman J.T., FitzGerald P.G.
    J. Biol. Chem. 271:6729-6735(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Lens.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. "Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2."
    Jakobs P.M., Hess J.F., FitzGerald P.G., Kramer P., Weleber R.G., Litt M.
    Am. J. Hum. Genet. 66:1432-1436(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 164-415, VARIANT CTRCT12 GLU-233 DEL.
  4. "A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2."
    Conley Y.P., Erturk D., Keverline A., Mah T.S., Keravala A., Barnes L.R., Bruchis A., Hess J.F., FitzGerald P.G., Weeks D.E., Ferrell R.E., Gorin M.B.
    Am. J. Hum. Genet. 66:1426-1431(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT12 TRP-287.
  5. "Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family."
    Zhang Q., Guo X., Xiao X., Yi J., Jia X., Hejtmancik J.F.
    Mol. Vis. 10:890-900(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT12 GLU-233 DEL.

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: April 29, 2015
This is version 126 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

External Data

Dasty 3

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 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.