Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q13515

- BFSP2_HUMAN

UniProt

Q13515 - BFSP2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Phakinin

Gene

BFSP2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. structural constituent of cytoskeleton Source: ProtInc
  2. structural constituent of eye lens Source: UniProtKB-KW

GO - Biological processi

  1. cell maturation Source: Ensembl
  2. intermediate filament cytoskeleton organization Source: Ensembl
  3. lens fiber cell development Source: Ensembl
  4. response to stimulus Source: UniProtKB-KW
  5. 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:
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: Chromosome 3

Organism-specific databases

HGNCiHGNC:1041. BFSP2.

Subcellular locationi

Membrane. Cytoplasm. Cytoplasmcytoskeleton
Note: Membrane- and cytoskeleton-associated.

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. intermediate filament Source: ProtInc
  3. 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) [MIM:611597]: An 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.

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.

Protein-protein interaction databases

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:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi17366451.

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U48224 mRNA. Translation: AAC50414.1 .
BC113518 mRNA. Translation: AAI13519.1 .
BC113520 mRNA. Translation: AAI13521.1 .
AF195044 Genomic DNA. Translation: AAG30728.1 .
CCDSi CCDS33859.1.
RefSeqi NP_003562.1. NM_003571.3.
UniGenei Hs.659862.

3D structure databases

ProteinModelPortali Q13515.
SMRi Q13515. Positions 328-410.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000304987.

PTM databases

PhosphoSitei Q13515.

Polymorphism databases

DMDMi 17366451.

Proteomic databases

MaxQBi Q13515.
PaxDbi Q13515.
PeptideAtlasi Q13515.
PRIDEi Q13515.

Protocols and materials databases

DNASUi 8419.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000302334 ; ENSP00000304987 ; ENSG00000170819 .
GeneIDi 8419.
KEGGi hsa:8419.
UCSCi uc003epn.1. human.

Organism-specific databases

CTDi 8419.
GeneCardsi GC03P133118.
HGNCi HGNC:1041. BFSP2.
HPAi HPA038464.
MIMi 603212. gene.
611597. phenotype.
neXtProti NX_Q13515.
Orphaneti 98992. Partial congenital cataract.
PharmGKBi PA25344.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG148080.
GeneTreei ENSGT00760000119046.
HOGENOMi HOG000230975.
HOVERGENi HBG013015.
InParanoidi Q13515.
KOi K10379.
OMAi DVASYHA.
OrthoDBi EOG7FV3Q8.
PhylomeDBi Q13515.
TreeFami TF332742.

Miscellaneous databases

GeneWikii BFSP2.
GenomeRNAii 8419.
NextBioi 31511.
PROi Q13515.
SOURCEi Search...

Gene expression databases

Bgeei Q13515.
CleanExi HS_BFSP2.
Genevestigatori Q13515.

Family and domain databases

InterProi IPR001664. IF.
IPR002957. Keratin_I.
IPR027694. Phakinin.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
PTHR23239:SF32. PTHR23239:SF32. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
PRINTSi PR01248. TYPE1KERATIN.
ProtoNeti Search...

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: October 29, 2014
This is version 123 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