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Q13515 (BFSP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:BFSP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length415 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in stabilization of lens fiber cell cytoskeleton By similarity.

Subunit structure

Associates with BFSP1. Interacts with LGSN.

Subcellular location

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

Tissue specificity

Lens.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.4 Ref.5

Sequence similarities

Belongs to the intermediate filament family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 415415Phakinin
PRO_0000063851

Regions

Region1 – 114114Head
Region115 – 395281Rod
Region396 – 41520Tail
Coiled coil115 – 14430 Potential
Coiled coil199 – 25355 Potential
Coiled coil309 – 40092 Potential

Natural variations

Natural variant2331Missing in CTRCT12. Ref.3 Ref.5
VAR_012163
Natural variant2871R → W in CTRCT12. Ref.4
VAR_012164

Sequences

Sequence LengthMass (Da)Tools
Q13515 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 4CB899386D443FEA

FASTA41545,880
        10         20         30         40         50         60 
MSERRVVVDL PTSASSSMPL QRRRASFRGP RSSSSLESPP ASRTNAMSGL VRAPGVYVGT 

        70         80         90        100        110        120 
APSGCIGGLG ARVTRRALGI SSVFLQGLRS SGLATVPAPG LERDHGAVED LGGCLVEYMA 

       130        140        150        160        170        180 
KVHALEQVSQ ELETQLRMHL ESKATRSGNW GALRASWASS CQQVGEAVLE NARLMLQTET 

       190        200        210        220        230        240 
IQAGADDFKE RYENEQPFRK AAEEEINSLY KVIDEANLTK MDLESQIESL KEELGSLSRN 

       250        260        270        280        290        300 
YEEDVKLLHK QLAGCELEQM DAPIGTGLDD ILETIRIQWE RDVEKNRVEA GALLQAKQQA 

       310        320        330        340        350        360 
EVAHMSQTQE EKLAAALRVE LHNTSCQVQS LQAETESLRA LKRGLENTLH DAKHWHDMEL 

       370        380        390        400        410 
QNLGAVVGRL EAELREIRAE AEQQQQERAH LLARKCQLQK DVASYHALLD REESG 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U48224 mRNA. Translation: AAC50414.1.
BC113518 mRNA. Translation: AAI13519.1.
BC113520 mRNA. Translation: AAI13521.1.
AF195044 Genomic DNA. Translation: AAG30728.1.
CCDSCCDS33859.1.
RefSeqNP_003562.1. NM_003571.3.
UniGeneHs.659862.

3D structure databases

ProteinModelPortalQ13515.
SMRQ13515. Positions 328-410.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000304987.

PTM databases

PhosphoSiteQ13515.

Polymorphism databases

DMDM17366451.

Proteomic databases

MaxQBQ13515.
PaxDbQ13515.
PeptideAtlasQ13515.
PRIDEQ13515.

Protocols and materials databases

DNASU8419.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000302334; ENSP00000304987; ENSG00000170819.
GeneID8419.
KEGGhsa:8419.
UCSCuc003epn.1. human.

Organism-specific databases

CTD8419.
GeneCardsGC03P133118.
HGNCHGNC:1041. BFSP2.
HPAHPA038464.
MIM603212. gene.
611597. phenotype.
neXtProtNX_Q13515.
Orphanet98992. Partial congenital cataract.
PharmGKBPA25344.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG148080.
HOGENOMHOG000230975.
HOVERGENHBG013015.
InParanoidQ13515.
KOK10379.
OMADVASYHA.
OrthoDBEOG7FV3Q8.
PhylomeDBQ13515.
TreeFamTF332742.

Gene expression databases

BgeeQ13515.
CleanExHS_BFSP2.
GenevestigatorQ13515.

Family and domain databases

InterProIPR001664. IF.
IPR002957. Keratin_I.
IPR027694. Phakinin.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF32. PTHR23239:SF32. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01248. TYPE1KERATIN.
ProtoNetSearch...

Other

GeneWikiBFSP2.
GenomeRNAi8419.
NextBio31511.
PROQ13515.
SOURCESearch...

Entry information

Entry nameBFSP2_HUMAN
AccessionPrimary (citable) accession number: Q13515
Secondary accession number(s): Q14D32, Q9HBW5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 1, 1996
Last modified: July 9, 2014
This is version 121 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM