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Q13515

- BFSP2_HUMAN

UniProt

Q13515 - BFSP2_HUMAN

Protein

Phakinin

Gene

BFSP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    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

    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

    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.
    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

    MSERRVVVDL PTSASSSMPL QRRRASFRGP RSSSSLESPP ASRTNAMSGL    50
    VRAPGVYVGT APSGCIGGLG ARVTRRALGI SSVFLQGLRS SGLATVPAPG 100
    LERDHGAVED LGGCLVEYMA KVHALEQVSQ ELETQLRMHL ESKATRSGNW 150
    GALRASWASS CQQVGEAVLE NARLMLQTET IQAGADDFKE RYENEQPFRK 200
    AAEEEINSLY KVIDEANLTK MDLESQIESL KEELGSLSRN YEEDVKLLHK 250
    QLAGCELEQM DAPIGTGLDD ILETIRIQWE RDVEKNRVEA GALLQAKQQA 300
    EVAHMSQTQE EKLAAALRVE LHNTSCQVQS LQAETESLRA LKRGLENTLH 350
    DAKHWHDMEL QNLGAVVGRL EAELREIRAE AEQQQQERAH LLARKCQLQK 400
    DVASYHALLD REESG 415
    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.
    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

    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 1, 2014
    This is version 122 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