UniProtKB - Q13515 (BFSP2_HUMAN)
Phakinin
BFSP2
Functioni
GO - Molecular functioni
- structural constituent of cytoskeleton Source: ProtInc
- structural constituent of eye lens Source: UniProtKB-KW
GO - Biological processi
- cell maturation Source: Ensembl
- intermediate filament organization Source: UniProtKB
- lens fiber cell development Source: Ensembl
- response to stimulus Source: UniProtKB-KW
- visual perception Source: UniProtKB-KW
Keywordsi
Molecular function | Eye lens protein |
Biological process | Sensory transduction, Vision |
Enzyme and pathway databases
PathwayCommonsi | Q13515 |
Names & Taxonomyi
Protein namesi | Recommended name: Phakinin1 PublicationAlternative name(s): 49 kDa cytoskeletal protein Beaded filament structural protein 21 Publication Lens fiber cell beaded filament protein CP 471 Publication Short name: CP471 Publication Lens fiber cell beaded filament protein CP 491 Publication Short name: CP491 Publication Lens intermediate filament-like light1 Publication Short name: LIFL-L1 Publication |
Gene namesi | Name:BFSP2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000170819.4 |
HGNCi | HGNC:1041, BFSP2 |
MIMi | 603212, gene |
neXtProti | NX_Q13515 |
Subcellular locationi
Cytoskeleton
- cytoskeleton By similarity
Plasma membrane
- Cell membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
Other locations
- Cytoplasm By similarity
- cell cortex By similarity
Note: Expressed primarily at the plasma membrane in peripheral lens fiber cells, however also localizes to the cytoplasm in mature lens fiber cells.By similarity
Cytoskeleton
- intermediate filament Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- cell cortex Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Cytoskeleton, Intermediate filament, MembranePathology & Biotechi
Involvement in diseasei
Cataract 12, multiple types (CTRCT12)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012163 | 233 | Missing in CTRCT12. 4 PublicationsCorresponds to variant dbSNP:rs121908938Ensembl. | 1 | |
Natural variantiVAR_012164 | 287 | R → W in CTRCT12. 1 PublicationCorresponds to variant dbSNP:rs104893685EnsemblClinVar. | 1 |
Keywords - Diseasei
Cataract, Disease mutationOrganism-specific databases
DisGeNETi | 8419 |
MalaCardsi | BFSP2 |
MIMi | 611597, phenotype |
OpenTargetsi | ENSG00000170819 |
Orphaneti | 441452, Early-onset lamellar cataract 98985, Early-onset sutural cataract 98984, Pulverulent cataract |
PharmGKBi | PA25344 |
Miscellaneous databases
Pharosi | Q13515, Tbio |
Polymorphism and mutation databases
BioMutai | BFSP2 |
DMDMi | 17366451 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedBy similarity | |||
ChainiPRO_0000063851 | 2 – 415 | PhakininCuratedAdd BLAST | 414 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserineBy similarity | 1 | |
Modified residuei | 26 | PhosphoserineBy similarity | 1 | |
Modified residuei | 32 | PhosphoserineBy similarity | 1 | |
Modified residuei | 35 | PhosphoserineBy similarity | 1 | |
Modified residuei | 90 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q13515 |
MaxQBi | Q13515 |
PaxDbi | Q13515 |
PeptideAtlasi | Q13515 |
PRIDEi | Q13515 |
ProteomicsDBi | 59513 |
PTM databases
iPTMneti | Q13515 |
PhosphoSitePlusi | Q13515 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000170819, Expressed in lens of camera-type eye and 87 other tissues |
Genevisiblei | Q13515, HS |
Organism-specific databases
HPAi | ENSG00000170819, Tissue enriched (blood) |
Interactioni
Subunit structurei
Part of a complex required for lens intermediate filament formation composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373).
Found in a complex composed of PPL (via C-terminal linker domain), BFSP1 and BFSP2 in the retinal lens (By similarity). Within the complex interacts with PPL (via C-terminal linker domain) and with BFSP1 (By similarity).
Identified in a complex that contains VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity).
Interacts with LGSN (By similarity).
Interacts with VIM (By similarity).
By similarity1 PublicationBinary interactionsi
Q13515
Protein-protein interaction databases
BioGRIDi | 114005, 65 interactors |
IntActi | Q13515, 63 interactors |
STRINGi | 9606.ENSP00000304987 |
Miscellaneous databases
RNActi | Q13515, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 104 – 415 | IF rodPROSITE-ProRule annotationAdd BLAST | 312 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 2 – 114 | HeadAdd BLAST | 113 | |
Regioni | 396 – 415 | TailAdd BLAST | 20 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 115 – 144 | Sequence analysisAdd BLAST | 30 | |
Coiled coili | 199 – 253 | Sequence analysisAdd BLAST | 55 | |
Coiled coili | 309 – 400 | Sequence analysisAdd BLAST | 92 |
Sequence similaritiesi
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | ENOG502QTD1, Eukaryota |
GeneTreei | ENSGT00940000159820 |
HOGENOMi | CLU_012560_0_0_1 |
InParanoidi | Q13515 |
OMAi | ETIRIQW |
OrthoDBi | 803338at2759 |
PhylomeDBi | Q13515 |
TreeFami | TF332742 |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR002957, Keratin_I IPR027694, Phakinin |
PANTHERi | PTHR23239, PTHR23239, 1 hit PTHR23239:SF32, PTHR23239:SF32, 1 hit |
Pfami | View protein in Pfam PF00038, Filament, 1 hit |
PRINTSi | PR01248, TYPE1KERATIN |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
PROSITEi | View protein in PROSITE PS51842, IF_ROD_2, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012163 | 233 | Missing in CTRCT12. 4 PublicationsCorresponds to variant dbSNP:rs121908938Ensembl. | 1 | |
Natural variantiVAR_012164 | 287 | R → 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 |
CCDSi | CCDS33859.1 |
RefSeqi | NP_003562.1, NM_003571.3 XP_016862804.1, XM_017007315.1 |
Genome annotation databases
Ensembli | ENST00000302334; ENSP00000304987; ENSG00000170819 |
GeneIDi | 8419 |
KEGGi | hsa:8419 |
UCSCi | uc003epn.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 |
CCDSi | CCDS33859.1 |
RefSeqi | NP_003562.1, NM_003571.3 XP_016862804.1, XM_017007315.1 |
3D structure databases
SMRi | Q13515 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 114005, 65 interactors |
IntActi | Q13515, 63 interactors |
STRINGi | 9606.ENSP00000304987 |
PTM databases
iPTMneti | Q13515 |
PhosphoSitePlusi | Q13515 |
Polymorphism and mutation databases
BioMutai | BFSP2 |
DMDMi | 17366451 |
Proteomic databases
EPDi | Q13515 |
MaxQBi | Q13515 |
PaxDbi | Q13515 |
PeptideAtlasi | Q13515 |
PRIDEi | Q13515 |
ProteomicsDBi | 59513 |
Protocols and materials databases
Antibodypediai | 33369, 144 antibodies |
DNASUi | 8419 |
Genome annotation databases
Ensembli | ENST00000302334; ENSP00000304987; ENSG00000170819 |
GeneIDi | 8419 |
KEGGi | hsa:8419 |
UCSCi | uc003epn.3, human |
Organism-specific databases
CTDi | 8419 |
DisGeNETi | 8419 |
EuPathDBi | HostDB:ENSG00000170819.4 |
GeneCardsi | BFSP2 |
HGNCi | HGNC:1041, BFSP2 |
HPAi | ENSG00000170819, Tissue enriched (blood) |
MalaCardsi | BFSP2 |
MIMi | 603212, gene 611597, phenotype |
neXtProti | NX_Q13515 |
OpenTargetsi | ENSG00000170819 |
Orphaneti | 441452, Early-onset lamellar cataract 98985, Early-onset sutural cataract 98984, Pulverulent cataract |
PharmGKBi | PA25344 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QTD1, Eukaryota |
GeneTreei | ENSGT00940000159820 |
HOGENOMi | CLU_012560_0_0_1 |
InParanoidi | Q13515 |
OMAi | ETIRIQW |
OrthoDBi | 803338at2759 |
PhylomeDBi | Q13515 |
TreeFami | TF332742 |
Enzyme and pathway databases
PathwayCommonsi | Q13515 |
Miscellaneous databases
BioGRID-ORCSi | 8419, 5 hits in 845 CRISPR screens |
GeneWikii | BFSP2 |
GenomeRNAii | 8419 |
Pharosi | Q13515, Tbio |
PROi | PR:Q13515 |
RNActi | Q13515, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170819, Expressed in lens of camera-type eye and 87 other tissues |
Genevisiblei | Q13515, HS |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR002957, Keratin_I IPR027694, Phakinin |
PANTHERi | PTHR23239, PTHR23239, 1 hit PTHR23239:SF32, PTHR23239:SF32, 1 hit |
Pfami | View protein in Pfam PF00038, Filament, 1 hit |
PRINTSi | PR01248, TYPE1KERATIN |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
PROSITEi | View protein in PROSITE PS51842, IF_ROD_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BFSP2_HUMAN | |
Accessioni | Q13515Primary (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: | December 2, 2020 | |
This is version 166 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations