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Entry version 169 (31 Jul 2019)
Sequence version 3 (26 Sep 2001)
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Protein

Filensin

Gene

BFSP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • structural constituent of cytoskeleton Source: ProtInc
  • structural constituent of eye lens Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionEye lens protein

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Filensin
Alternative name(s):
Beaded filament structural protein 1
Lens fiber cell beaded-filament structural protein CP 115
Short name:
CP115
Lens intermediate filament-like heavy
Short name:
LIFL-H
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BFSP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1040 BFSP1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603307 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q12934

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Intermediate filament, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cataract 33, multiple types (CTRCT33)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. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078861348D → N in CTRCT33. 1 Publication1

Keywords - Diseasei

Cataract

Organism-specific databases

DisGeNET

More...
DisGeNETi
631

MalaCards human disease database

More...
MalaCardsi
BFSP1
MIMi611391 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000125864

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98991 Early-onset nuclear cataract

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25343

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BFSP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
17372543

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000638471 – 665FilensinAdd BLAST665

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei5Phosphoserine; by PKASequence analysis1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q12934

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q12934

PeptideAtlas

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PeptideAtlasi
Q12934

PRoteomics IDEntifications database

More...
PRIDEi
Q12934

ProteomicsDB human proteome resource

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ProteomicsDBi
25331
59039 [Q12934-1]
59040 [Q12934-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q12934

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q12934

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Lens.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000125864 Expressed in 128 organ(s), highest expression level in tendon of biceps brachii

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q12934 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040748
HPA042038

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Associates with BFSP2 to form long fibrils (By similarity). Identified in complexes that contain VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
NUP62P371983EBI-10227494,EBI-347978

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107100, 36 interactors

Protein interaction database and analysis system

More...
IntActi
Q12934, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000367104

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q12934

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini40 – 320IF rodPROSITE-ProRule annotationAdd BLAST281

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 40HeadAdd BLAST40
Regioni41 – 75Coil 1AAdd BLAST35
Regioni76 – 84Linker 19
Regioni85 – 184Coil 1BAdd BLAST100
Regioni185 – 201Linker 12Add BLAST17
Regioni202 – 320Coil 2Add BLAST119
Regioni321 – 665TailAdd BLAST345

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHW9 Eukaryota
ENOG410ZJHK LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016976

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000095201

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q12934

KEGG Orthology (KO)

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KOi
K10378

Identification of Orthologs from Complete Genome Data

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OMAi
DLYTKGR

Database of Orthologous Groups

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OrthoDBi
677568at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q12934

TreeFam database of animal gene trees

More...
TreeFami
TF331671

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.5.1160, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR042358 BFSP1
IPR039008 IF_rod_dom
IPR042180 IF_rod_dom_coil1B

The PANTHER Classification System

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PANTHERi
PTHR14069 PTHR14069, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00038 Filament, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01391 Filament, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51842 IF_ROD_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q12934-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MYRRSYVFQT RKEQYEHADE ASRAAEPERP ADEGWAGATS LAALQGLGER
60 70 80 90 100
VAAHVQRARA LEQRHAGLRR QLDAFQRLGE LAGPEDALAR QVESNRQRVR
110 120 130 140 150
DLEAERARLE RQGTEAQRAL DEFRSKYENE CECQLLLKEM LERLNKEADE
160 170 180 190 200
ALLHNLRLQL EAQFLQDDIS AAKDRHKKNL LEVQTYISIL QQIIHTTPPA
210 220 230 240 250
SIVTSGMREE KLLTEREVAA LRSQLEEGRE VLSHLQAQRV ELQAQTTTLE
260 270 280 290 300
QAIKSAHECY DDEIQLYNEQ IETLRKEIEE TERVLEKSSY DCRQLAVAQQ
310 320 330 340 350
TLKNELDRYH RIIEIEGNRL TSAFIETPIP LFTQSHGVSL STGSGGKDLT
360 370 380 390 400
RALQDITAAK PRQKALPKNV PRRKEIITKD KTNGALEDAP LKGLEDTKLV
410 420 430 440 450
QVVLKEESES KFESESKEVS PLTQEGAPED VPDGGQISKG FGKLYRKVKE
460 470 480 490 500
KVRSPKEPET PTELYTKERH VLVTGDANYV DPRFYVSSIT AKGGVAVSVA
510 520 530 540 550
EDSVLYDGQV EPSPESPKPP LENGQVGLQE KEDGQPIDQQ PIDKEIEPDG
560 570 580 590 600
AELEGPEEKR EGEERDEESR RPCAMVTPGA EEPSIPEPPK PAADQDGAEV
610 620 630 640 650
LGTRSRSLPE KGPPKALAYK TVEVVESIEK ISTESIQTYE ETAVIVETMI
660
GKTKSDKKKS GEKSS
Length:665
Mass (Da):74,544
Last modified:September 26, 2001 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA99FE174A8B63E9C
GO
Isoform 2 (identifier: Q12934-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-125: Missing.
     126-126: K → M

Note: No experimental confirmation available.
Show »
Length:540
Mass (Da):60,296
Checksum:iFB65B543A8A2A41B
GO
Isoform 3 (identifier: Q12934-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-139: Missing.

Note: No experimental confirmation available.
Show »
Length:526
Mass (Da):58,569
Checksum:iA992AA17D2E02034
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAA76349 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti96R → P in AAG17186 (PubMed:10909854).Curated1
Sequence conflicti176 – 177HK → TR in AAA74423 (PubMed:7720401).Curated2
Sequence conflicti248T → A in AAA74423 (PubMed:7720401).Curated1
Sequence conflicti398K → R in AAB94939 (PubMed:9628810).Curated1
Sequence conflicti568E → G in AAB94939 (PubMed:9628810).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024492345G → S. Corresponds to variant dbSNP:rs6080719EnsemblClinVar.1
Natural variantiVAR_078861348D → N in CTRCT33. 1 Publication1
Natural variantiVAR_036683656D → E. Corresponds to variant dbSNP:rs16999317Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0550641 – 139Missing in isoform 3. CuratedAdd BLAST139
Alternative sequenceiVSP_0249211 – 125Missing in isoform 2. 1 PublicationAdd BLAST125
Alternative sequenceiVSP_024922126K → M in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF039655 mRNA Translation: AAB94939.1
Y16717 mRNA Translation: CAA76348.1
Y16718
, Y16719, Y16720, Y16722, Y16723, Y16721 Genomic DNA Translation: CAA76349.1 Sequence problems.
AL031664 Genomic DNA No translation available.
AL132765 Genomic DNA No translation available.
BC041483 mRNA Translation: AAH41483.1
U12622 mRNA Translation: AAA74423.1
AH009849 Genomic DNA Translation: AAG17186.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13126.1 [Q12934-1]
CCDS54448.1 [Q12934-2]
CCDS63229.1 [Q12934-3]

Protein sequence database of the Protein Information Resource

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PIRi
I38730

NCBI Reference Sequences

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RefSeqi
NP_001155177.1, NM_001161705.1 [Q12934-2]
NP_001186.1, NM_001195.4 [Q12934-1]
NP_001265535.1, NM_001278606.1 [Q12934-3]
NP_001265536.1, NM_001278607.1
NP_001265537.1, NM_001278608.1 [Q12934-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000377868; ENSP00000367099; ENSG00000125864 [Q12934-2]
ENST00000377873; ENSP00000367104; ENSG00000125864 [Q12934-1]
ENST00000536626; ENSP00000442522; ENSG00000125864 [Q12934-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
631

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:631

UCSC genome browser

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UCSCi
uc002wpo.4 human [Q12934-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039655 mRNA Translation: AAB94939.1
Y16717 mRNA Translation: CAA76348.1
Y16718
, Y16719, Y16720, Y16722, Y16723, Y16721 Genomic DNA Translation: CAA76349.1 Sequence problems.
AL031664 Genomic DNA No translation available.
AL132765 Genomic DNA No translation available.
BC041483 mRNA Translation: AAH41483.1
U12622 mRNA Translation: AAA74423.1
AH009849 Genomic DNA Translation: AAG17186.1
CCDSiCCDS13126.1 [Q12934-1]
CCDS54448.1 [Q12934-2]
CCDS63229.1 [Q12934-3]
PIRiI38730
RefSeqiNP_001155177.1, NM_001161705.1 [Q12934-2]
NP_001186.1, NM_001195.4 [Q12934-1]
NP_001265535.1, NM_001278606.1 [Q12934-3]
NP_001265536.1, NM_001278607.1
NP_001265537.1, NM_001278608.1 [Q12934-3]

3D structure databases

SMRiQ12934
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107100, 36 interactors
IntActiQ12934, 11 interactors
STRINGi9606.ENSP00000367104

PTM databases

iPTMnetiQ12934
PhosphoSitePlusiQ12934

Polymorphism and mutation databases

BioMutaiBFSP1
DMDMi17372543

Proteomic databases

jPOSTiQ12934
PaxDbiQ12934
PeptideAtlasiQ12934
PRIDEiQ12934
ProteomicsDBi25331
59039 [Q12934-1]
59040 [Q12934-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377868; ENSP00000367099; ENSG00000125864 [Q12934-2]
ENST00000377873; ENSP00000367104; ENSG00000125864 [Q12934-1]
ENST00000536626; ENSP00000442522; ENSG00000125864 [Q12934-3]
GeneIDi631
KEGGihsa:631
UCSCiuc002wpo.4 human [Q12934-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
631
DisGeNETi631

GeneCards: human genes, protein and diseases

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GeneCardsi
BFSP1
HGNCiHGNC:1040 BFSP1
HPAiHPA040748
HPA042038
MalaCardsiBFSP1
MIMi603307 gene
611391 phenotype
neXtProtiNX_Q12934
OpenTargetsiENSG00000125864
Orphaneti98991 Early-onset nuclear cataract
PharmGKBiPA25343

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHW9 Eukaryota
ENOG410ZJHK LUCA
GeneTreeiENSGT00390000016976
HOGENOMiHOG000095201
InParanoidiQ12934
KOiK10378
OMAiDLYTKGR
OrthoDBi677568at2759
PhylomeDBiQ12934
TreeFamiTF331671

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
BFSP1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BFSP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
631

Protein Ontology

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PROi
PR:Q12934

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125864 Expressed in 128 organ(s), highest expression level in tendon of biceps brachii
GenevisibleiQ12934 HS

Family and domain databases

Gene3Di1.20.5.1160, 1 hit
InterProiView protein in InterPro
IPR042358 BFSP1
IPR039008 IF_rod_dom
IPR042180 IF_rod_dom_coil1B
PANTHERiPTHR14069 PTHR14069, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS51842 IF_ROD_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBFSP1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12934
Secondary accession number(s): F5H0G1
, O43595, O76034, O95676, Q8IVZ6, Q9HBX4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 26, 2001
Last modified: July 31, 2019
This is version 169 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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