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UniProtKB - Q13515 (BFSP2_HUMAN)

Entry version 166 (02 Dec 2020)
Sequence version 1 (01 Nov 1996)
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Protein

Phakinin

Gene

BFSP2

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

Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Plays a role in maintenance of retinal lens optical clarity (By similarity).By similarity1 Publication

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
Biological processSensory transduction, Vision

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q13515

<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%5Fand%5Ftaxonomy%5Fsection">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:
Phakinin1 Publication
Alternative 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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:BFSP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 3

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000170819.4

Human Gene Nomenclature Database

More...HGNCi		HGNC:1041, BFSP2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603212, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q13515

<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 12, multiple types (CTRCT12)5 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. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset.
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_012163233Missing in CTRCT12. 4 PublicationsCorresponds to variant dbSNP:rs121908938Ensembl.1
Natural variantiVAR_012164287R → W in CTRCT12. 1 PublicationCorresponds to variant dbSNP:rs104893685EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		8419

MalaCards human disease database

More...MalaCardsi		BFSP2
MIMi611597, phenotype

Open Targets

More...OpenTargetsi		ENSG00000170819

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

More...Orphaneti		441452, Early-onset lamellar cataract
98985, Early-onset sutural cataract
98984, Pulverulent cataract

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25344

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13515, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BFSP2

Domain mapping of disease mutations (DMDM)

More...DMDMi		17366451

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000638512 – 415PhakininCuratedAdd BLAST414

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 residuei2N-acetylserineBy similarity1
Modified residuei26PhosphoserineBy similarity1
Modified residuei32PhosphoserineBy similarity1
Modified residuei35PhosphoserineBy similarity1
Modified residuei90PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q13515

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q13515

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

More...PaxDbi		Q13515

PeptideAtlas

More...PeptideAtlasi		Q13515

PRoteomics IDEntifications database

More...PRIDEi		Q13515

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59513

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q13515

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

More...PhosphoSitePlusi		Q13515

<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

More...Bgeei		ENSG00000170819, Expressed in lens of camera-type eye and 87 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q13515, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000170819, Tissue enriched (blood)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q13515
With#Exp.IntAct
ABI3 [Q9P2A4]5EBI-10229433,EBI-742038
AMOTL2 [Q9Y2J4]3EBI-10229433,EBI-746752
ANKRD33 - isoform 1 [Q7Z3H0-1]3EBI-10229433,EBI-16746154
ATF4 [P18848]11EBI-10229433,EBI-492498
BEX3 [Q00994]3EBI-10229433,EBI-741753
BEX5 [Q5H9J7]3EBI-10229433,EBI-10243741
BFSP1 - isoform 2 [Q12934-2]5EBI-10229433,EBI-12123320
BICRAL [Q6AI39]3EBI-10229433,EBI-1012434
BLOC1S2 [Q6QNY1]3EBI-10229433,EBI-465872
C3orf62 [Q6ZUJ4]3EBI-10229433,EBI-2837036
CAGE1 - isoform 4 [Q8TC20-4]3EBI-10229433,EBI-11522698
CALCOCO1 [Q9P1Z2]3EBI-10229433,EBI-749920
CCDC153 - isoform 2 [Q494R4-2]3EBI-10229433,EBI-11974185
CCDC183 [G5E9W6]3EBI-10229433,EBI-17212717
CDCA4 [Q9BXL8]3EBI-10229433,EBI-1773949
CDR2L [Q86X02]4EBI-10229433,EBI-11063830
CEP44 [Q9C0F1]3EBI-10229433,EBI-744115
CEP63 - isoform 3 [Q96MT8-3]3EBI-10229433,EBI-11522539
COPS6 [Q7L5N1]3EBI-10229433,EBI-486838
CT55 [Q8WUE5]3EBI-10229433,EBI-6873363
DISC1 - isoform 2 [Q9NRI5-2]3EBI-10229433,EBI-11988027
DMAP1 [Q9NPF5]5EBI-10229433,EBI-399105
ECSIT [Q9BQ95]3EBI-10229433,EBI-712452
HAUS1 [Q96CS2]5EBI-10229433,EBI-2514791
HGS [O14964]3EBI-10229433,EBI-740220
KRT14 [P02533]3EBI-10229433,EBI-702178
KRT24 [Q2M2I5]3EBI-10229433,EBI-2952736
KRT27 [Q7Z3Y8]3EBI-10229433,EBI-3044087
KRT31 [Q15323]3EBI-10229433,EBI-948001
KRT37 [O76014]3EBI-10229433,EBI-1045716
MAGEA6 [P43360]3EBI-10229433,EBI-1045155
MBIP - isoform 4 [Q9NS73-5]6EBI-10229433,EBI-10182361
MCCD1 [P59942]3EBI-10229433,EBI-11987923
MYOG [P15173]3EBI-10229433,EBI-3906629
OIP5 [O43482]3EBI-10229433,EBI-536879
PBX2 [P40425]3EBI-10229433,EBI-348489
PBX4 [Q9BYU1]3EBI-10229433,EBI-10302990
POU6F2 [P78424]3EBI-10229433,EBI-12029004
PPP1R13B [Q96KQ4]3EBI-10229433,EBI-1105153
PSMC5 [P62195]3EBI-10229433,EBI-357745
RINT1 [Q6NUQ1]3EBI-10229433,EBI-726876
RNASE10 [Q5GAN6]3EBI-10229433,EBI-12423312
SAPCD2 [Q86UD0]3EBI-10229433,EBI-2561646
SCOC - isoform 3 [Q9UIL1-3]3EBI-10229433,EBI-10692913
SERTAD3 [Q9UJW9]3EBI-10229433,EBI-748621
SNAPC5 - isoform 2 [O75971-2]3EBI-10229433,EBI-12004298
SNAPIN [O95295]3EBI-10229433,EBI-296723
SUFU [Q9UMX1]4EBI-10229433,EBI-740595
SYCE1 [Q8N0S2]11EBI-10229433,EBI-6872807
TRIB3 [Q96RU7]3EBI-10229433,EBI-492476
USHBP1 [Q8N6Y0]6EBI-10229433,EBI-739895
USP54 - isoform 6 [Q70EL1-9]3EBI-10229433,EBI-11975223
WASHC3 [Q9Y3C0]3EBI-10229433,EBI-712969
ZNF343 [Q6P1L6]3EBI-10229433,EBI-10252492
ZNF620 [Q6ZNG0]3EBI-10229433,EBI-4395669

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114005, 65 interactors

Protein interaction database and analysis system

More...IntActi		Q13515, 63 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000304987

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q13515, protein

<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

More...SMRi		Q13515

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%5Fand%5Fdomains%5Fsection">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>Domaini104 – 415IF rodPROSITE-ProRule annotationAdd BLAST312

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>Regioni2 – 114HeadAdd BLAST113
Regioni396 – 415TailAdd BLAST20

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili115 – 144Sequence analysisAdd BLAST30
Coiled coili199 – 253Sequence analysisAdd BLAST55
Coiled coili309 – 400Sequence analysisAdd BLAST92

<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

More...eggNOGi		ENOG502QTD1, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159820

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_012560_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13515

Identification of Orthologs from Complete Genome Data

More...OMAi		ETIRIQW

Database of Orthologous Groups

More...OrthoDBi		803338at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q13515

TreeFam database of animal gene trees

More...TreeFami		TF332742

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.5.1160, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039008, IF_rod_dom
IPR042180, IF_rod_dom_coil1B
IPR002957, Keratin_I
IPR027694, Phakinin

The PANTHER Classification System

More...PANTHERi		PTHR23239, PTHR23239, 1 hit
PTHR23239:SF32, PTHR23239:SF32, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00038, Filament, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01248, TYPE1KERATIN

Simple Modular Architecture Research Tool; a protein domain database

More...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%5Flength">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>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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
<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:i4CB899386D443FEA
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012163233Missing in CTRCT12. 4 PublicationsCorresponds to variant dbSNP:rs121908938Ensembl.1
Natural variantiVAR_012164287R → W in CTRCT12. 1 PublicationCorresponds to variant dbSNP:rs104893685EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U48224 mRNA Translation: AAC50414.1
BC113518 mRNA Translation: AAI13519.1
BC113520 mRNA Translation: AAI13521.1
AF195044 Genomic DNA Translation: AAG30728.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33859.1

NCBI Reference Sequences

More...RefSeqi		NP_003562.1, NM_003571.3
XP_016862804.1, XM_017007315.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000302334; ENSP00000304987; ENSG00000170819

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8419

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8419

UCSC genome browser

More...UCSCi		uc003epn.3, human

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
CCDSiCCDS33859.1
RefSeqiNP_003562.1, NM_003571.3
XP_016862804.1, XM_017007315.1

3D structure databases

SMRiQ13515
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114005, 65 interactors
IntActiQ13515, 63 interactors
STRINGi9606.ENSP00000304987

PTM databases

iPTMnetiQ13515
PhosphoSitePlusiQ13515

Polymorphism and mutation databases

BioMutaiBFSP2
DMDMi17366451

Proteomic databases

EPDiQ13515
MaxQBiQ13515
PaxDbiQ13515
PeptideAtlasiQ13515
PRIDEiQ13515
ProteomicsDBi59513

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33369, 144 antibodies

The DNASU plasmid repository

More...DNASUi		8419

Genome annotation databases

EnsembliENST00000302334; ENSP00000304987; ENSG00000170819
GeneIDi8419
KEGGihsa:8419
UCSCiuc003epn.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8419
DisGeNETi8419
EuPathDBiHostDB:ENSG00000170819.4

GeneCards: human genes, protein and diseases

More...GeneCardsi		BFSP2
HGNCiHGNC:1041, BFSP2
HPAiENSG00000170819, Tissue enriched (blood)
MalaCardsiBFSP2
MIMi603212, gene
611597, phenotype
neXtProtiNX_Q13515
OpenTargetsiENSG00000170819
Orphaneti441452, Early-onset lamellar cataract
98985, Early-onset sutural cataract
98984, Pulverulent cataract
PharmGKBiPA25344

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QTD1, Eukaryota
GeneTreeiENSGT00940000159820
HOGENOMiCLU_012560_0_0_1
InParanoidiQ13515
OMAiETIRIQW
OrthoDBi803338at2759
PhylomeDBiQ13515
TreeFamiTF332742

Enzyme and pathway databases

PathwayCommonsiQ13515

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8419, 5 hits in 845 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		BFSP2

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

More...GenomeRNAii		8419
PharosiQ13515, Tbio

Protein Ontology

More...PROi		PR:Q13515
RNActiQ13515, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000170819, Expressed in lens of camera-type eye and 87 other tissues
GenevisibleiQ13515, HS

Family and domain databases

Gene3Di1.20.5.1160, 1 hit
InterProiView protein in InterPro
IPR039008, IF_rod_dom
IPR042180, IF_rod_dom_coil1B
IPR002957, Keratin_I
IPR027694, Phakinin
PANTHERiPTHR23239, PTHR23239, 1 hit
PTHR23239:SF32, PTHR23239:SF32, 1 hit
PfamiView protein in Pfam
PF00038, Filament, 1 hit
PRINTSiPR01248, TYPE1KERATIN
SMARTiView protein in SMART
SM01391, Filament, 1 hit
PROSITEiView protein in PROSITE
PS51842, IF_ROD_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiBFSP2_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: Q13515
Secondary accession number(s): Q14D32, Q9HBW5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<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

Reference proteome

Documents

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