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UniProtKB - O75369 (FLNB_HUMAN)

Entry version 228 (23 Feb 2022)
Sequence version 2 (18 May 2010)
Previous versions | rss
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Protein

Filamin-B

Gene

FLNB

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

Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro.

<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 functionActin-binding, Developmental protein
Biological processDifferentiation, Myogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75369

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1169408, ISG15 antiviral mechanism

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O75369

SIGNOR Signaling Network Open Resource

More...SIGNORi		O75369

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.66.1.5, the dystrophin (dystrophin) family

<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:
Filamin-B
Short name:
FLN-B
Alternative name(s):
ABP-278
ABP-280 homolog
Actin-binding-like protein
Beta-filamin
Filamin homolog 1
Short name:
Fh1
Filamin-3
Thyroid autoantigen
Truncated actin-binding protein
Short name:
Truncated ABP
<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:FLNB
Synonyms:FLN1L, FLN3, TABP, TAP
<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

Human Gene Nomenclature Database

More...HGNCi		HGNC:3755, FLNB

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603381, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75369

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000136068

<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

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<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

Interaction with FLNA may compensate for dysfunctional FLNA homodimer in the periventricular nodular heterotopia (PVNH) disorder.
Atelosteogenesis 1 (AO1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue.
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_033072173A → V in AO1. 1 PublicationCorresponds to variant dbSNP:rs121908894EnsemblClinVar.1
Natural variantiVAR_033073188S → P in AO1. 1 Publication1
Natural variantiVAR_033074202M → V in AO1 and AO3. 1 PublicationCorresponds to variant dbSNP:rs121908895EnsemblClinVar.1
Atelosteogenesis 3 (AO3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033074202M → V in AO1 and AO3. 1 PublicationCorresponds to variant dbSNP:rs121908895EnsemblClinVar.1
Natural variantiVAR_033080751G → R in AO3. 1 PublicationCorresponds to variant dbSNP:rs28937587EnsemblClinVar.1
Boomerang dysplasia (BOOMD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033071171L → R in BOOMD. 1 PublicationCorresponds to variant dbSNP:rs80356494EnsemblClinVar.1
Natural variantiVAR_033077235S → P in BOOMD. 1 PublicationCorresponds to variant dbSNP:rs121908896EnsemblClinVar.1
Larsen syndrome (LRS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033069161F → C in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356506EnsemblClinVar.1
Natural variantiVAR_033070168G → S in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356504EnsemblClinVar.1
Natural variantiVAR_033075227E → K in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356508EnsemblClinVar.1
Natural variantiVAR_033076234L → V in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356507EnsemblClinVar.1
Natural variantiVAR_033078361G → S in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356509EnsemblClinVar.1
Natural variantiVAR_033079363G → E in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356510EnsemblClinVar.1
Natural variantiVAR_0330811431L → R in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356511EnsemblClinVar.1
Natural variantiVAR_0330821571Missing in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356512Ensembl.1
Natural variantiVAR_0330831586G → R in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356513EnsemblClinVar.1
Natural variantiVAR_0330841592V → D in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356514EnsemblClinVar.1
Natural variantiVAR_0330851603P → L in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356515EnsemblClinVar.1
Natural variantiVAR_0330861691G → S in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356503EnsemblClinVar.1
Natural variantiVAR_0330871834G → R in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356516EnsemblClinVar.1
Spondylocarpotarsal synostosis syndrome (SCT)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionDisorder characterized by short stature and vertebral, carpal and tarsal fusions.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi2468K → R: Cytoplasmic localization. 1 Publication1

Keywords - Diseasei

Disease variant, Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		2317

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		FLNB

MalaCards human disease database

More...MalaCardsi		FLNB
MIMi108720, phenotype
108721, phenotype
112310, phenotype
150250, phenotype
272460, phenotype

Open Targets

More...OpenTargetsi		ENSG00000136068

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

More...Orphaneti		1190, Atelosteogenesis type I
56305, Atelosteogenesis type III
1263, Boomerang dysplasia
503, Larsen syndrome
3275, Spondylocarpotarsal synostosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28173

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75369, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4295677

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FLNB

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000872981 – 2602Filamin-BAdd BLAST2602

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 residuei216PhosphothreonineCombined sources1
Modified residuei519PhosphothreonineCombined sources1
Modified residuei681N6-acetyllysineCombined sources1
Modified residuei730PhosphoserineCombined sources1
Modified residuei886PhosphoserineCombined sources1
Modified residuei932PhosphoserineCombined sources1
Modified residuei983PhosphoserineCombined sources1
Modified residuei1028PhosphoserineCombined sources1
Modified residuei1307PhosphothreonineCombined sources1
Modified residuei1316PhosphoserineCombined sources1
Modified residuei1433PhosphoserineCombined sources1
Modified residuei1505PhosphoserineCombined sources1
Modified residuei1602PhosphoserineCombined sources1
Modified residuei1780N6-acetyllysineBy similarity1
Modified residuei2083PhosphoserineCombined sources1
Modified residuei2107PhosphoserineCombined sources1
Modified residuei2113PhosphoserineCombined sources1
Modified residuei2369PhosphoserineCombined sources1
Modified residuei2465PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki2468Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15)1 Publication
Modified residuei2478PhosphoserineCombined sources1
Modified residuei2481PhosphoserineCombined sources1
Modified residuei2492PhosphoserineCombined sources1
Modified residuei2518N6-succinyllysineBy similarity1
Modified residuei2524N6-succinyllysineBy similarity1
Modified residuei2576N6-acetyllysineCombined sources1
Isoform 8 (identifier: O75369-8)
Modified residuei1474PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

ISGylation prevents ability to interact with the upstream activators of the JNK cascade and inhibits IFNA-induced JNK signaling.1 Publication
Ubiquitination by a SCF-like complex containing ASB2 isoform 1 leads to proteasomal degradation which promotes muscle differentiation.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-511

Encyclopedia of Proteome Dynamics

More...EPDi		O75369

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75369

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75369

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75369

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

More...PaxDbi		O75369

PeptideAtlas

More...PeptideAtlasi		O75369

PRoteomics IDEntifications database

More...PRIDEi		O75369

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49938 [O75369-1]
49939 [O75369-2]
49940 [O75369-3]
49941 [O75369-4]
49942 [O75369-5]
49943 [O75369-6]
49944 [O75369-7]
49945 [O75369-8]
49946 [O75369-9]
75100

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		O75369

GlyConnect protein glycosylation platform

More...GlyConnecti		2041, 2 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O75369, 5 sites, 4 N-linked glycans (1 site), 1 O-linked glycan (4 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75369

MetOSite database of methionine sulfoxide sites

More...MetOSitei		O75369

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

More...PhosphoSitePlusi		O75369

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O75369

<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

Ubiquitous. Isoform 1 and isoform 2 are expressed in placenta, bone marrow, brain, umbilical vein endothelial cells (HUVEC), retina and skeletal muscle. Isoform 1 is predominantly expressed in prostate, uterus, liver, thyroid, stomach, lymph node, small intestine, spleen, skeletal muscle, kidney, placenta, pancreas, heart, lung, platelets, endothelial cells, megakaryocytic and erythroleukemic cell lines. Isoform 2 is predominantly expressed in spinal cord, platelet and Daudi cells. Also expressed in thyroid adenoma, neurofibrillary tangles (NFT), senile plaques in the hippocampus and cerebral cortex in Alzheimer disease (AD). Isoform 3 and isoform 6 are expressed predominantly in lung, heart, skeletal muscle, testis, spleen, thymus and leukocytes. Isoform 4 and isoform 5 are expressed in heart.4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000136068, Expressed in tibial nerve and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75369, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75369, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000136068, Low tissue specificity

<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

Homodimer.

Interacts with MICALL2 (By similarity).

Interacts with RFLNA and RFLNB (By similarity).

Isoform 1 interacts with FBLP1, FLNA, FLNC, GP1BA, INPPL1, ITGB1A, PSEN1 and PSEN2.

Isoform 3 interacts with ITGB1A, ITGB1D, ITGB3 and ITGB6.

Interacts with MYOT and MYOZ1.

Interacts with HBV capsid protein.

Interacts with ASB2 isoform 1; the interaction targets FLNB for proteasomal degradation (By similarity).

By similarity10 Publications

<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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108606, 173 interactors

Protein interaction database and analysis system

More...IntActi		O75369, 71 interactors

Molecular INTeraction database

More...MINTi		O75369

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000420213

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75369, 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

Secondary structure

12602
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		O75369

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O75369

<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>Domaini16 – 122Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST107
Domaini139 – 242Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST104
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati249 – 347Filamin 1Add BLAST99
Repeati349 – 446Filamin 2Add BLAST98
Repeati447 – 543Filamin 3Add BLAST97
Repeati544 – 636Filamin 4Add BLAST93
Repeati640 – 736Filamin 5Add BLAST97
Repeati737 – 839Filamin 6Add BLAST103
Repeati840 – 938Filamin 7Add BLAST99
Repeati939 – 1034Filamin 8Add BLAST96
Repeati1035 – 1127Filamin 9Add BLAST93
Repeati1128 – 1222Filamin 10Add BLAST95
Repeati1223 – 1322Filamin 11Add BLAST100
Repeati1323 – 1415Filamin 12Add BLAST93
Repeati1416 – 1511Filamin 13Add BLAST96
Repeati1512 – 1608Filamin 14Add BLAST97
Repeati1609 – 1704Filamin 15Add BLAST96
Repeati1729 – 1813Filamin 16Add BLAST85
Repeati1816 – 1908Filamin 17Add BLAST93
Repeati1919 – 1994Filamin 18Add BLAST76
Repeati1997 – 2089Filamin 19Add BLAST93
Repeati2091 – 2185Filamin 20Add BLAST95
Repeati2188 – 2280Filamin 21Add BLAST93
Repeati2282 – 2375Filamin 22Add BLAST94
Repeati2379 – 2471Filamin 23Add BLAST93
Repeati2507 – 2601Filamin 24Add BLAST95

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 – 239Actin-bindingAdd BLAST239
Regioni244 – 267DisorderedSequence analysisAdd BLAST24
Regioni1128 – 1511Interaction with FBLP11 PublicationAdd BLAST384
Regioni1705 – 1728Hinge 1By similarityAdd BLAST24
Regioni1862 – 2148Interaction with the cytoplasmic tail of GP1BAAdd BLAST287
Regioni2060 – 2225Interaction with FLNA 1Add BLAST166
Regioni2130 – 2602Interaction with INPPL11 PublicationAdd BLAST473
Regioni2472 – 2602Self-association site, tailBy similarityAdd BLAST131
Regioni2472 – 2506Hinge 2By similarityAdd BLAST35
Regioni2507 – 2602Interaction with FLNA 2Add BLAST96

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Comprised of a NH2-terminal actin-binding domain, 24 internally homologous repeats and two hinge regions. Repeat 24 and the second hinge domain are important for dimer formation. The first hinge region prevents binding to ITGA and ITGB subunits.

<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 filamin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0518, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156286

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000783_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75369

Identification of Orthologs from Complete Genome Data

More...OMAi		KRMANNH

Database of Orthologous Groups

More...OrthoDBi		35998at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75369

TreeFam database of animal gene trees

More...TreeFami		TF313685

Family and domain databases

Conserved Domains Database

More...CDDi		cd00014, CH, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.418.10, 2 hits
2.60.40.10, 24 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001589, Actinin_actin-bd_CS
IPR001715, CH-domain
IPR036872, CH_dom_sf
IPR044801, Filamin
IPR017868, Filamin/ABP280_repeat-like
IPR001298, Filamin/ABP280_rpt
IPR029874, FLNB
IPR013783, Ig-like_fold
IPR014756, Ig_E-set

The PANTHER Classification System

More...PANTHERi		PTHR38537, PTHR38537, 3 hits
PTHR38537:SF7, PTHR38537:SF7, 3 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00307, CH, 2 hits
PF00630, Filamin, 23 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00033, CH, 2 hits
SM00557, IG_FLMN, 24 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47576, SSF47576, 1 hit
SSF81296, SSF81296, 24 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00019, ACTININ_1, 1 hit
PS00020, ACTININ_2, 1 hit
PS50021, CH, 2 hits
PS50194, FILAMIN_REPEAT, 24 hits

<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>Sequences (9+)i

<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.

This entry describes 9 <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

This entry has 9 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75369-1) [UniParc]FASTAAdd to basket
Also known as: ABP-278

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL 
        60         70         80         90        100
IALLEVLSQK RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK 
       110        120        130        140        150
AIVDGNLKLI LGLVWTLILH YSISMPVWED EGDDDAKKQT PKQRLLGWIQ 
       160        170        180        190        200
NKIPYLPITN FNQNWQDGKA LGALVDSCAP GLCPDWESWD PQKPVDNARE 
       210        220        230        240        250
AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYLSQFPKA KLKPGAPLKP 
       260        270        280        290        300
KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK 
       310        320        330        340        350
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA 
       360        370        380        390        400
QGDASKVTAK GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN 
       410        420        430        440        450
TVELLVEDKG NQVYRCVYKP MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC 
       460        470        480        490        500
NPNACRASGR GLQPKGVRIR ETTDFKVDTK AAGSGELGVT MKGPKGLEEL 
       510        520        530        540        550
VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE VQVGPEAGMQ 
       560        570        580        590        600
KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN 
       610        620        630        640        650
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA 
       660        670        680        690        700
YGPGLEKSGC IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM 
       710        720        730        740        750
DGTYACSYTP VKAIKHTIAV VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP 
       760        770        780        790        800
GVERSGLKAN EPTHFTVDCT EAGEGDVSVG IKCDARVLSE DEEDVDFDII 
       810        820        830        840        850
HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD PSHDASKVKA 
       860        870        880        890        900
EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID 
       910        920        930        940        950
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN 
       960        970        980        990       1000
GLENRVEVGK DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE 
      1010       1020       1030       1040       1050
NSTAKFIPRE EGLYAVDVTY DGHPVPGSPY TVEASLPPDP SKVKAHGPGL 
      1060       1070       1080       1090       1100
EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP CEAKIECSDN GDGTCSVSYL 
      1110       1120       1130       1140       1150
PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG PGLEHGKVGE 
      1160       1170       1180       1190       1200
AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG 
      1210       1220       1230       1240       1250
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD 
      1260       1270       1280       1290       1300
FTVDSRPLTQ VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG 
      1310       1320       1330       1340       1350
LHVVEVTYDD VPIPNSPFKV AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT 
      1360       1370       1380       1390       1400
VVTRGAGIGG LGITVEGPSE SKINCRDNKD GSCSAEYIPF APGDYDVNIT 
      1410       1420       1430       1440       1450
YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL QSFTVDSSKA 
      1460       1470       1480       1490       1500
GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE 
      1510       1520       1530       1540       1550
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG 
      1560       1570       1580       1590       1600
LLAVQITDQE GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP 
      1610       1620       1630       1640       1650
LSPYRIRATQ TGDASKCLAT GPGIASTVKT GEEVGFVVDA KTAGKGKVTC 
      1660       1670       1680       1690       1700
TVLTPDGTEA EADVIENEDG TYDIFYTAAK PGTYVIYVRF GGVDIPNSPF 
      1710       1720       1730       1740       1750
TVMATDGEVT AVEEAPVNAC PPGFRPWVTE EAYVPVSDMN GLGFKPFDLV 
      1760       1770       1780       1790       1800
IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI 
      1810       1820       1830       1840       1850
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG 
      1860       1870       1880       1890       1900
EGGLDLAIEG PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP 
      1910       1920       1930       1940       1950
GSPFTAKITD DSRRCSQVKL GSAADFLLDI SETDLSSLTA SIKAPSGRDE 
      1960       1970       1980       1990       2000
PCLLKRLPNN HIGISFIPRE VGEHLVSIKK NGNHVANSPV SIMVVQSEIG 
      2010       2020       2030       2040       2050
DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE GPSKVDIQTE 
      2060       2070       2080       2090       2100
DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PGSPFTVKIS GEGRVKESIT 
      2110       2120       2130       2140       2150
RTSRAPSVAT VGSICDLNLK IPEINSSDMS AHVTSPSGRV TEAEIVPMGK 
      2160       2170       2180       2190       2200
NSHCVRFVPQ EMGVHTVSVK YRGQHVTGSP FQFTVGPLGE GGAHKVRAGG 
      2210       2220       2230       2240       2250
PGLERGEAGV PAEFSIWTRE AGAGGLSIAV EGPSKAEITF DDHKNGSCGV 
      2260       2270       2280       2290       2300
SYIAQEPGNY EVSIKFNDEH IPESPYLVPV IAPSDDARRL TVMSLQESGL 
      2310       2320       2330       2340       2350
KVNQPASFAI RLNGAKGKID AKVHSPSGAV EECHVSELEP DKYAVRFIPH 
      2360       2370       2380       2390       2400
ENGVHTIDVK FNGSHVVGSP FKVRVGEPGQ AGNPALVSAY GTGLEGGTTG 
      2410       2420       2430       2440       2450
IQSEFFINTT RAGPGTLSVT IEGPSKVKMD CQETPEGYKV MYTPMAPGNY 
      2460       2470       2480       2490       2500
LISVKYGGPN HIVGSPFKAK VTGQRLVSPG SANETSSILV ESVTRSSTET 
      2510       2520       2530       2540       2550
CYSAIPKASS DASKVTSKGA GLSKAFVGQK SSFLVDCSKA GSNMLLIGVH 
      2560       2570       2580       2590       2600
GPTTPCEEVS MKHVGNQQYN VTYVVKERGD YVLAVKWGEE HIPGSPFHVT 

VP
Length:2,602
Mass (Da):278,164
Last modified:May 18, 2010 - v2
<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:i1BF5C64C86360C6A
GO
Isoform 2 (identifier: O75369-2) [UniParc]FASTAAdd to basket
Also known as: ABP-276

The sequence of this isoform differs from the canonical sequence as follows:
     1704-1727: Missing.

Note: May be due to exon skipping.Curated
Show »
Length:2,578
Mass (Da):275,668
Checksum:i4E51115028A676F8
GO
Isoform 3 (identifier: O75369-3) [UniParc]FASTAAdd to basket
Also known as: Var-1

The sequence of this isoform differs from the canonical sequence as follows:
     2081-2121: Missing.

Note: May be due to exon skipping.Curated
Show »
Length:2,561
Mass (Da):273,909
Checksum:iA367021E1BCF1EF1
GO
Isoform 7 (identifier: O75369-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-169: Missing.
     170-181: ALGALVDSCAPG → MQEHSTRRRSLS
     1717-1727: Missing.

Show »
Length:2,422
Mass (Da):257,551
Checksum:i8BB43D0D58E153B1
GO
Isoform 4 (identifier: O75369-4) [UniParc]FASTAAdd to basket
Also known as: Var-3

The sequence of this isoform differs from the canonical sequence as follows:
     2123-2150: EINSSDMSAHVTSPSGRVTEAEIVPMGK → GVRVMNCSAQILWGWRVQFHTGSRNQQQ
     2151-2602: Missing.

Show »
Length:2,150
Mass (Da):230,788
Checksum:iB1FDAE6F0E99947C
GO
Isoform 5 (identifier: O75369-5) [UniParc]FASTAAdd to basket
Also known as: Var-2

The sequence of this isoform differs from the canonical sequence as follows:
     2123-2146: EINSSDMSAHVTSPSGRVTEAEIV → GVRVMNCSAQILWGWRVQFHTGSR
     2147-2602: Missing.

Note: May be due to competing donor splice sites.Curated
Show »
Length:2,146
Mass (Da):230,289
Checksum:i0E99947C9734D59E
GO
Isoform 6 (identifier: O75369-6) [UniParc]FASTAAdd to basket
Also known as: Var-1-DeltaH1

The sequence of this isoform differs from the canonical sequence as follows:
     1704-1727: Missing.
     2081-2121: Missing.

Note: May be due to exon skipping.Curated
Show »
Length:2,537
Mass (Da):271,413
Checksum:iDABD7554C44F38DA
GO
Isoform 8 (identifier: O75369-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1463-1463: R → RADDTDSQSWRSPLKALSEFFKGDPKGDFNKT

Show »
Length:2,633
Mass (Da):281,635
Checksum:i8D8F7817049EECA1
GO
Isoform 9 (identifier: O75369-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1717-1727: Missing.

Show »
Length:2,591
Mass (Da):276,939
Checksum:i2D9AF6AF4D1469EF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EN95E7EN95_HUMAN
Filamin-B
FLNB
2,409Annotation score:

Annotation score:2 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>
H7C5L4H7C5L4_HUMAN
Filamin-B
FLNB
135Annotation score:

Annotation score:1 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>
A0A0C4DGA1A0A0C4DGA1_HUMAN
Filamin-B
FLNB
72Annotation score:

Annotation score:1 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>
A0A804HJC2A0A804HJC2_HUMAN
Filamin-B
FLNB
521Annotation score:

Annotation score:1 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>
A0A804HK76A0A804HK76_HUMAN
Filamin-B
FLNB
2,562Annotation score:

Annotation score:1 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>
A0A804HL72A0A804HL72_HUMAN
Filamin-B
FLNB
2,270Annotation score:

Annotation score:1 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>

<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 AAA35505 differs from that shown. Reason: Frameshift.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 conflicti816A → T in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti924Y → H in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti1411F → L in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti1560E → G in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti1953L → F in AAF97046 (PubMed:11153914).Curated1
Sequence conflicti2006K → R in AAC33845 (PubMed:9694715).Curated1
Sequence conflicti2099I → S in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti2170K → N in AAF97046 (PubMed:11153914).Curated1
Sequence conflicti2293M → V in AAF97046 (PubMed:11153914).Curated1
Sequence conflicti2293M → V in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti2354V → A in CAB70818 (PubMed:11230166).Curated1
Sequence conflicti2487S → C in AAA35505 (PubMed:8327473).Curated1
Sequence conflicti2571V → A in CAB70818 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033069161F → C in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356506EnsemblClinVar.1
Natural variantiVAR_033070168G → S in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356504EnsemblClinVar.1
Natural variantiVAR_033071171L → R in BOOMD. 1 PublicationCorresponds to variant dbSNP:rs80356494EnsemblClinVar.1
Natural variantiVAR_033072173A → V in AO1. 1 PublicationCorresponds to variant dbSNP:rs121908894EnsemblClinVar.1
Natural variantiVAR_033073188S → P in AO1. 1 Publication1
Natural variantiVAR_033074202M → V in AO1 and AO3. 1 PublicationCorresponds to variant dbSNP:rs121908895EnsemblClinVar.1
Natural variantiVAR_033075227E → K in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356508EnsemblClinVar.1
Natural variantiVAR_033076234L → V in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356507EnsemblClinVar.1
Natural variantiVAR_033077235S → P in BOOMD. 1 PublicationCorresponds to variant dbSNP:rs121908896EnsemblClinVar.1
Natural variantiVAR_033078361G → S in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356509EnsemblClinVar.1
Natural variantiVAR_033079363G → E in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356510EnsemblClinVar.1
Natural variantiVAR_035917566R → Q in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs150747960EnsemblClinVar.1
Natural variantiVAR_035918663N → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035919703T → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_033080751G → R in AO3. 1 PublicationCorresponds to variant dbSNP:rs28937587EnsemblClinVar.1
Natural variantiVAR_0171821018V → M. Corresponds to variant dbSNP:rs2276742EnsemblClinVar.1
Natural variantiVAR_0171831157D → N3 PublicationsCorresponds to variant dbSNP:rs1131356EnsemblClinVar.1
Natural variantiVAR_0313921179E → K. Corresponds to variant dbSNP:rs17058845EnsemblClinVar.1
Natural variantiVAR_0330811431L → R in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356511EnsemblClinVar.1
Natural variantiVAR_0313931471V → M3 PublicationsCorresponds to variant dbSNP:rs12632456EnsemblClinVar.1
Natural variantiVAR_0359201534A → G in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0330821571Missing in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356512Ensembl.1
Natural variantiVAR_0330831586G → R in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356513EnsemblClinVar.1
Natural variantiVAR_0330841592V → D in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356514EnsemblClinVar.1
Natural variantiVAR_0330851603P → L in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356515EnsemblClinVar.1
Natural variantiVAR_0330861691G → S in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356503EnsemblClinVar.1
Natural variantiVAR_0330871834G → R in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356516EnsemblClinVar.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_0241131 – 169Missing in isoform 7. 1 PublicationAdd BLAST169
Alternative sequenceiVSP_024114170 – 181ALGAL…SCAPG → MQEHSTRRRSLS in isoform 7. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_0434461463R → RADDTDSQSWRSPLKALSEF FKGDPKGDFNKT in isoform 8. 2 Publications1
Alternative sequenceiVSP_0087731704 – 1727Missing in isoform 2 and isoform 6. 3 PublicationsAdd BLAST24
Alternative sequenceiVSP_0241151717 – 1727Missing in isoform 7 and isoform 9. 3 PublicationsAdd BLAST11
Alternative sequenceiVSP_0087742081 – 2121Missing in isoform 3 and isoform 6. CuratedAdd BLAST41
Alternative sequenceiVSP_0087752123 – 2150EINSS…VPMGK → GVRVMNCSAQILWGWRVQFH TGSRNQQQ in isoform 4. CuratedAdd BLAST28
Alternative sequenceiVSP_0087772123 – 2146EINSS…EAEIV → GVRVMNCSAQILWGWRVQFH TGSR in isoform 5. CuratedAdd BLAST24
Alternative sequenceiVSP_0087782147 – 2602Missing in isoform 5. CuratedAdd BLAST456
Alternative sequenceiVSP_0087762151 – 2602Missing in isoform 4. CuratedAdd BLAST452

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
AF042166 mRNA Translation: AAC39842.1
AF043045 mRNA Translation: AAC33845.1
AF353666 mRNA Translation: AAL68439.1
AF353667 Genomic DNA Translation: AAL68440.1
AF353667 Genomic DNA Translation: AAL68441.1
AF353667 Genomic DNA Translation: AAL68442.1
AF353667 Genomic DNA Translation: AAL68443.1
AF191633 AF191632 Genomic DNA Translation: AAF72339.1
AF238609 mRNA Translation: AAF97046.1
AB371580 mRNA Translation: BAG48309.1
AB371581 mRNA Translation: BAG48310.1
AB371582 mRNA Translation: BAG48311.1
AB191258 mRNA Translation: BAD52434.1
BX641085 mRNA Translation: CAE46040.1
AC114399 Genomic DNA No translation available.
AC137936 Genomic DNA No translation available.
AL137574 mRNA Translation: CAB70818.1
AB209889 mRNA Translation: BAD93126.1
M62994 mRNA Translation: AAA35505.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2885.1 [O75369-1]
CCDS54599.1 [O75369-8]
CCDS54600.1 [O75369-9]
CCDS54601.1 [O75369-2]

Protein sequence database of the Protein Information Resource

More...PIRi		T46270

NCBI Reference Sequences

More...RefSeqi		NP_001157789.1, NM_001164317.1 [O75369-8]
NP_001157790.1, NM_001164318.1 [O75369-9]
NP_001157791.1, NM_001164319.1 [O75369-2]
NP_001448.2, NM_001457.3 [O75369-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000295956; ENSP00000295956; ENSG00000136068
ENST00000358537; ENSP00000351339; ENSG00000136068 [O75369-2]
ENST00000429972; ENSP00000415599; ENSG00000136068 [O75369-9]
ENST00000490882; ENSP00000420213; ENSG00000136068 [O75369-8]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2317

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2317

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000295956.9; ENSP00000295956.5; NM_001457.4; NP_001448.2

UCSC genome browser

More...UCSCi		uc003djj.3, human [O75369-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF042166 mRNA Translation: AAC39842.1
AF043045 mRNA Translation: AAC33845.1
AF353666 mRNA Translation: AAL68439.1
AF353667 Genomic DNA Translation: AAL68440.1
AF353667 Genomic DNA Translation: AAL68441.1
AF353667 Genomic DNA Translation: AAL68442.1
AF353667 Genomic DNA Translation: AAL68443.1
AF191633 AF191632 Genomic DNA Translation: AAF72339.1
AF238609 mRNA Translation: AAF97046.1
AB371580 mRNA Translation: BAG48309.1
AB371581 mRNA Translation: BAG48310.1
AB371582 mRNA Translation: BAG48311.1
AB191258 mRNA Translation: BAD52434.1
BX641085 mRNA Translation: CAE46040.1
AC114399 Genomic DNA No translation available.
AC137936 Genomic DNA No translation available.
AL137574 mRNA Translation: CAB70818.1
AB209889 mRNA Translation: BAD93126.1
M62994 mRNA Translation: AAA35505.1 Frameshift.
CCDSiCCDS2885.1 [O75369-1]
CCDS54599.1 [O75369-8]
CCDS54600.1 [O75369-9]
CCDS54601.1 [O75369-2]
PIRiT46270
RefSeqiNP_001157789.1, NM_001164317.1 [O75369-8]
NP_001157790.1, NM_001164318.1 [O75369-9]
NP_001157791.1, NM_001164319.1 [O75369-2]
NP_001448.2, NM_001457.3 [O75369-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DI8NMR-A1999-2096[»]
2DI9NMR-A1017-1134[»]
2DIANMR-A1130-1229[»]
2DIBNMR-A1215-1329[»]
2DICNMR-A1325-1422[»]
2DJ4NMR-A1418-1518[»]
2DLGNMR-A2104-2192[»]
2DMBNMR-A1611-1721[»]
2DMCNMR-A1899-2001[»]
2E9INMR-A2094-2192[»]
2E9JNMR-A1504-1615[»]
2EE6NMR-A2190-2287[»]
2EE9NMR-A1736-1823[»]
2EEANMR-A1808-1915[»]
2EEBNMR-A2284-2382[»]
2EECNMR-A2371-2488[»]
2EEDNMR-A2509-2602[»]
2WA5X-ray1.90A2-242[»]
2WA6X-ray1.95A2-242[»]
2WA7X-ray1.85A2-242[»]
3FERX-ray2.40A/B/C/D1-252[»]
4B7LX-ray2.05A/B1-347[»]
5DCPX-ray2.49A/B1737-1911[»]
SMRiO75369
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108606, 173 interactors
IntActiO75369, 71 interactors
MINTiO75369
STRINGi9606.ENSP00000420213

Chemistry databases

ChEMBLiCHEMBL4295677

Protein family/group databases

TCDBi8.A.66.1.5, the dystrophin (dystrophin) family

PTM databases

CarbonylDBiO75369
GlyConnecti2041, 2 N-Linked glycans (1 site)
GlyGeniO75369, 5 sites, 4 N-linked glycans (1 site), 1 O-linked glycan (4 sites)
iPTMnetiO75369
MetOSiteiO75369
PhosphoSitePlusiO75369
SwissPalmiO75369

Genetic variation databases

BioMutaiFLNB

Proteomic databases

CPTACiCPTAC-511
EPDiO75369
jPOSTiO75369
MassIVEiO75369
MaxQBiO75369
PaxDbiO75369
PeptideAtlasiO75369
PRIDEiO75369
ProteomicsDBi49938 [O75369-1]
49939 [O75369-2]
49940 [O75369-3]
49941 [O75369-4]
49942 [O75369-5]
49943 [O75369-6]
49944 [O75369-7]
49945 [O75369-8]
49946 [O75369-9]
75100

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		O75369, 2 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1496, 271 antibodies from 32 providers

The DNASU plasmid repository

More...DNASUi		2317

Genome annotation databases

EnsembliENST00000295956; ENSP00000295956; ENSG00000136068
ENST00000358537; ENSP00000351339; ENSG00000136068 [O75369-2]
ENST00000429972; ENSP00000415599; ENSG00000136068 [O75369-9]
ENST00000490882; ENSP00000420213; ENSG00000136068 [O75369-8]
GeneIDi2317
KEGGihsa:2317
MANE-SelectiENST00000295956.9; ENSP00000295956.5; NM_001457.4; NP_001448.2
UCSCiuc003djj.3, human [O75369-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2317
DisGeNETi2317

GeneCards: human genes, protein and diseases

More...GeneCardsi		FLNB
GeneReviewsiFLNB
HGNCiHGNC:3755, FLNB
HPAiENSG00000136068, Low tissue specificity
MalaCardsiFLNB
MIMi108720, phenotype
108721, phenotype
112310, phenotype
150250, phenotype
272460, phenotype
603381, gene
neXtProtiNX_O75369
OpenTargetsiENSG00000136068
Orphaneti1190, Atelosteogenesis type I
56305, Atelosteogenesis type III
1263, Boomerang dysplasia
503, Larsen syndrome
3275, Spondylocarpotarsal synostosis
PharmGKBiPA28173
VEuPathDBiHostDB:ENSG00000136068

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0518, Eukaryota
GeneTreeiENSGT00940000156286
HOGENOMiCLU_000783_0_0_1
InParanoidiO75369
OMAiKRMANNH
OrthoDBi35998at2759
PhylomeDBiO75369
TreeFamiTF313685

Enzyme and pathway databases

PathwayCommonsiO75369
ReactomeiR-HSA-1169408, ISG15 antiviral mechanism
SignaLinkiO75369
SIGNORiO75369

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2317, 8 hits in 1044 CRISPR screens

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

More...ChiTaRSi		FLNB, human
EvolutionaryTraceiO75369

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		FLNB

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

More...GenomeRNAii		2317
PharosiO75369, Tbio

Protein Ontology

More...PROi		PR:O75369
RNActiO75369, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136068, Expressed in tibial nerve and 238 other tissues
ExpressionAtlasiO75369, baseline and differential
GenevisibleiO75369, HS

Family and domain databases

CDDicd00014, CH, 2 hits
Gene3Di1.10.418.10, 2 hits
2.60.40.10, 24 hits
InterProiView protein in InterPro
IPR001589, Actinin_actin-bd_CS
IPR001715, CH-domain
IPR036872, CH_dom_sf
IPR044801, Filamin
IPR017868, Filamin/ABP280_repeat-like
IPR001298, Filamin/ABP280_rpt
IPR029874, FLNB
IPR013783, Ig-like_fold
IPR014756, Ig_E-set
PANTHERi