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UniProtKB - P51114 (FXR1_HUMAN)

Entry version 206 (02 Jun 2021)
Sequence version 3 (20 May 2008)
Previous versions | rss
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Protein

Fragile X mental retardation syndrome-related protein 1

Gene

FXR1

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

RNA-binding protein required for embryonic and postnatal development of muscle tissue (PubMed:30770808).

May regulate intracellular transport and local translation of certain mRNAs (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 functionDevelopmental protein, RNA-binding
Biological processDifferentiation, Myogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P51114

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6802952, Signaling by BRAF and RAF fusions

<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:
Fragile X mental retardation syndrome-related protein 1
Short name:
hFXR1p
<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:FXR1
<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:4023, FXR1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600819, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P51114

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000114416.17

<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

<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

Myopathy, congenital, with respiratory insufficiency and bone fractures (MYORIBF)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive muscular disorder characterized by severe hypotonia apparent at birth, poor feeding, ulnar deviation of the hands, laterally deviated feet, fractures of the long bones, respiratory insufficiency due to muscle weakness, and death in infancy.
Related information in OMIM
Myopathy, congenital proximal, with minicore lesions (MYOPMIL)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, slowly progressive muscular disorder characterized by primarily proximal muscle weakness, neonatal hypotonia leading to delayed motor development, mildly delayed walking in childhood, and difficulty running or climbing. Cardiac function is unaffected, but most patients have obstructive sleep apnea. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and minicores that disrupt the myofibrillar striation pattern.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		8087

MalaCards human disease database

More...MalaCardsi		FXR1
MIMi618822, phenotype
618823, phenotype

Open Targets

More...OpenTargetsi		ENSG00000114416

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28439

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P51114, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3879858

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FXR1

Domain mapping of disease mutations (DMDM)

More...DMDMi		189047132

<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 methionineiRemovedCombined sources1 Publication
<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_00000501062 – 621Fragile X mental retardation syndrome-related protein 1Add BLAST620

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-acetylalanineCombined sources1 Publication1
<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-linki56Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei68PhosphotyrosineBy similarity1
Modified residuei401PhosphothreonineCombined sources1
Modified residuei403PhosphoserineBy similarity1
Modified residuei406PhosphoserineCombined sources1
Modified residuei409PhosphoserineCombined sources1
Modified residuei420PhosphoserineCombined sources1
Modified residuei423PhosphoserineCombined sources1
Modified residuei432PhosphoserineCombined sources1
Modified residuei447Asymmetric dimethylarginine; alternateBy similarity1
Modified residuei447Omega-N-methylarginine; alternateBy similarity1
Modified residuei453Asymmetric dimethylarginine; alternateBy similarity1
Modified residuei453Omega-N-methylarginine; alternateBy similarity1
Modified residuei455Asymmetric dimethylarginine; alternateBy similarity1
Modified residuei455Omega-N-methylarginine; alternateBy similarity1
Modified residuei483PhosphothreonineBy similarity1
Modified residuei485PhosphoserineCombined sources1
Modified residuei524PhosphoserineBy similarity1
Modified residuei587PhosphoserineCombined sources1
Modified residuei611PhosphothreonineCombined sources1
Isoform 2 (identifier: P51114-2)
Modified residuei524PhosphoserineCombined sources1
Modified residuei528PhosphoserineCombined 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

Arg-445 is dimethylated, probably to asymmetric dimethylarginine.

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P51114

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P51114

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P51114

MaxQB - The MaxQuant DataBase

More...MaxQBi		P51114

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

More...PaxDbi		P51114

PeptideAtlas

More...PeptideAtlasi		P51114

PRoteomics IDEntifications database

More...PRIDEi		P51114

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56278 [P51114-1]
56279 [P51114-2]
56280 [P51114-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P51114

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P51114

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

More...PhosphoSitePlusi		P51114

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P51114

<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

Expressed in all tissues examined including heart, brain, kidney and testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000114416, Expressed in testis and 245 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P51114, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P51114, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000114416, Tissue enriched (skeletal)

<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

Interacts with FMR1 (PubMed:8668200, PubMed:7489725, PubMed:11157796).

Interacts with FRX2 (PubMed:7489725).

Interacts with TDRD3 (PubMed:18664458).

Interacts with HABP4 (PubMed:21771594).

Interacts with CYFIP2 but not with CYFIP1 (By similarity).

By similarity5 Publications

(Microbial infection) Interacts with Sindbis virus non-structural protein 3 (via C-terminus); this interaction inhibits the formation of host stress granules on viral mRNAs and the nsp3-FXR1 complexes bind viral RNAs and probably orchestrate the assembly of viral replication complexes.

1 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

P51114
With#Exp.IntAct
ANKRD40 [Q6AI12]2EBI-713291,EBI-2838246
AP2M1 [Q96CW1]2EBI-713291,EBI-297683
CDYL [Q9Y232]2EBI-713291,EBI-1387386
CEP72 [Q9P209]2EBI-713291,EBI-739498
EML1 [O00423]2EBI-713291,EBI-751327
FLNA [P21333]2EBI-713291,EBI-350432
FMR1 [Q06787]4EBI-713291,EBI-366305
FXR2 [P51116]3EBI-713291,EBI-740459
KAZN [Q674X7]2EBI-713291,EBI-949239
KCTD13 [Q8WZ19]2EBI-713291,EBI-742916
NONO [Q15233]2EBI-713291,EBI-350527
PHLDB1 [Q86UU1]2EBI-713291,EBI-4289858
RABAC1 [Q9UI14]2EBI-713291,EBI-712367
TP53 [P04637]2EBI-713291,EBI-366083
TUBB [P07437]2EBI-713291,EBI-350864
Isoform 2 [P51114-2]
With#Exp.IntAct
AP1M1 [Q9BXS5]5EBI-11022345,EBI-541426
BLK [P51451]3EBI-11022345,EBI-2105445
BYSL [Q13895]3EBI-11022345,EBI-358049
CBX8 [Q9HC52]3EBI-11022345,EBI-712912
CDC7 [O00311]3EBI-11022345,EBI-374980
CDK18 [Q07002]3EBI-11022345,EBI-746238
CDKL3 [Q8IVW4]3EBI-11022345,EBI-3919850
CWF19L2 [Q2TBE0]3EBI-11022345,EBI-5453285
DDX6 [P26196]3EBI-11022345,EBI-351257
DHX15 [O43143]3EBI-11022345,EBI-1237044
ELOA [Q14241]3EBI-11022345,EBI-742350
ERCC3 [P19447]3EBI-11022345,EBI-1183307
ESCO2 [Q56NI9]3EBI-11022345,EBI-3951849
FAM161A [Q3B820]3EBI-11022345,EBI-719941
FAM90A1 [Q86YD7]3EBI-11022345,EBI-6658203
FMR1 [Q8IXW7]3EBI-11022345,EBI-11976595
GAS2L2 [Q8NHY3]3EBI-11022345,EBI-7960826
KIF9 [Q9HAQ2]3EBI-11022345,EBI-8472129
LNX1 [Q8TBB1]3EBI-11022345,EBI-739832
MAGOH [P61326]3EBI-11022345,EBI-299134
MAGOHB [Q96A72]3EBI-11022345,EBI-746778
MCRS1 [Q96EZ8]3EBI-11022345,EBI-348259
MFAP1 [P55081]3EBI-11022345,EBI-1048159
MGC50722 [Q8IVT4]3EBI-11022345,EBI-14086479
MMTAG2 [Q9BU76]5EBI-11022345,EBI-742459
PPHLN1 - isoform 5 [Q8NEY8-5]3EBI-11022345,EBI-22734102
PRAM1 [Q96QH2]3EBI-11022345,EBI-2860740
PRPF18 [Q99633]3EBI-11022345,EBI-2798416
PRPF31 [Q8WWY3]3EBI-11022345,EBI-1567797
SRPK2 [P78362]3EBI-11022345,EBI-593303
STK16 [O75716]3EBI-11022345,EBI-749295
SUFU [Q9UMX1]3EBI-11022345,EBI-740595
SYT6 - isoform 2 [Q5T7P8-2]3EBI-11022345,EBI-10246152
TBC1D22B [Q9NU19]3EBI-11022345,EBI-8787464
TCEA2 [Q15560]3EBI-11022345,EBI-710310
TRPM1 - isoform 7 [Q7Z4N2-7]3EBI-11022345,EBI-12371223
UBAP2L [Q14157]3EBI-11022345,EBI-347762
YES1 [P07947]3EBI-11022345,EBI-515331
ZMAT2 [Q96NC0]3EBI-11022345,EBI-2682299
ZNF417 [Q8TAU3]3EBI-11022345,EBI-740727
ZNF438 [Q7Z4V0]3EBI-11022345,EBI-11962468
ZNF71 [Q9NQZ8]3EBI-11022345,EBI-7138235

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113760, 263 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P51114

Database of interacting proteins

More...DIPi		DIP-40789N

Protein interaction database and analysis system

More...IntActi		P51114, 330 interactors

Molecular INTeraction database

More...MINTi		P51114

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000350170

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P51114, 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

1621
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		P51114

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		P51114

<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>Domaini4 – 50Agenet-like 1PROSITE-ProRule annotationAdd BLAST47
Domaini63 – 115Agenet-like 2PROSITE-ProRule annotationAdd BLAST53
Domaini222 – 251KH 1PROSITE-ProRule annotationAdd BLAST30
Domaini285 – 314KH 2PROSITE-ProRule annotationAdd BLAST30

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>Regioni381 – 530DisorderedSequence analysisAdd BLAST150
Regioni442 – 457RNA-binding RGG-boxAdd BLAST16
Regioni545 – 621DisorderedSequence analysisAdd BLAST77

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi409 – 444Basic and acidic residuesSequence analysisAdd BLAST36
Compositional biasi467 – 489Polar residuesSequence analysisAdd BLAST23
Compositional biasi555 – 575Basic and acidic residuesSequence analysisAdd BLAST21
Compositional biasi594 – 608Basic and acidic residuesSequence analysisAdd BLAST15

<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

The tandem Agenet-like domains preferentially recognize trimethylated histone peptides.1 Publication

<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 FMR1 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QPKJ, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183189

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_020699_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P51114

Identification of Orthologs from Complete Genome Data

More...OMAi		NERETCG

Database for complete collections of gene phylogenies

More...PhylomeDBi		P51114

TreeFam database of animal gene trees

More...TreeFami		TF105427

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.1370.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008395, Agenet-like_dom
IPR040148, FMR1
IPR040472, FMRP_KH0
IPR022034, FXMRP1_C_core
IPR032172, FXR_C1
IPR032177, FXR_C3
IPR004087, KH_dom
IPR004088, KH_dom_type_1
IPR036612, KH_dom_type_1_sf
IPR041560, Tudor_FRX1

The PANTHER Classification System

More...PANTHERi		PTHR10603, PTHR10603, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05641, Agenet, 1 hit
PF12235, FXMRP1_C_core, 2 hits
PF16096, FXR_C1, 1 hit
PF16097, FXR_C3, 1 hit
PF00013, KH_1, 1 hit
PF17904, KH_9, 1 hit
PF18336, Tudor_FRX1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00322, KH, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54791, SSF54791, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51641, AGENET_LIKE, 2 hits
PS50084, KH_TYPE_1, 2 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 (3+)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.

<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.

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
Note: Alternative splicing appears to be tissue-specific.

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51114-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MAELTVEVRG SNGAFYKGFI KDVHEDSLTV VFENNWQPER QVPFNEVRLP 
        60         70         80         90        100
PPPDIKKEIS EGDEVEVYSR ANDQEPCGWW LAKVRMMKGE FYVIEYAACD 
       110        120        130        140        150
ATYNEIVTFE RLRPVNQNKT VKKNTFFKCT VDVPEDLREA CANENAHKDF 
       160        170        180        190        200
KKAVGACRIF YHPETTQLMI LSASEATVKR VNILSDMHLR SIRTKLMLMS 
       210        220        230        240        250
RNEEATKHLE CTKQLAAAFH EEFVVREDLM GLAIGTHGSN IQQARKVPGV 
       260        270        280        290        300
TAIELDEDTG TFRIYGESAD AVKKARGFLE FVEDFIQVPR NLVGKVIGKN 
       310        320        330        340        350
GKVIQEIVDK SGVVRVRIEG DNENKLPRED GMVPFVFVGT KESIGNVQVL 
       360        370        380        390        400
LEYHIAYLKE VEQLRMERLQ IDEQLRQIGS RSYSGRGRGR RGPNYTSGYG 
       410        420        430        440        450
TNSELSNPSE TESERKDELS DWSLAGEDDR DSRHQRDSRR RPGGRGRSVS 
       460        470        480        490        500
GGRGRGGPRG GKSSISSVLK DPDSNPYSLL DNTESDQTAD TDASESHHST 
       510        520        530        540        550
NRRRRSRRRR TDEDAVLMDG MTESDTASVN ENGLVTVADY ISRAESQSRQ 
       560        570        580        590        600
RNLPRETLAK NKKEMAKDVI EEHGPSEKAI NGPTSASGDD ISKLQRTPGE 
       610        620 
EKINTLKEEN TQEAAVLNGV S
Length:621
Mass (Da):69,721
Last modified:May 20, 2008 - 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:i0474A9B593C7C228
GO
Isoform 2 (identifier: P51114-2) [UniParc]FASTAAdd to basket
Also known as: b, Short

The sequence of this isoform differs from the canonical sequence as follows:
     535-539: VTVAD → GKRCD
     540-621: Missing.

Show »
Length:539
Mass (Da):60,792
Checksum:i7D9452D150FC9EE7
GO
Isoform 3 (identifier: P51114-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-85: Missing.

Show »
Length:536
Mass (Da):59,920
Checksum:i4E66F53C3A15BFF8
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DXZ6B4DXZ6_HUMAN
Fragile X mental retardation syndro...
FXR1
608Annotation 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>
E7EU85E7EU85_HUMAN
Fragile X mental retardation syndro...
FXR1
454Annotation 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>
E9PFF5E9PFF5_HUMAN
Fragile X mental retardation syndro...
FXR1
490Annotation 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>
H7C4S4H7C4S4_HUMAN
Fragile X mental retardation syndro...
FXR1
246Annotation 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>
C9JAJ4C9JAJ4_HUMAN
Fragile X mental retardation syndro...
FXR1
151Annotation 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>
C9JY20C9JY20_HUMAN
Fragile X mental retardation syndro...
FXR1
123Annotation 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>
C9IZ22C9IZ22_HUMAN
Fragile X mental retardation syndro...
FXR1
94Annotation 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>
C9J5B4C9J5B4_HUMAN
Fragile X mental retardation syndro...
FXR1
75Annotation 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>
C9JZE0C9JZE0_HUMAN
Fragile X mental retardation syndro...
FXR1
119Annotation 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>
C9JYQ6C9JYQ6_HUMAN
Fragile X mental retardation syndro...
FXR1
19Annotation 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>

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 conflicti3 – 4EL → DV in AAC50155 (PubMed:7781595).Curated2
Sequence conflicti27S → P in BAF85322 (PubMed:14702039).Curated1

Natural variant

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_036050233A → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_016077429D → N1 PublicationCorresponds to variant dbSNP:rs1051080Ensembl.1
Natural variantiVAR_014890614A → V. Corresponds to variant dbSNP:rs11499Ensembl.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_0197091 – 85Missing in isoform 3. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_019710535 – 539VTVAD → GKRCD in isoform 2. 2 Publications5
Alternative sequenceiVSP_019711540 – 621Missing in isoform 2. 2 PublicationsAdd BLAST82

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
U25165 mRNA Translation: AAC50155.1
AY341428 mRNA Translation: AAQ20045.1
AK292633 mRNA Translation: BAF85322.1
BC028983 mRNA Translation: AAH28983.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3238.1 [P51114-1]
CCDS33894.1 [P51114-3]
CCDS46965.1 [P51114-2]

Protein sequence database of the Protein Information Resource

More...PIRi		S55330

NCBI Reference Sequences

More...RefSeqi		NP_001013456.1, NM_001013438.2 [P51114-2]
NP_001013457.1, NM_001013439.2 [P51114-3]
NP_005078.2, NM_005087.3 [P51114-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000305586; ENSP00000307633; ENSG00000114416 [P51114-3]
ENST00000357559; ENSP00000350170; ENSG00000114416 [P51114-1]
ENST00000445140; ENSP00000388828; ENSG00000114416 [P51114-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8087

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8087

UCSC genome browser

More...UCSCi		uc003fkp.4, human [P51114-1]

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
U25165 mRNA Translation: AAC50155.1
AY341428 mRNA Translation: AAQ20045.1
AK292633 mRNA Translation: BAF85322.1
BC028983 mRNA Translation: AAH28983.1
CCDSiCCDS3238.1 [P51114-1]
CCDS33894.1 [P51114-3]
CCDS46965.1 [P51114-2]
PIRiS55330
RefSeqiNP_001013456.1, NM_001013438.2 [P51114-2]
NP_001013457.1, NM_001013439.2 [P51114-3]
NP_005078.2, NM_005087.3 [P51114-1]

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
2CPQNMR-A212-289[»]
3KUFX-ray2.70A2-132[»]
3O8VX-ray2.50A2-132[»]
SMRiP51114
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi113760, 263 interactors
CORUMiP51114
DIPiDIP-40789N
IntActiP51114, 330 interactors
MINTiP51114
STRINGi9606.ENSP00000350170

Chemistry databases

ChEMBLiCHEMBL3879858

PTM databases

iPTMnetiP51114
MetOSiteiP51114
PhosphoSitePlusiP51114
SwissPalmiP51114

Genetic variation databases

BioMutaiFXR1
DMDMi189047132

Proteomic databases

EPDiP51114
jPOSTiP51114
MassIVEiP51114
MaxQBiP51114
PaxDbiP51114
PeptideAtlasiP51114
PRIDEiP51114
ProteomicsDBi56278 [P51114-1]
56279 [P51114-2]
56280 [P51114-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		18845, 337 antibodies

The DNASU plasmid repository

More...DNASUi		8087

Genome annotation databases

EnsembliENST00000305586; ENSP00000307633; ENSG00000114416 [P51114-3]
ENST00000357559; ENSP00000350170; ENSG00000114416 [P51114-1]
ENST00000445140; ENSP00000388828; ENSG00000114416 [P51114-2]
GeneIDi8087
KEGGihsa:8087
UCSCiuc003fkp.4, human [P51114-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8087
DisGeNETi8087

GeneCards: human genes, protein and diseases

More...GeneCardsi		FXR1
HGNCiHGNC:4023, FXR1
HPAiENSG00000114416, Tissue enriched (skeletal)
MalaCardsiFXR1
MIMi600819, gene
618822, phenotype
618823, phenotype
neXtProtiNX_P51114
OpenTargetsiENSG00000114416
PharmGKBiPA28439
VEuPathDBiHostDB:ENSG00000114416.17

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QPKJ, Eukaryota
GeneTreeiENSGT00950000183189
HOGENOMiCLU_020699_3_0_1
InParanoidiP51114
OMAiNERETCG
PhylomeDBiP51114
TreeFamiTF105427

Enzyme and pathway databases

PathwayCommonsiP51114
ReactomeiR-HSA-6802952, Signaling by BRAF and RAF fusions

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8087, 11 hits in 1001 CRISPR screens

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

More...ChiTaRSi		FXR1, human
EvolutionaryTraceiP51114

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		FXR1

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

More...GenomeRNAii		8087
PharosiP51114, Tbio

Protein Ontology

More...PROi		PR:P51114
RNActiP51114, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000114416, Expressed in testis and 245 other tissues
ExpressionAtlasiP51114, baseline and differential
GenevisibleiP51114, HS

Family and domain databases

Gene3Di3.30.1370.10, 2 hits
InterProiView protein in InterPro
IPR008395, Agenet-like_dom
IPR040148, FMR1
IPR040472, FMRP_KH0
IPR022034, FXMRP1_C_core
IPR032172, FXR_C1
IPR032177, FXR_C3
IPR004087, KH_dom
IPR004088, KH_dom_type_1
IPR036612, KH_dom_type_1_sf
IPR041560, Tudor_FRX1
PANTHERiPTHR10603, PTHR10603, 2 hits
PfamiView protein in Pfam
PF05641, Agenet, 1 hit
PF12235, FXMRP1_C_core, 2 hits
PF16096, FXR_C1, 1 hit
PF16097, FXR_C3, 1 hit
PF00013, KH_1, 1 hit
PF17904, KH_9, 1 hit
PF18336, Tudor_FRX1, 1 hit
SMARTiView protein in SMART
SM00322, KH, 2 hits
SUPFAMiSSF54791, SSF54791, 2 hits
PROSITEiView protein in PROSITE
PS51641, AGENET_LIKE, 2 hits
PS50084, KH_TYPE_1, 2 hits

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 nameiFXR1_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: P51114
Secondary accession number(s): A8K9B8, Q7Z450, Q8N6R8
<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: October 1, 1996
Last sequence update: May 20, 2008
Last modified: June 2, 2021
This is version 206 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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