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Entry version 192 (03 Jul 2019)
Sequence version 3 (20 May 2008)
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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. May regulate intracellular transport and local translation of certain mRNAs (By similarity).By similarity

<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

GO - Biological processi

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

Molecular functionDevelopmental protein, RNA-binding
Biological processDifferentiation, Myogenesis

Enzyme and pathway databases

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_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fragile X mental retardation syndrome-related protein 1
Short name:
hFXR1p
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FXR1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 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

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

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

Keywords - Cellular componenti

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
8087

Open Targets

More...
OpenTargetsi
ENSG00000114416

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28439

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3879858

Polymorphism and mutation 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_processing_section">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.<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_processing_section">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 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_processing_section">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, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P51114

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
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

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PRIDEi
P51114

ProteomicsDB human proteome resource

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

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
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 232 organ(s), highest expression level in testis

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
HPA018246
HPA055475

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

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

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
113760, 98 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P51114

Database of interacting proteins

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DIPi
DIP-40789N

Protein interaction database and analysis system

More...
IntActi
P51114, 92 interactors

Molecular INTeraction database

More...
MINTi
P51114

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000350170

<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

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SMRi
P51114

Database of comparative protein structure models

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ModBasei
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_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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>Regioni442 – 457RNA-binding RGG-boxAdd BLAST16

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi50 – 53Poly-Pro4
Compositional biasi502 – 510Poly-Arg9

<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

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eggNOGi
ENOG410IF9J Eukaryota
ENOG410ZDJG LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000183189

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000293377

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P51114

KEGG Orthology (KO)

More...
KOi
K15516

Identification of Orthologs from Complete Genome Data

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OMAi
DACANEN

Database of Orthologous Groups

More...
OrthoDBi
374073at2759

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

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PANTHERi
PTHR10603 PTHR10603, 1 hit

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

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

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is 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.

Note: No experimental confirmation available.
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
E7EU85E7EU85_HUMAN
Fragile X mental retardation syndro...
FXR1
454Annotation 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>
B4DXZ6B4DXZ6_HUMAN
Fragile X mental retardation syndro...
FXR1
608Annotation 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>
E9PFF5E9PFF5_HUMAN
Fragile X mental retardation syndro...
FXR1
490Annotation 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>
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>
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>
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>
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>
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

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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

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GeneIDi
8087

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8087

UCSC genome browser

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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

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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...

Protein-protein interaction databases

BioGridi113760, 98 interactors
CORUMiP51114
DIPiDIP-40789N
IntActiP51114, 92 interactors
MINTiP51114
STRINGi9606.ENSP00000350170

Chemistry databases

ChEMBLiCHEMBL3879858

PTM databases

iPTMnetiP51114
PhosphoSitePlusiP51114
SwissPalmiP51114

Polymorphism and mutation databases

BioMutaiFXR1
DMDMi189047132

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
8087
Structural Biology KnowledgebaseSearch...

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
HPAiHPA018246
HPA055475
MIMi600819 gene
neXtProtiNX_P51114
OpenTargetsiENSG00000114416
PharmGKBiPA28439

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF9J Eukaryota
ENOG410ZDJG LUCA
GeneTreeiENSGT00950000183189
HOGENOMiHOG000293377
InParanoidiP51114
KOiK15516
OMAiDACANEN
OrthoDBi374073at2759
PhylomeDBiP51114
TreeFamiTF105427

Enzyme and pathway databases

ReactomeiR-HSA-6802952 Signaling by BRAF and RAF fusions

Miscellaneous databases

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

Protein Ontology

More...
PROi
PR:P51114

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000114416 Expressed in 232 organ(s), highest expression level in testis
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, 1 hit
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry 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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 20, 2008
Last modified: July 3, 2019
This is version 192 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

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