UniProtKB - P51114 (FXR1_HUMAN)
Fragile X mental retardation syndrome-related protein 1
FXR1
Functioni
GO - Molecular functioni
- mRNA 3'-UTR binding Source: GO_Central
- mRNA binding Source: GO_Central
- protein heterodimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- RNA binding Source: UniProtKB
- RNA strand annealing activity Source: UniProtKB
- translation regulator activity Source: GO_Central
GO - Biological processi
- apoptotic process Source: ProtInc
- cell differentiation Source: UniProtKB-KW
- muscle organ development Source: UniProtKB
- negative regulation of translation Source: GO_Central
- positive regulation of gene silencing by miRNA Source: UniProtKB
- positive regulation of protein phosphorylation Source: GO_Central
- positive regulation of response to DNA damage stimulus Source: GO_Central
- positive regulation of translation Source: GO_Central
- regulation of alternative mRNA splicing, via spliceosome Source: GO_Central
- regulation of filopodium assembly Source: GO_Central
- regulation of mRNA stability Source: GO_Central
Keywordsi
Molecular function | Developmental protein, RNA-binding |
Biological process | Differentiation, Myogenesis |
Enzyme and pathway databases
PathwayCommonsi | P51114 |
Reactomei | R-HSA-6802952, Signaling by BRAF and RAF fusions |
Names & Taxonomyi
Protein namesi | Recommended name: Fragile X mental retardation syndrome-related protein 1Short name: hFXR1p |
Gene namesi | Name:FXR1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000114416.17 |
HGNCi | HGNC:4023, FXR1 |
MIMi | 600819, gene |
neXtProti | NX_P51114 |
Subcellular locationi
Other locations
- Cytoplasm 1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
Other locations
- axon Source: GO_Central
- costamere Source: Ensembl
- cytoplasm Source: UniProtKB
- cytoplasmic ribonucleoprotein granule Source: GO_Central
- dendritic filopodium Source: GO_Central
- dendritic spine Source: GO_Central
- dendritic spine neck Source: GO_Central
- glutamatergic synapse Source: Ensembl
- growth cone Source: GO_Central
- membrane Source: UniProtKB
- neuronal cell body Source: GO_Central
- perinuclear region of cytoplasm Source: Ensembl
- polysome Source: GO_Central
- postsynaptic density Source: GO_Central
- presynapse Source: GO_Central
- ribonucleoprotein granule Source: GO_Central
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 8087 |
MalaCardsi | FXR1 |
OpenTargetsi | ENSG00000114416 |
PharmGKBi | PA28439 |
Miscellaneous databases
Pharosi | P51114, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3879858 |
Polymorphism and mutation databases
BioMutai | FXR1 |
DMDMi | 189047132 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources1 Publication | |||
ChainiPRO_0000050106 | 2 – 621 | Fragile X mental retardation syndrome-related protein 1Add BLAST | 620 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources1 Publication | 1 | ||
Cross-linki | 56 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Modified residuei | 68 | PhosphotyrosineBy similarity | 1 | ||
Modified residuei | 401 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 403 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 406 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 409 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 420 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 423 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 432 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 447 | Asymmetric dimethylarginine; alternateBy similarity | 1 | ||
Modified residuei | 447 | Omega-N-methylarginine; alternateBy similarity | 1 | ||
Modified residuei | 453 | Asymmetric dimethylarginine; alternateBy similarity | 1 | ||
Modified residuei | 453 | Omega-N-methylarginine; alternateBy similarity | 1 | ||
Modified residuei | 455 | Asymmetric dimethylarginine; alternateBy similarity | 1 | ||
Modified residuei | 455 | Omega-N-methylarginine; alternateBy similarity | 1 | ||
Modified residuei | 483 | PhosphothreonineBy similarity | 1 | ||
Modified residuei | 485 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 524 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 587 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 611 | PhosphothreonineCombined sources | 1 | ||
Isoform 2 (identifier: P51114-2) | |||||
Modified residuei | 524 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 528 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P51114 |
jPOSTi | P51114 |
MassIVEi | P51114 |
MaxQBi | P51114 |
PaxDbi | P51114 |
PeptideAtlasi | P51114 |
PRIDEi | P51114 |
ProteomicsDBi | 56278 [P51114-1] 56279 [P51114-2] 56280 [P51114-3] |
PTM databases
iPTMneti | P51114 |
MetOSitei | P51114 |
PhosphoSitePlusi | P51114 |
SwissPalmi | P51114 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000114416, Expressed in testis and 245 other tissues |
ExpressionAtlasi | P51114, baseline and differential |
Genevisiblei | P51114, HS |
Organism-specific databases
HPAi | ENSG00000114416, Tissue enriched (skeletal) |
Interactioni
Subunit structurei
(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 PublicationBinary interactionsi
Hide detailsIsoform 2 [P51114-2]
GO - Molecular functioni
- protein heterodimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 113760, 161 interactors |
CORUMi | P51114 |
DIPi | DIP-40789N |
IntActi | P51114, 113 interactors |
MINTi | P51114 |
STRINGi | 9606.ENSP00000350170 |
Miscellaneous databases
RNActi | P51114, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P51114 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P51114 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 4 – 50 | Agenet-like 1PROSITE-ProRule annotationAdd BLAST | 47 | |
Domaini | 63 – 115 | Agenet-like 2PROSITE-ProRule annotationAdd BLAST | 53 | |
Domaini | 222 – 251 | KH 1PROSITE-ProRule annotationAdd BLAST | 30 | |
Domaini | 285 – 314 | KH 2PROSITE-ProRule annotationAdd BLAST | 30 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 442 – 457 | RNA-binding RGG-boxAdd BLAST | 16 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 50 – 53 | Poly-Pro | 4 | |
Compositional biasi | 502 – 510 | Poly-Arg | 9 |
Domaini
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | ENOG502QPKJ, Eukaryota |
GeneTreei | ENSGT00950000183189 |
HOGENOMi | CLU_020699_3_0_1 |
InParanoidi | P51114 |
OMAi | NERETCG |
PhylomeDBi | P51114 |
TreeFami | TF105427 |
Family and domain databases
Gene3Di | 3.30.1370.10, 2 hits |
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 |
PANTHERi | PTHR10603, PTHR10603, 1 hit |
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 |
SMARTi | View protein in SMART SM00322, KH, 2 hits |
SUPFAMi | SSF54791, SSF54791, 2 hits |
PROSITEi | View protein in PROSITE PS51641, AGENET_LIKE, 2 hits PS50084, KH_TYPE_1, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB4DXZ6 | B4DXZ6_HUMAN | Fragile X mental retardation syndro... | FXR1 | 608 | Annotation score: | ||
E7EU85 | E7EU85_HUMAN | Fragile X mental retardation syndro... | FXR1 | 454 | Annotation score: | ||
E9PFF5 | E9PFF5_HUMAN | Fragile X mental retardation syndro... | FXR1 | 490 | Annotation score: | ||
H7C4S4 | H7C4S4_HUMAN | Fragile X mental retardation syndro... | FXR1 | 246 | Annotation score: | ||
C9JAJ4 | C9JAJ4_HUMAN | Fragile X mental retardation syndro... | FXR1 | 151 | Annotation score: | ||
C9JY20 | C9JY20_HUMAN | Fragile X mental retardation syndro... | FXR1 | 123 | Annotation score: | ||
C9IZ22 | C9IZ22_HUMAN | Fragile X mental retardation syndro... | FXR1 | 94 | Annotation score: | ||
C9J5B4 | C9J5B4_HUMAN | Fragile X mental retardation syndro... | FXR1 | 75 | Annotation score: | ||
C9JZE0 | C9JZE0_HUMAN | Fragile X mental retardation syndro... | FXR1 | 119 | Annotation score: | ||
C9JYQ6 | C9JYQ6_HUMAN | Fragile X mental retardation syndro... | FXR1 | 19 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 3 – 4 | EL → DV in AAC50155 (PubMed:7781595).Curated | 2 | |
Sequence conflicti | 27 | S → P in BAF85322 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036050 | 233 | A → T in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_016077 | 429 | D → N1 PublicationCorresponds to variant dbSNP:rs1051080Ensembl. | 1 | |
Natural variantiVAR_014890 | 614 | A → V. Corresponds to variant dbSNP:rs11499Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_019709 | 1 – 85 | Missing in isoform 3. 1 PublicationAdd BLAST | 85 | |
Alternative sequenceiVSP_019710 | 535 – 539 | VTVAD → GKRCD in isoform 2. 2 Publications | 5 | |
Alternative sequenceiVSP_019711 | 540 – 621 | Missing in isoform 2. 2 PublicationsAdd BLAST | 82 |
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 |
CCDSi | CCDS3238.1 [P51114-1] CCDS33894.1 [P51114-3] CCDS46965.1 [P51114-2] |
PIRi | S55330 |
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
Ensembli | ENST00000305586; ENSP00000307633; ENSG00000114416 [P51114-3] ENST00000357559; ENSP00000350170; ENSG00000114416 [P51114-1] ENST00000445140; ENSP00000388828; ENSG00000114416 [P51114-2] |
GeneIDi | 8087 |
KEGGi | hsa:8087 |
UCSCi | uc003fkp.4, human [P51114-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS3238.1 [P51114-1] CCDS33894.1 [P51114-3] CCDS46965.1 [P51114-2] |
PIRi | S55330 |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2CPQ | NMR | - | A | 212-289 | [»] | |
3KUF | X-ray | 2.70 | A | 2-132 | [»] | |
3O8V | X-ray | 2.50 | A | 2-132 | [»] | |
SMRi | P51114 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113760, 161 interactors |
CORUMi | P51114 |
DIPi | DIP-40789N |
IntActi | P51114, 113 interactors |
MINTi | P51114 |
STRINGi | 9606.ENSP00000350170 |
Chemistry databases
ChEMBLi | CHEMBL3879858 |
PTM databases
iPTMneti | P51114 |
MetOSitei | P51114 |
PhosphoSitePlusi | P51114 |
SwissPalmi | P51114 |
Polymorphism and mutation databases
BioMutai | FXR1 |
DMDMi | 189047132 |
Proteomic databases
EPDi | P51114 |
jPOSTi | P51114 |
MassIVEi | P51114 |
MaxQBi | P51114 |
PaxDbi | P51114 |
PeptideAtlasi | P51114 |
PRIDEi | P51114 |
ProteomicsDBi | 56278 [P51114-1] 56279 [P51114-2] 56280 [P51114-3] |
Protocols and materials databases
Antibodypediai | 18845, 311 antibodies |
DNASUi | 8087 |
Genome annotation databases
Ensembli | ENST00000305586; ENSP00000307633; ENSG00000114416 [P51114-3] ENST00000357559; ENSP00000350170; ENSG00000114416 [P51114-1] ENST00000445140; ENSP00000388828; ENSG00000114416 [P51114-2] |
GeneIDi | 8087 |
KEGGi | hsa:8087 |
UCSCi | uc003fkp.4, human [P51114-1] |
Organism-specific databases
CTDi | 8087 |
DisGeNETi | 8087 |
EuPathDBi | HostDB:ENSG00000114416.17 |
GeneCardsi | FXR1 |
HGNCi | HGNC:4023, FXR1 |
HPAi | ENSG00000114416, Tissue enriched (skeletal) |
MalaCardsi | FXR1 |
MIMi | 600819, gene |
neXtProti | NX_P51114 |
OpenTargetsi | ENSG00000114416 |
PharmGKBi | PA28439 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPKJ, Eukaryota |
GeneTreei | ENSGT00950000183189 |
HOGENOMi | CLU_020699_3_0_1 |
InParanoidi | P51114 |
OMAi | NERETCG |
PhylomeDBi | P51114 |
TreeFami | TF105427 |
Enzyme and pathway databases
PathwayCommonsi | P51114 |
Reactomei | R-HSA-6802952, Signaling by BRAF and RAF fusions |
Miscellaneous databases
BioGRID-ORCSi | 8087, 6 hits in 849 CRISPR screens |
ChiTaRSi | FXR1, human |
EvolutionaryTracei | P51114 |
GeneWikii | FXR1 |
GenomeRNAii | 8087 |
Pharosi | P51114, Tbio |
PROi | PR:P51114 |
RNActi | P51114, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000114416, Expressed in testis and 245 other tissues |
ExpressionAtlasi | P51114, baseline and differential |
Genevisiblei | P51114, HS |
Family and domain databases
Gene3Di | 3.30.1370.10, 2 hits |
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 |
PANTHERi | PTHR10603, PTHR10603, 1 hit |
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 |
SMARTi | View protein in SMART SM00322, KH, 2 hits |
SUPFAMi | SSF54791, SSF54791, 2 hits |
PROSITEi | View protein in PROSITE PS51641, AGENET_LIKE, 2 hits PS50084, KH_TYPE_1, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FXR1_HUMAN | |
Accessioni | P51114Primary (citable) accession number: P51114 Secondary accession number(s): A8K9B8, Q7Z450, Q8N6R8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | May 20, 2008 | |
Last modified: | December 2, 2020 | |
This is version 203 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations