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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-Experimental evidence at protein leveli

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

GO - Molecular functioni

  • G-quadruplex RNA binding Source: Ensembl
  • mRNA 3'-UTR binding Source: Ensembl
  • mRNA binding Source: GO_Central
  • poly(A) RNA binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • RNA binding Source: ProtInc
  • RNA strand annealing activity Source: UniProtKB

GO - Biological processi

  • apoptotic process Source: ProtInc
  • cell differentiation Source: UniProtKB-KW
  • muscle organ development Source: UniProtKB-KW
  • negative regulation of translation Source: GO_Central
  • positive regulation of gene silencing by miRNA Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Myogenesis

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000114416-MONOMER.
ReactomeiR-HSA-6802952. Signaling by BRAF and RAF fusions.

Names & Taxonomyi

Protein namesi
Recommended name:
Fragile X mental retardation syndrome-related protein 1
Short name:
hFXR1p
Gene namesi
Name:FXR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:4023. FXR1.

Subcellular locationi

  • Cytoplasm 1 Publication

GO - Cellular componenti

  • axon Source: Ensembl
  • costamere Source: Ensembl
  • cytoplasm Source: HPA
  • dendritic spine Source: Ensembl
  • membrane Source: UniProtKB
  • nucleolus Source: ProtInc
  • perinuclear region of cytoplasm Source: Ensembl
  • polysome Source: ProtInc
  • ribonucleoprotein granule Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi8087.
OpenTargetsiENSG00000114416.
PharmGKBiPA28439.

Polymorphism and mutation databases

BioMutaiFXR1.
DMDMi189047132.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000501062 – 621Fragile X mental retardation syndrome-related protein 1Add BLAST620

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
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

Post-translational modificationi

Arg-445 is dimethylated, probably to asymmetric dimethylarginine.

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP51114.
MaxQBiP51114.
PaxDbiP51114.
PeptideAtlasiP51114.
PRIDEiP51114.

PTM databases

iPTMnetiP51114.
PhosphoSitePlusiP51114.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000114416.
CleanExiHS_FXR1.
ExpressionAtlasiP51114. baseline and differential.
GenevisibleiP51114. HS.

Organism-specific databases

HPAiHPA018246.
HPA055475.

Interactioni

Subunit structurei

Interacts with FMR1 (PubMed:8668200, PubMed:7489725, PubMed:11157796). Interacts with FRX2 (PubMed:7489725). Interacts with TDRD3 (PubMed:18664458). Interacts with CYFIP2 but not with CYFIP1 (By similarity).By similarity4 Publications

GO - Molecular functioni

  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi113760. 74 interactors.
DIPiDIP-40789N.
IntActiP51114. 75 interactors.
MINTiMINT-1369113.
STRINGi9606.ENSP00000350170.

Structurei

Secondary structure

1621
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi5 – 9Combined sources5
Beta strandi15 – 23Combined sources9
Beta strandi28 – 34Combined sources7
Beta strandi40 – 42Combined sources3
Helixi44 – 46Combined sources3
Beta strandi64 – 69Combined sources6
Beta strandi78 – 88Combined sources11
Beta strandi91 – 95Combined sources5
Beta strandi104 – 108Combined sources5
Helixi109 – 111Combined sources3
Beta strandi112 – 114Combined sources3
Beta strandi213 – 216Combined sources4
Beta strandi218 – 224Combined sources7
Helixi227 – 234Combined sources8
Helixi239 – 245Combined sources7
Beta strandi250 – 256Combined sources7
Turni257 – 260Combined sources4
Beta strandi261 – 268Combined sources8
Helixi269 – 279Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CPQNMR-A212-289[»]
3KUFX-ray2.70A2-132[»]
3O8VX-ray2.50A2-132[»]
ProteinModelPortaliP51114.
SMRiP51114.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51114.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Regioni442 – 457RNA-binding RGG-boxAdd BLAST16

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi50 – 53Poly-Pro4
Compositional biasi502 – 510Poly-Arg9

Domaini

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

Sequence similaritiesi

Belongs to the FMR1 family.Curated
Contains 2 Agenet-like domains.PROSITE-ProRule annotation
Contains 2 KH domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IF9J. Eukaryota.
ENOG410ZDJG. LUCA.
GeneTreeiENSGT00390000017033.
HOGENOMiHOG000293377.
HOVERGENiHBG005739.
InParanoidiP51114.
KOiK15516.
OMAiDKKPQRR.
OrthoDBiEOG091G08EZ.
PhylomeDBiP51114.
TreeFamiTF105427.

Family and domain databases

Gene3Di3.30.1370.10. 2 hits.
InterProiIPR008395. Agenet-like_dom.
IPR022034. FXMRP1_C_core.
IPR032172. FXR_C1.
IPR032177. FXR_C3.
IPR004087. KH_dom.
IPR004088. KH_dom_type_1.
[Graphical view]
PfamiPF05641. Agenet. 2 hits.
PF12235. FXMRP1_C_core. 2 hits.
PF16096. FXR_C1. 1 hit.
PF16097. FXR_C3. 1 hit.
PF00013. KH_1. 2 hits.
[Graphical view]
SMARTiSM00322. KH. 2 hits.
[Graphical view]
SUPFAMiSSF54791. SSF54791. 2 hits.
PROSITEiPS51641. AGENET_LIKE. 2 hits.
PS50084. KH_TYPE_1. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Alternative splicing appears to be tissue-specific.
Isoform 1 (identifier: P51114-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the 'canonical' 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
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

Experimental Info

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036050233A → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_016077429D → N.1 PublicationCorresponds to variant rs1051080dbSNPEnsembl.1
Natural variantiVAR_014890614A → V.Corresponds to variant rs11499dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.478407.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.478407.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CPQNMR-A212-289[»]
3KUFX-ray2.70A2-132[»]
3O8VX-ray2.50A2-132[»]
ProteinModelPortaliP51114.
SMRiP51114.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113760. 74 interactors.
DIPiDIP-40789N.
IntActiP51114. 75 interactors.
MINTiMINT-1369113.
STRINGi9606.ENSP00000350170.

PTM databases

iPTMnetiP51114.
PhosphoSitePlusiP51114.

Polymorphism and mutation databases

BioMutaiFXR1.
DMDMi189047132.

Proteomic databases

EPDiP51114.
MaxQBiP51114.
PaxDbiP51114.
PeptideAtlasiP51114.
PRIDEiP51114.

Protocols and materials databases

DNASUi8087.
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

CTDi8087.
DisGeNETi8087.
GeneCardsiFXR1.
HGNCiHGNC:4023. FXR1.
HPAiHPA018246.
HPA055475.
MIMi600819. gene.
neXtProtiNX_P51114.
OpenTargetsiENSG00000114416.
PharmGKBiPA28439.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF9J. Eukaryota.
ENOG410ZDJG. LUCA.
GeneTreeiENSGT00390000017033.
HOGENOMiHOG000293377.
HOVERGENiHBG005739.
InParanoidiP51114.
KOiK15516.
OMAiDKKPQRR.
OrthoDBiEOG091G08EZ.
PhylomeDBiP51114.
TreeFamiTF105427.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000114416-MONOMER.
ReactomeiR-HSA-6802952. Signaling by BRAF and RAF fusions.

Miscellaneous databases

ChiTaRSiFXR1. human.
EvolutionaryTraceiP51114.
GeneWikiiFXR1.
GenomeRNAii8087.
PROiP51114.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114416.
CleanExiHS_FXR1.
ExpressionAtlasiP51114. baseline and differential.
GenevisibleiP51114. HS.

Family and domain databases

Gene3Di3.30.1370.10. 2 hits.
InterProiIPR008395. Agenet-like_dom.
IPR022034. FXMRP1_C_core.
IPR032172. FXR_C1.
IPR032177. FXR_C3.
IPR004087. KH_dom.
IPR004088. KH_dom_type_1.
[Graphical view]
PfamiPF05641. Agenet. 2 hits.
PF12235. FXMRP1_C_core. 2 hits.
PF16096. FXR_C1. 1 hit.
PF16097. FXR_C3. 1 hit.
PF00013. KH_1. 2 hits.
[Graphical view]
SMARTiSM00322. KH. 2 hits.
[Graphical view]
SUPFAMiSSF54791. SSF54791. 2 hits.
PROSITEiPS51641. AGENET_LIKE. 2 hits.
PS50084. KH_TYPE_1. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFXR1_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 171 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, 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 polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.