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Protein

Fragile X mental retardation syndrome-related protein 1

Gene

FXR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • 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

Keywordsi

Molecular functionDevelopmental protein, RNA-binding
Biological processDifferentiation, Myogenesis

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000114416.17
HGNCiHGNC:4023 FXR1
MIMi600819 gene
neXtProtiNX_P51114

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi8087
OpenTargetsiENSG00000114416
PharmGKBiPA28439

Chemistry databases

ChEMBLiCHEMBL3879858

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
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

Post-translational modificationi

Arg-445 is dimethylated, probably to asymmetric dimethylarginine.

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

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

PTM databases

iPTMnetiP51114
PhosphoSitePlusiP51114

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000114416 Expressed in 232 organ(s), highest expression level in testis
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 HABP4 (PubMed:21771594). Interacts with CYFIP2 but not with CYFIP1 (By similarity).By similarity5 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113760, 87 interactors
CORUMiP51114
DIPiDIP-40789N
IntActiP51114, 85 interactors
MINTiP51114
STRINGi9606.ENSP00000350170

Structurei

Secondary structure

1621
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Keywords - Domaini

Repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di3.30.1370.10, 2 hits
InterProiView protein in InterPro
IPR008395 Agenet-like_dom
IPR022034 FXMRP1_C_core
IPR032172 FXR_C1
IPR032177 FXR_C3
IPR004087 KH_dom
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
PfamiView protein in Pfam
PF05641 Agenet, 2 hits
PF12235 FXMRP1_C_core, 2 hits
PF16096 FXR_C1, 1 hit
PF16097 FXR_C3, 1 hit
PF00013 KH_1, 2 hits
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

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.

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 '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

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:
B4DXZ6B4DXZ6_HUMAN
cDNA FLJ58644, highly similar to Fr...
FXR1
608Annotation score:
E9PFF5E9PFF5_HUMAN
Fragile X mental retardation syndro...
FXR1
490Annotation score:
H7C4S4H7C4S4_HUMAN
Fragile X mental retardation syndro...
FXR1
246Annotation score:
C9JAJ4C9JAJ4_HUMAN
Fragile X mental retardation syndro...
FXR1
151Annotation score:
C9JY20C9JY20_HUMAN
Fragile X mental retardation syndro...
FXR1
123Annotation score:
C9IZ22C9IZ22_HUMAN
Fragile X mental retardation syndro...
FXR1
94Annotation score:
C9J5B4C9J5B4_HUMAN
Fragile X mental retardation syndro...
FXR1
75Annotation score:
C9JZE0C9JZE0_HUMAN
Fragile X mental retardation syndro...
FXR1
119Annotation score:
C9JYQ6C9JYQ6_HUMAN
Fragile X mental retardation syndro...
FXR1
19Annotation score:

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 → N1 PublicationCorresponds to variant dbSNP:rs1051080Ensembl.1
Natural variantiVAR_014890614A → V. Corresponds to variant dbSNP:rs11499Ensembl.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

Similar 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
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, 87 interactors
CORUMiP51114
DIPiDIP-40789N
IntActiP51114, 85 interactors
MINTiP51114
STRINGi9606.ENSP00000350170

Chemistry databases

ChEMBLiCHEMBL3879858

PTM databases

iPTMnetiP51114
PhosphoSitePlusiP51114

Polymorphism and mutation databases

BioMutaiFXR1
DMDMi189047132

Proteomic databases

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

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
EuPathDBiHostDB:ENSG00000114416.17
GeneCardsiFXR1
HGNCiHGNC:4023 FXR1
HPAiHPA018246
HPA055475
MIMi600819 gene
neXtProtiNX_P51114
OpenTargetsiENSG00000114416
PharmGKBiPA28439
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-6802952 Signaling by BRAF and RAF fusions

Miscellaneous databases

ChiTaRSiFXR1 human
EvolutionaryTraceiP51114
GeneWikiiFXR1
GenomeRNAii8087
PROiPR:P51114
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114416 Expressed in 232 organ(s), highest expression level in testis
CleanExiHS_FXR1
ExpressionAtlasiP51114 baseline and differential
GenevisibleiP51114 HS

Family and domain databases

Gene3Di3.30.1370.10, 2 hits
InterProiView protein in InterPro
IPR008395 Agenet-like_dom
IPR022034 FXMRP1_C_core
IPR032172 FXR_C1
IPR032177 FXR_C3
IPR004087 KH_dom
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
PfamiView protein in Pfam
PF05641 Agenet, 2 hits
PF12235 FXMRP1_C_core, 2 hits
PF16096 FXR_C1, 1 hit
PF16097 FXR_C3, 1 hit
PF00013 KH_1, 2 hits
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
ProtoNetiSearch...

Entry informationi

Entry nameiFXR1_HUMAN
AccessioniPrimary (citable) accession number: P51114
Secondary accession number(s): A8K9B8, Q7Z450, Q8N6R8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 20, 2008
Last modified: November 7, 2018
This is version 186 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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