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Fragile X mental retardation syndrome-related protein 1; hFXR1p (FXR1)
Function:
- RNA-binding protein required for embryonic & postnatal development of muscle tissue
- may regulate intracellular transport & local translation of certain mRNAs (putative)
- interacts with FMR1 & FXR2. interacts with TDRD3, & with CYFIP2 but not with CYFIP1
Structure:
- belongs to the FMR1 family
- contains 2 KH domains
- Arg-445 is dimethylated, probably to asymmetric dimethylarginine
Compartment: cytoplasm
Alternative splicing: named isoforms=3; alternative splicing appears to be tissue-specific
Expression:
- expressed in all tissues examined including heart, brain, kidney & testis
Related
FXR1 gene (fragile X mental retardation, autosomal homolog)
General
nuclear protein
phosphoprotein
RNA-binding protein
Properties
SIZE: entity length = 621 aa
MW = 70 kD
COMPARTMENT: cytoplasm
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
proline-rich region
SITE: 50-53
MOTIF: proline residue (SEVERAL)
Tyr phosphorylation site {Y68}
KH domain
SITE: 222-251
FOR-BINDING-OF: ribonucleic acid
KH domain
SITE: 285-314
FOR-BINDING-OF: ribonucleic acid
Ser phosphorylation site {S406}
Ser phosphorylation site {S409}
binding site
SITE: 442-457
FOR-BINDING-OF: ribonucleic acid
Tyr phosphorylation site {Y477}
arginine-rich region {502-510}
MOTIF: arginine residue (SEVERAL)
Ser phosphorylation site {S585}
Database Correlations
OMIM 600819
UniProt P51114
PFAM correlations
Entrez Gene 8087
Kegg hsa:8087
References
UniProt :accession P51114