Fragile X mental retardation 1 protein; protein FMR-1; FMRP (FMR1)
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Function
- RNA-binding protein that plays a role in intracellular RNA transport & in regulation of translation of target mRNAs
- associated with polysomes
- may play a role in the transport of mRNA from the nucleus to the cytoplasm
- binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C)
- RNA-binding activity is inhibited by RANBP9
- phosphorylated on several Ser (putative)
- found in a RNP granule complex with IGF2BP1
- directly interacts with SMN & TDRD3
- interacts with the SMN core complex
- interacts with FXR1, FXR2, IGF2BP1, NUFIP1, NUFIP2, MCRS1 & RANBP9
- interacts with CYFIP1 & CYFIP2
Structure
- homooligomer
- belongs to the FMR1 family
- contains 2 KH domains
Compartment
Alternative splicing
named isoforms=8 at least 12 different isoforms are produced
Expression
- highest levels found in neurons, brain, testis, placenta & lymphocytes
also expressed in epithelial tissues & at very low levels in glial cells
Pathology
- defects in FMR1 are the cause of:
- severe fragile X syndrome phenotype with Asn-304; involves sequestration of bound mRNAs in nontranslatable mRNP particles; in the absence of FMRP, these same mRNAs may be partially translated via alternate mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome; Asn-304 mutation maps to a position within the 2nd KH domain of FMRP that is critical for stabilizing sequence-specific RNA-protein interactions; Asn-304 mutation abrogates the association of the 2nd FMRP KH domain with its target, kissing complex RNA
More general terms
Component of
References
- ↑ Ross CA, McInnis MG, Margolis RL, Li SH. Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. Trends Neurosci. 1993 Jul;16(7):254-60. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7689767
- ↑ Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell. 1993 Jul 30;74(2):291-8. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7688265
- ↑ UniProt http://www.uniprot.org/uniprot/Q06787.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=FMR1
Database
- UniProt: http://www.uniprot.org/uniprot/Q06787.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2332
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2332
- OMIM: https://mirror.omim.org/entry/300623
- OMIM: https://mirror.omim.org/entry/300624
- OMIM: https://mirror.omim.org/entry/309550