| Gene Symbol | FMR1 |
|---|---|
| Entrez Gene | 2332 |
| Alt Symbol | FMRP, FRAXA, POF, POF1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | fragile X mental retardation 1 |
| Other Description | fragile X mental retardation protein 1 |
| Swissprots | G8JL90 D3DWT0 D3DWT2 Q5PQZ6 A6NNH4 Q16578 Q99054 Q06787 D3DWT1 |
| Accessions | AAA62452 AAA62453 AAA62454 AAA62455 AAA62456 AAA62457 AAA62458 AAA62459 AAA62460 AAA62461 AAA62462 AAA62463 AAA62464 AAA62465 AAA62466 AAA62467 AAA62468 AAA62469 AAB18828 AAB18829 AAB18830 AAB18831 AAB18832 AAB18833 AAD14228 EAW61293 EAW61294 EAW61295 EAW61296 EAW61297 EAW61298 EAW61299 EAW61300 EAW61301 EAW61302 EAW61303 Q06787 AB209188 BAD92425 AK294104 BAG57439 AK302707 BAG63929 BC038998 AAH38998 BC086957 AAH86957 BQ213316 BQ287827 BQ417290 BX498094 CK825936 CN315330 CX871385 KC774027 AGO02164 KC774028 AGO02165 KC774029 AGO02166 KF856234 AHI43787 KJ534836 AHW56476 KJ534837 AHW56477 KJ534838 AHW56478 M67468 AAA52458 S65791 AAB28395 X69962 CAA49586 NM_001185075 NP_001172004 NM_001185076 NP_001172005 NM_001185081 NP_001172010 NM_001185082 NP_001172011 NM_002024 NP_002015 NR_033699 NR_033700 |
| Function | Translation repressor. Component of the CYFIP1-EIF4E- FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA- binding protein that plays a role in intracellular RNA transport and in the 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). {ECO:0000250}. |
| Subcellular Location | Cytoplasm. Nucleus, nucleolus. |
| Tissue Specificity | Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells. {ECO:0000269|PubMed:8401578, ECO:0000269|PubMed:8504300}. |
| Top Pathways | RNA transport |