QuickView for FMRP (gene)

Gene Symbol:

FMR1 Homo sapiens

Full name:

fragile X mental retardation 1

Synonyms:

FMRP, FRAXA, POF, POF1, synaptic functional regulator FMR1, fragile X mental retardation protein 1

Genomic Location:

Chr X: 146801201-146840303

Description:

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide rep...

View Full Description

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  RTAAACA_FREAC2_01 ,  ACTGTAG_MIR139 ,  TTTGCAC_MIR19A_MIR19B ,  SYATTGTG_UNKNOWN ,  MYCMAX_03 ,  CACGTG_MYC_Q2 ,  GCANCTGNY_MYOD_Q6 ,  TGTGTGA_MIR377 ,  TTGCACT_MIR130A_MIR301_MIR130B ,  CTTTGA_LEF1_Q2 ,  RYCACNNRNNRNCAG_UNKNOWN ,  AATGGAG_MIR136 ,  GTGCAAT_MIR25_MIR32_MIR92_MIR363_MIR367 ,  GGGAGGRR_MAZ_Q6 ,  GTAGGCA_MIR189 ,  TGTATGA_MIR4853P ,  SREBP1_01 ,  CATTTCA_MIR203 ,  GCTCTTG_MIR335 ,  RFX1_02 ,  TGCACTG_MIR148A_MIR152_MIR148B ,  GCAAAAA_MIR129 ,  GGGCGGR_SP1_Q6 ,  ATGTTAA_MIR302C ,  GTATGAT_MIR154_MIR487 ,  MGGAAGTG_GABP_B ,  IRF_Q6 ,  AAAGACA_MIR511 ,  USF_01 ,  ATACTGT_MIR144 ,  NRF1_Q6 ,  RNGTGGGC_UNKNOWN ,  GTGCCTT_MIR506 ,  AATGTGA_MIR23A_MIR23B ,  TTGCCAA_MIR182 ,  CETS1P54_01 ,  YGCGYRCGC_UNKNOWN ,  ATATGCA_MIR448 ,  SCGGAAGY_ELK1_02 ,  CAGTATT_MIR200B_MIR200C_MIR429 ,  GTTATAT_MIR410 ,  NRF2_01 ,  AGGGCAG_MIR18A ,  ICSBP_Q6 ,  CTTTGT_LEF1_Q2 ,  RCGCANGCGY_NRF1_Q6 ,  ISRE_01 ,  CTGTTAC_MIR194 ,  ELK1_02 ,  ZF5_B ,  AACTTT_UNKNOWN ,  YNGTTNNNATT_UNKNOWN ,  USF_02 ,  GTTAAAG_MIR302B ,  ACCATTT_MIR522 ,  STTTCRNTTT_IRF_Q6 ,  TATTATA_MIR374 ,  ATGTAGC_MIR221_MIR222

View More

View Less

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-101 ,  Predicted Gene Targets for miR-125 ,  Predicted Gene Targets for miR-129 ,  Predicted Gene Targets for miR-130 ,  Predicted Gene Targets for miR-132 ,  Predicted Gene Targets for miR-136 ,  Predicted Gene Targets for miR-139 ,  Predicted Gene Targets for miR-144 ,  Predicted Gene Targets for miR-148 ,  Predicted Gene Targets for miR-153 ,  Predicted Gene Targets for miR-181 ,  Predicted Gene Targets for miR-189 ,  Predicted Gene Targets for miR-19 ,  Predicted Gene Targets for miR-194 ,  Predicted Gene Targets for miR-141 ,  Predicted Gene Targets for miR-200b ,  Predicted Gene Targets for miR-205 ,  Predicted Gene Targets for miR-221 ,  Predicted Gene Targets for miR-23 ,  Predicted Gene Targets for miR-25 ,  Predicted Gene Targets for miR-323 ,  Predicted Gene Targets for miR-324-3p ,  Predicted Gene Targets for miR-324-5p ,  Predicted Gene Targets for miR-335 ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-377 ,  Predicted Gene Targets for miR-448 ,  Predicted Gene Targets for miR-450 ,  Predicted Gene Targets for miR-9 ,  Predicted Gene Targets for miR-96 ,  Predicted Gene Targets for miR-124a ,  Predicted Gene Targets for miR-182 ,  Predicted Gene Targets for miR-203 ,  Predicted Gene Targets for miR-374 ,  Predicted Gene Targets for miR-410 ,  Predicted Gene Targets for miR-485-3p ,  Predicted Gene Targets for miR-490 ,  Predicted Gene Targets for miR-496 ,  Predicted Gene Targets for miR-543

View More

View Less

Cytogenetic Map:

Xq27.3

search → result