LOCUS       NM_002024               4441 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens fragile X messenger ribonucleoprotein 1 (FMR1),
            transcript variant ISO1, mRNA.
ACCESSION   NM_002024
VERSION     NM_002024.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4441)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4441)
  AUTHORS   Sittler,A., Devys,D., Weber,C. and Mandel,J.L.
  TITLE     Alternative splicing of exon 14 determines nuclear or cytoplasmic
            localisation of fmr1 protein isoforms
  JOURNAL   Hum Mol Genet 5 (1), 95-102 (1996)
   PUBMED   8789445
REFERENCE   3  (bases 1 to 4441)
  AUTHORS   Verkerk,A.J., de Graaff,E., De Boulle,K., Eichler,E.E.,
            Konecki,D.S., Reyniers,E., Manca,A., Poustka,A., Willems,P.J.,
            Nelson,D.L. et al.
  TITLE     Alternative splicing in the fragile X gene FMR1
  JOURNAL   Hum Mol Genet 2 (8), 1348 (1993)
   PUBMED   8401531
  REMARK    Correction to:[Hum Mol Genet. 1993 Apr;2(4):399-404. doi:
            10.1093/hmg/2.4.399.. PMID: 8504300]
REFERENCE   4  (bases 1 to 4441)
  AUTHORS   Ashley,C.T., Sutcliffe,J.S., Kunst,C.B., Leiner,H.A., Eichler,E.E.,
            Nelson,D.L. and Warren,S.T.
  TITLE     Human and murine FMR-1: alternative splicing and translational
            initiation downstream of the CGG-repeat
  JOURNAL   Nat Genet 4 (3), 244-251 (1993)
   PUBMED   8358432
REFERENCE   5  (bases 1 to 4441)
  AUTHORS   Verkerk,A.J., de Graaff,E., De Boulle,K., Eichler,E.E.,
            Konecki,D.S., Reyniers,E., Manca,A., Poustka,A., Willems,P.J.,
            Nelson,D.L. et al.
  TITLE     Alternative splicing in the fragile X gene FMR1
  JOURNAL   Hum Mol Genet 2 (4), 399-404 (1993)
   PUBMED   8504300
  REMARK    Erratum:[Hum Mol Genet. 1993 Aug;2(8):1348. doi:
            10.1093/hmg/2.8.1348.. PMID: 8401531]
REFERENCE   6  (bases 1 to 4441)
  AUTHORS   Hunter,J.E., Berry-Kravis,E., Hipp,H. and Todd,P.K.
  TITLE     FMR1 Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301558
REFERENCE   7  (bases 1 to 4441)
  AUTHORS   Laval,S.H., Blair,H.J., Hirst,M.C., Davies,K.E. and Boyd,Y.
  TITLE     Mapping of FMR1, the gene implicated in fragile X-linked mental
            retardation, on the mouse X chromosome
  JOURNAL   Genomics 12 (4), 818-821 (1992)
   PUBMED   1572655
REFERENCE   8  (bases 1 to 4441)
  AUTHORS   Richards,R.I., Holman,K., Kozman,H., Kremer,E., Lynch,M.,
            Pritchard,M., Yu,S., Mulley,J. and Sutherland,G.R.
  TITLE     Fragile X syndrome: genetic localisation by linkage mapping of two
            microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank
            the fragile site
  JOURNAL   J Med Genet 28 (12), 818-823 (1991)
   PUBMED   1757956
REFERENCE   9  (bases 1 to 4441)
  AUTHORS   Verkerk,A.J., Pieretti,M., Sutcliffe,J.S., Fu,Y.H., Kuhl,D.P.,
            Pizzuti,A., Reiner,O., Richards,S., Victoria,M.F., Zhang,F.P. et
            al.
  TITLE     Identification of a gene (FMR-1) containing a CGG repeat coincident
            with a breakpoint cluster region exhibiting length variation in
            fragile X syndrome
  JOURNAL   Cell 65 (5), 905-914 (1991)
   PUBMED   1710175
REFERENCE   10 (bases 1 to 4441)
  AUTHORS   Mulligan,L.M., Phillips,M.A., Forster-Gibson,C.J., Beckett,J.,
            Partington,M.W., Simpson,N.E., Holden,J.J. and White,B.N.
  TITLE     Genetic mapping of DNA segments relative to the locus for the
            fragile-X syndrome at Xq27.3
  JOURNAL   Am J Hum Genet 37 (3), 463-472 (1985)
   PUBMED   2988332
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L29074.1 and KJ534837.1.
            
            On Oct 24, 2019 this sequence version replaced NM_002024.5.
            
            Summary: 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. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (ISO1) represents the longest
            transcript and it encodes the longest protein (isoform ISO1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: KJ534837.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370475.9/ ENSP00000359506.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-261               L29074.1           13701-13961
            262-552             KJ534837.1         1-291
            553-553             L29074.1           30462-30462
            554-2157            KJ534837.1         293-1896
            2158-4441           L29074.1           50626-52909
FEATURES             Location/Qualifiers
     source          1..4441
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.3"
     gene            1..4441
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /note="fragile X messenger ribonucleoprotein 1"
                     /db_xref="GeneID:2332"
                     /db_xref="HGNC:HGNC:3775"
                     /db_xref="MIM:309550"
     exon            1..312
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     CDS             262..2160
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /note="isoform ISO1 is encoded by transcript variant ISO1;
                     synaptic functional regulator FMR1; FMRP translational
                     regulator 1"
                     /codon_start=1
                     /product="fragile X messenger ribonucleoprotein 1 isoform
                     ISO1"
                     /protein_id="NP_002015.1"
                     /db_xref="CCDS:CCDS14682.1"
                     /db_xref="GeneID:2332"
                     /db_xref="HGNC:HGNC:3775"
                     /db_xref="MIM:309550"
                     /translation="MEELVVEVRGSNGAFYKAFVKDVHEDSITVAFENNWQPDRQIPF
                     HDVRFPPPVGYNKDINESDEVEVYSRANEKEPCCWWLAKVRMIKGEFYVIEYAACDAT
                     YNEIVTIERLRSVNPNKPATKDTFHKIKLDVPEDLRQMCAKEAAHKDFKKAVGAFSVT
                     YDPENYQLVILSINEVTSKRAHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASR
                     FHEQFIVREDLMGLAIGTHGANIQQARKVPGVTAIDLDEDTCTFHIYGEDQDAVKKAR
                     SFLEFAEDVIQVPRNLVGKVIGKNGKLIQEIVDKSGVVRVRIEAENEKNVPQEEEIMP
                     PNSLPSNNSRVGPNAPEEKKHLDIKENSTHFSQPNSTKVQRVLVASSVVAGESQKPEL
                     KAWQGMVPFVFVGTKDSIANATVLLDYHLNYLKEVDQLRLERLQIDEQLRQIGASSRP
                     PPNRTDKEKSYVTDDGQGMGRGSRPYRNRGHGRRGPGYTSGTNSEASNASETESDHRD
                     ELSDWSLAPTEEERESFLRRGDGRRRGGGGRGQGGRGRGGGFKGNDDHSRTDNRPRNP
                     REAKGRTTDGSLQIRVDCNNERSVHTKTLQNTSSEGSRLRTGKDRNQKKEKPDSVDGQ
                     QPLVNGVP"
     exon            313..365
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            366..459
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            460..531
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            532..680
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            681..774
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            775..891
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            892..1062
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1141
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1251
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1386
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..1449
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..1536
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1732
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            1733..1915
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            1916..1998
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     exon            1999..4441
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3928..3933
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /note="hexamer: AATAAA"
     polyA_site      3954
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /note="major polyA site"
     regulatory      4361..4366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /note="hexamer: ATTAAA"
     polyA_site      4382
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /note="major polyA site"
     regulatory      4409..4414
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /note="hexamer: ATTAAA"
     polyA_site      4441
                     /gene="FMR1"
                     /gene_synonym="FMRP; FRAXA; POF; POF1; POFX"
                     /note="major polyA site"
ORIGIN      
        1 ctcagtcagg cgctcagctc cgtttcggtt tcacttccgg tggagggccg cctctgagcg
       61 ggcggcgggc cgacggcgag cgcgggcggc ggcggtgacg gaggcgccgc tgccaggggg
      121 cgtgcggcag cgcggcggcg gcggcggcgg cggcggcggc ggaggcggcg gcggcggcgg
      181 cggcggcggc ggctgggcct cgagcgcccg cagcccacct ctcgggggcg ggctcccggc
      241 gctagcaggg ctgaagagaa gatggaggag ctggtggtgg aagtgcgggg ctccaatggc
      301 gctttctaca aggcatttgt aaaggatgtt catgaagatt caataacagt tgcatttgaa
      361 aacaactggc agcctgatag gcagattcca tttcatgatg tcagattccc acctcctgta
      421 ggttataata aagatataaa tgaaagtgat gaagttgagg tgtattccag agcaaatgaa
      481 aaagagcctt gctgttggtg gttagctaaa gtgaggatga taaagggtga gttttatgtg
      541 atagaatatg cagcatgtga tgcaacttac aatgaaattg tcacaattga acgtctaaga
      601 tctgttaatc ccaacaaacc tgccacaaaa gatactttcc ataagatcaa gctggatgtg
      661 ccagaagact tacggcaaat gtgtgccaaa gaggcggcac ataaggattt taaaaaggca
      721 gttggtgcct tttctgtaac ttatgatcca gaaaattatc agcttgtcat tttgtccatc
      781 aatgaagtca cctcaaagcg agcacatatg ctgattgaca tgcactttcg gagtctgcgc
      841 actaagttgt ctctgataat gagaaatgaa gaagctagta agcagctgga gagttcaagg
      901 cagcttgcct cgagatttca tgaacagttt atcgtaagag aagatctgat gggtctagct
      961 attggtactc atggtgctaa tattcagcaa gctagaaaag tacctggggt cactgctatt
     1021 gatctagatg aagatacctg cacatttcat atttatggag aggatcagga tgcagtgaaa
     1081 aaagctagaa gctttctcga atttgctgaa gatgtaatac aagttccaag gaacttagta
     1141 ggcaaagtaa taggaaaaaa tggaaagctg attcaggaga ttgtggacaa gtcaggagtt
     1201 gtgagggtga ggattgaggc tgaaaatgag aaaaatgttc cacaagaaga ggaaattatg
     1261 ccaccaaatt cccttccttc caataattca agggttggac ctaatgcccc agaagaaaaa
     1321 aaacatttag atataaagga aaacagcacc catttttctc aacctaacag tacaaaagtc
     1381 cagagggtgt tagtggcttc atcagttgta gcaggggaat cccagaaacc tgaactcaag
     1441 gcttggcagg gtatggtacc atttgttttt gtgggaacaa aggacagcat cgctaatgcc
     1501 actgttcttt tggattatca cctgaactat ttaaaggaag tagaccagtt gcgtttggag
     1561 agattacaaa ttgatgagca gttgcgacag attggagcta gttctagacc accaccaaat
     1621 cgtacagata aggaaaaaag ctatgtgact gatgatggtc aaggaatggg tcgaggtagt
     1681 agaccttaca gaaatagggg gcacggcaga cgcggtcctg gatatacttc aggaactaat
     1741 tctgaagcat caaatgcttc tgaaacagaa tctgaccaca gagacgaact cagtgattgg
     1801 tcattagctc caacagagga agagagggag agcttcctgc gcagaggaga cggacggcgg
     1861 cgtggagggg gaggaagagg acaaggagga agaggacgtg gaggaggctt caaaggaaac
     1921 gacgatcact cccgaacaga taatcgtcca cgtaatccaa gagaggctaa aggaagaaca
     1981 acagatggat cccttcagat cagagttgac tgcaataatg aaaggagtgt ccacactaaa
     2041 acattacaga atacctccag tgaaggtagt cggctgcgca cgggtaaaga tcgtaaccag
     2101 aagaaagaga agccagacag cgtggatggt cagcaaccac tcgtgaatgg agtaccctaa
     2161 actgcataat tctgaagtta tatttcctat accatttccg taattcttat tccatattag
     2221 aaaactttgt taggccaaag acaaatagta ggcaagatgg cacagggcat gaaatgaaca
     2281 caaattatgc taagaatttt ttattttttg gtattggcca taagcaacaa ttttcagatt
     2341 tgcacaaaaa gataccttaa aatttgaaac attgctttta aaactactta gcacttcagg
     2401 gcagatttta gttttatttt ctaaagtact gagcagtgat attctttgtt aatttggacc
     2461 attttcctgc attgggtgat cattcaccag tacattctca gtttttctta atatatagca
     2521 tttatggtaa tcatattaga cttctgtttt caatctcgta tagaagtctt catgaaatgc
     2581 tatgtcattt catgtcctgt gtcagtttat gttttggtcc acttttccag tattttagtg
     2641 gaccctgaaa tgtgtgtgat gtgacatttg tcattttcat tagcaaaaaa agttgtatga
     2701 tctgtgcctt ttttatatct tggcaggtag gaatattata tttggatgca gagttcaggg
     2761 aagataagtt ggaaacacta aatgttaaag atgtagcaaa ccctgtcaaa cattagtact
     2821 ttatagaaga atgcatgctt tccatatttt tttccttaca taaacatcag gttaggcagt
     2881 ataaagaata ggacttgttt ttgtttttgt tttgttgcac tgaagtttga taaatagtgt
     2941 tattgagaga gatgtgtaat ttttctgtat agacaggaga agaaagaact atcttcatct
     3001 gagagaggct aaaatgtttt cagctaggaa caaatcttcc tggtcgaaag ttagtaggat
     3061 atgcctgctc tttggcctga tgaccaattt taacttagag cttttttttt ttaattttgt
     3121 ctgccccaag ttttgtgaaa tttttcatat tttaatttca agcttatttt ggagagatag
     3181 gaaggtcatt tccatgtatg cataataatc ctgcaaagta caggtacttt gtctaagaaa
     3241 cattggaagc aggttaaatg ttttgtaaac tttgaaatat atggtctaat gtttaagcag
     3301 aattggaaaa gactaagatc ggttaacaaa taacaacttt tttttctttt tttcttttgt
     3361 tttttgaagt gttggggttt ggttttgttt tttgagtctt ttttttttaa gtgaaattta
     3421 ttgaggaaaa atatgtgaag gaccttcact ctaagatgtt atatttttct taaaaagtaa
     3481 ctcctagtag gggtaccact gaatctgtac agagccgtaa aaactgaagt tctgcctctg
     3541 atgtattttg tgagtttgtt tctttgaatt ttcattttac agttactttt ccttgcatac
     3601 aaacaagcat ataaaatggc aacaaactgc acatgatttc acaaatatta aaaagtcttt
     3661 taaaaagtat tgccaaacat taatgttgat ttctagttat ttattctggg aatgtatagt
     3721 atttgaaaac agaaattggt accttgcaca catcatctgt aagctgtttg gttttaaaat
     3781 actgtagata attaaccaag gtagaatgac cttgtaatgt aactgctctt gggcaatatt
     3841 ctctgtacat attagcgaca acagattgga ttttatgttg acatttgttt ggttatagtg
     3901 caatatattt tgtatgcaag cagtttcaat aaagtttgat cttcctctgc taaattgatg
     3961 ttgatgcaat ccttacaaat gattgctttt aaaattttaa gctaggaaaa gaaatctata
     4021 gaaagtgttc tgttacaaaa tgtaactgtt accattggaa atttcacgtc ataggaagtt
     4081 agcctttatc taccaacttt caagaacttg tttaataaag cgaaaaactc aaccaaatgg
     4141 tacaaaacca cagtgtacca ttaaaatatg cactaagtct cttttttaca aaggctgtat
     4201 tcagcaaggc gctaacttgc ttaaatgtga attactaact tctaaaactg tactttgatt
     4261 cacatgtttt caaatggagt tggagttcat tcatattaca atatttgtgt gctaaacgtg
     4321 tatgtttttc agttcaaagt catgatgttt ttaaaatctt attaaagttt caaaaatctg
     4381 aagattgttt atctagatgt aaatttttat taaaaagttg cacttatgaa aaagcaaaaa
     4441 a
//
