LOCUS       NM_013522               1106 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Mus musculus FSHD region gene 1 (Frg1), mRNA.
ACCESSION   NM_013522
VERSION     NM_013522.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1106)
  AUTHORS   Hasegawa,K., Wada,H., Nagata,K., Fujiwara,H., Wada,N., Someya,H.,
            Mikami,Y., Sakai,H. and Kiyoshima,T.
  TITLE     Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1)
            expression and possible function in mouse tooth germ development
  JOURNAL   J Mol Histol 47 (4), 375-387 (2016)
   PUBMED   27234941
  REMARK    GeneRIF: FRG1 is involved in the morphogenesis of the tooth germ,
            as well as in the formation of enamel and dentin matrices and that
            FRG1 may play a role in the odontogenesis in the mouse following
            BMP4 stimulation.
REFERENCE   2  (bases 1 to 1106)
  AUTHORS   Ferri,G., Huichalaf,C.H., Caccia,R. and Gabellini,D.
  TITLE     Direct interplay between two candidate genes in FSHD muscular
            dystrophy
  JOURNAL   Hum Mol Genet 24 (5), 1256-1266 (2015)
   PUBMED   25326393
  REMARK    GeneRIF: Mouse Frg1 genomic area lacks DUX4 binding sites and DUX4
            is unable to activate the endogenous mouse Frg1 gene providing a
            possible explanation for the lack of muscle phenotype in DUX4
            transgenic mice.
REFERENCE   3  (bases 1 to 1106)
  AUTHORS   Sancisi,V., Germinario,E., Esposito,A., Morini,E., Peron,S.,
            Moggio,M., Tomelleri,G., Danieli-Betto,D. and Tupler,R.
  TITLE     Altered Tnnt3 characterizes selective weakness of fast fibers in
            mice overexpressing FSHD region gene 1 (FRG1)
  JOURNAL   Am J Physiol Regul Integr Comp Physiol 306 (2), R124-R137 (2014)
   PUBMED   24305066
  REMARK    GeneRIF: On the basis of these results, it was proposed that
            aberrant fTnT represents a biological marker of muscle phenotype
            severity and disease progression.
REFERENCE   4  (bases 1 to 1106)
  AUTHORS   Neguembor,M.V., Xynos,A., Onorati,M.C., Caccia,R., Bortolanza,S.,
            Godio,C., Pistoni,M., Corona,D.F., Schotta,G. and Gabellini,D.
  TITLE     FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone
            methyltransferase and impairs myogenesis
  JOURNAL   J Mol Cell Biol 5 (5), 294-307 (2013)
   PUBMED   23720823
  REMARK    GeneRIF: This study suggests a novel role of FRG1 as epigenetic
            regulator of muscle differentiation and indicates that Suv4-20h1
            has a gene-specific function in myogenesis.
REFERENCE   5  (bases 1 to 1106)
  AUTHORS   Xynos,A., Neguembor,M.V., Caccia,R., Licastro,D., Nonis,A., Di
            Serio,C., Stupka,E. and Gabellini,D.
  TITLE     Overexpression of facioscapulohumeral muscular dystrophy region
            gene 1 causes primary defects in myogenic stem cells
  JOURNAL   J Cell Sci 126 (Pt 10), 2236-2245 (2013)
   PUBMED   23525014
  REMARK    GeneRIF: transgenic overexpression results in a muscle-growth
            defect and a muscle regeneration impairment
REFERENCE   6  (bases 1 to 1106)
  AUTHORS   Gabellini,D., D'Antona,G., Moggio,M., Prelle,A., Zecca,C.,
            Adami,R., Angeletti,B., Ciscato,P., Pellegrino,M.A., Bottinelli,R.,
            Green,M.R. and Tupler,R.
  TITLE     Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
  JOURNAL   Nature 439 (7079), 973-977 (2006)
   PUBMED   16341202
REFERENCE   7  (bases 1 to 1106)
  AUTHORS   Yamaza,H., Matsuo,K., Kiyoshima,T., Shigemura,N., Kobayashi,I.,
            Wada,H., Akamime,A. and Sakai,H.
  TITLE     Detection of differentially expressed genes in the early
            developmental stage of the mouse mandible
  JOURNAL   Int J Dev Biol 45 (4), 675-680 (2001)
   PUBMED   11461004
REFERENCE   8  (bases 1 to 1106)
  AUTHORS   Grewal,P.K., Todd,L.C., van der Maarel,S., Frants,R.R. and
            Hewitt,J.E.
  TITLE     FRG1, a gene in the FSH muscular dystrophy region on human
            chromosome 4q35, is highly conserved in vertebrates and
            invertebrates
  JOURNAL   Gene 216 (1), 13-19 (1998)
   PUBMED   9714712
REFERENCE   9  (bases 1 to 1106)
  AUTHORS   Grewal,P.K., Bolland,D.J., Todd,L.C. and Hewitt,J.E.
  TITLE     High-resolution mapping of mouse chromosome 8 identifies an
            evolutionary chromosomal breakpoint
  JOURNAL   Mamm Genome 9 (8), 603-607 (1998)
   PUBMED   9680377
REFERENCE   10 (bases 1 to 1106)
  AUTHORS   Grewal,P.K., van Deutekom,J.C., Mills,K.A., Lemmers,R.J.,
            Mathews,K.D., Frants,R.R. and Hewitt,J.E.
  TITLE     The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal
            to the myodystrophy mutation on chromosome 8
  JOURNAL   Mamm Genome 8 (6), 394-398 (1997)
   PUBMED   9166581
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BE655768.1, AK077107.1 and BE334154.1.
            
            On Apr 1, 2009 this sequence version replaced NM_013522.2.
            
            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 :: BC002027.1, AK077107.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849382, SAMN01164133
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-74                BE655768.1         1-74
            75-1083             AK077107.1         2-1010
            1084-1106           BE334154.1         9-31                c
FEATURES             Location/Qualifiers
     source          1..1106
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 23.89 cM"
     gene            1..1106
                     /gene="Frg1"
                     /note="FSHD region gene 1"
                     /db_xref="GeneID:14300"
                     /db_xref="MGI:MGI:893597"
     exon            1..219
                     /gene="Frg1"
                     /inference="alignment:Splign:2.1.0"
     CDS             158..934
                     /gene="Frg1"
                     /note="FSHD region gene 1 protein"
                     /codon_start=1
                     /product="protein FRG1"
                     /protein_id="NP_038550.2"
                     /db_xref="CCDS:CCDS22263.1"
                     /db_xref="GeneID:14300"
                     /db_xref="MGI:MGI:893597"
                     /translation="MAEYSYVKSTKLVLKGTKAKSKKKKSKDKKRKREEDEETQLDIV
                     GIWWTVSNFGEISGTIAIEMDKGAYIHALDNGLFTLGAPHREVDEGPSPPEQFTAVKL
                     SDSRIALKSGYGKYLGINSDGLVVGRSDAIGPREQWEPVFQDGKMALLASNSCFIRCN
                     EAGDIEAKNKTAGEEEMIKIRSCAERETKKKDDIPEEDKGSVKQCEINYVKKFQSFQD
                     HKLKISKEDSKILKKARKDGFLHETLLDRRAKLKADRYCK"
     exon            220..290
                     /gene="Frg1"
                     /inference="alignment:Splign:2.1.0"
     exon            291..416
                     /gene="Frg1"
                     /inference="alignment:Splign:2.1.0"
     exon            417..474
                     /gene="Frg1"
                     /inference="alignment:Splign:2.1.0"
     exon            475..589
                     /gene="Frg1"
                     /inference="alignment:Splign:2.1.0"
     exon            590..694
                     /gene="Frg1"
                     /inference="alignment:Splign:2.1.0"
     exon            695..786
                     /gene="Frg1"
                     /inference="alignment:Splign:2.1.0"
     exon            787..897
                     /gene="Frg1"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1088
                     /gene="Frg1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1056..1061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Frg1"
                     /note="hexamer: AATAAA"
     polyA_site      1075
                     /gene="Frg1"
                     /note="major polyA site"
ORIGIN      
        1 gaagcagtaa acaggaagcc ggagaatcgt agccttgggt tgaagaagac cgagagttcc
       61 tcggggactc gctcagctcc ggccgttaga gccacttcct cctcctccca gtcctacgga
      121 agctctgcca gaggctgcca cttcagcgag ccgggccatg gccgaatatt cctatgtaaa
      181 gtccaccaaa ctcgtgctca agggcactaa agccaagagt aaaaagaaaa agagcaaaga
      241 taagaagaga aaacgggaag aagacgagga gacccaactt gatattgtgg gaatctggtg
      301 gactgtatcc aactttgggg agatttcagg aactattgcc attgaaatgg ataaaggagc
      361 ctatatccat gcactggaca atggactgtt tacactggga gctccacaca gagaagttga
      421 tgaaggcccc agtcctccag agcagtttac tgctgtcaag ttgtctgact ccagaattgc
      481 cctgaagtct ggctatggaa aatatcttgg tataaattca gatggacttg ttgttgggcg
      541 ttcggatgca attgggccca gagaacaatg ggaaccagtg tttcaagatg ggaagatggc
      601 tttactggcc tcaaatagct gctttattag atgtaatgaa gcaggcgata tagaagcaaa
      661 gaataagacg gcaggagaag aagaaatgat aaagatcaga tcctgtgcgg aaagagaaac
      721 caagaaaaag gatgacatcc cagaagaaga caagggaagt gtgaagcagt gtgaaatcaa
      781 ctatgtaaag aaatttcaga gcttccagga ccacaaactc aaaataagca aagaagatag
      841 taaaattctt aaaaaggctc ggaaagatgg atttttacat gagacacttc tggacaggag
      901 agccaaattg aaagctgacc gatactgcaa gtgacgtgga cattttgtgt agctttgggt
      961 ttttttctgt ggtttttttt gttgttgttg tttctttctt tctttgtctc ctccctccct
     1021 ctctctctct ctctctctct ctctctctct ctctgaataa aaatatttga tataagtgct
     1081 tttacagaaa aaaaaaaaaa aaaaaa
//
