LOCUS       NM_004477                978 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens FSHD region gene 1 (FRG1), mRNA.
ACCESSION   NM_004477
VERSION     NM_004477.3
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 978)
  AUTHORS   Shubhanjali,S., Mohapatra,T., Khan,R. and Dixit,M.
  TITLE     Unveiling FRG1's DNA repair role in breast cancer
  JOURNAL   Sci Rep 14 (1), 19371 (2024)
   PUBMED   39169067
  REMARK    GeneRIF: Unveiling FRG1's DNA repair role in breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 978)
  AUTHORS   Khan,R., Palo,A. and Dixit,M.
  TITLE     Role of FRG1 in predicting the overall survivability in cancers
            using multivariate based optimal model
  JOURNAL   Sci Rep 11 (1), 22505 (2021)
   PUBMED   34795329
  REMARK    GeneRIF: Role of FRG1 in predicting the overall survivability in
            cancers using multivariate based optimal model.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 978)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 978)
  AUTHORS   Tiwari,A., Mukherjee,B., Hassan,M.K., Pattanaik,N., Jaiswal,A.M.
            and Dixit,M.
  TITLE     Reduced FRG1 expression promotes prostate cancer progression and
            affects prostate cancer cell migration and invasion
  JOURNAL   BMC Cancer 19 (1), 346 (2019)
   PUBMED   30975102
  REMARK    GeneRIF: FRG1 expression is reduced in prostate adenocarcinoma
            tissue. FRG1 expression affects migration and invasion in AR
            negative prostate cancer cells through known MMPs and cytokines,
            which may be mediated primarily via p38 MAPK activation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 978)
  AUTHORS   Yang,B., Li,J., Li,F., Zhou,H., Shi,W., Shi,H., Sun,S., Sun,W.,
            Wang,J., Ma,J., Yan,X., Hu,Y. and Jiao,S.
  TITLE     Comprehensive analysis of age-related somatic mutation profiles in
            Chinese young lung adenocarcinoma patients
  JOURNAL   Cancer Med 8 (4), 1350-1358 (2019)
   PUBMED   30821106
  REMARK    GeneRIF: Mutations in FRG1 and KMT2C were found to be associated
            with a younger age especially after correcting for tobacco smoking
            and sex in Chinese patients with lung adenocarcinoma.
REFERENCE   6  (bases 1 to 978)
  AUTHORS   Gevaert,K., Goethals,M., Martens,L., Van Damme,J., Staes,A.,
            Thomas,G.R. and Vandekerckhove,J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   7  (bases 1 to 978)
  AUTHORS   Jurica,M.S., Licklider,L.J., Gygi,S.R., Grigorieff,N. and
            Moore,M.J.
  TITLE     Purification and characterization of native spliceosomes suitable
            for three-dimensional structural analysis
  JOURNAL   RNA 8 (4), 426-439 (2002)
   PUBMED   11991638
REFERENCE   8  (bases 1 to 978)
  AUTHORS   van Geel,M., Heather,L.J., Lyle,R., Hewitt,J.E., Frants,R.R. and de
            Jong,P.J.
  TITLE     The FSHD region on human chromosome 4q35 contains potential coding
            regions among pseudogenes and a high density of repeat elements
  JOURNAL   Genomics 61 (1), 55-65 (1999)
   PUBMED   10512680
REFERENCE   9  (bases 1 to 978)
  AUTHORS   Fisher,J. and Upadhyaya,M.
  TITLE     Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)
  JOURNAL   Neuromuscul Disord 7 (1), 55-62 (1997)
   PUBMED   9132141
  REMARK    Review article
REFERENCE   10 (bases 1 to 978)
  AUTHORS   van Deutekom,J.C., Lemmers,R.J., Grewal,P.K., van Geel,M.,
            Romberg,S., Dauwerse,H.G., Wright,T.J., Padberg,G.W., Hofker,M.H.,
            Hewitt,J.E. and Frants,R.R.
  TITLE     Identification of the first gene (FRG1) from the FSHD region on
            human chromosome 4q35
  JOURNAL   Hum Mol Genet 5 (5), 581-590 (1996)
   PUBMED   8733123
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC053997.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004477.2.
            
            Summary: This gene maps to a location 100 kb centromeric of the
            repeat units on chromosome 4q35 which are deleted in
            facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily
            conserved and has related sequences on multiple human chromosomes
            but DNA sequence analysis did not reveal any homology to known
            genes. In vivo studies demonstrate the encoded protein is localized
            to the nucleolus. [provided by RefSeq, Jul 2008].
            
            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 :: BC053997.1, AK291890.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000226798.9/ ENSP00000226798.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-978               BC053997.1         11-988
FEATURES             Location/Qualifiers
     source          1..978
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.2"
     gene            1..978
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /note="FSHD region gene 1"
                     /db_xref="GeneID:2483"
                     /db_xref="HGNC:HGNC:3954"
                     /db_xref="MIM:601278"
     exon            1..200
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             139..915
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /note="facioscapulohumeral muscular dystrophy region
                     gene-1; FSHD region gene 1 protein"
                     /codon_start=1
                     /product="protein FRG1"
                     /protein_id="NP_004468.1"
                     /db_xref="CCDS:CCDS34121.1"
                     /db_xref="GeneID:2483"
                     /db_xref="HGNC:HGNC:3954"
                     /db_xref="MIM:601278"
                     /translation="MAEYSYVKSTKLVLKGTKTKSKKKKSKDKKRKREEDEETQLDIV
                     GIWWTVTNFGEISGTIAIEMDKGTYIHALDNGLFTLGAPHKEVDEGPSPPEQFTAVKL
                     SDSRIALKSGYGKYLGINSDGLVVGRSDAIGPREQWEPVFQNGKMALLASNSCFIRCN
                     EAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQD
                     HKLKISKEDSKILKKARKDGFLHETLLDRRAKLKADRYCK"
     exon            201..271
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /inference="alignment:Splign:2.1.0"
     exon            272..397
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /inference="alignment:Splign:2.1.0"
     exon            398..455
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /inference="alignment:Splign:2.1.0"
     exon            456..570
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /inference="alignment:Splign:2.1.0"
     exon            571..675
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /inference="alignment:Splign:2.1.0"
     exon            676..767
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /inference="alignment:Splign:2.1.0"
     exon            768..878
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /inference="alignment:Splign:2.1.0"
     exon            879..978
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      959..964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /note="hexamer: AATAAA"
     polyA_site      978
                     /gene="FRG1"
                     /gene_synonym="FRG1A; FSG1"
                     /note="major polyA site"
ORIGIN      
        1 gggttctaca gagacgtagg ctgtcaggga gtgtttattt cgcgtccgct tctgtttctc
       61 cgcgcccctg tgctgccccg actcacatac tcgtccagaa ccggcctcag cctctccgcg
      121 cagaagtttc ccggagccat ggccgagtac tcctacgtga agtctaccaa gctcgtgctc
      181 aagggaacca agacgaagag taagaagaaa aagagcaaag ataagaaaag aaaaagagaa
      241 gaagatgaag aaacccagct tgatattgtt ggaatctggt ggacagtaac aaactttggt
      301 gaaatttcag gaaccatagc cattgaaatg gataagggaa cctatataca tgcactcgac
      361 aatggtcttt ttaccctggg agctccacac aaagaagttg atgagggccc tagtcctcca
      421 gagcagttta cggctgtcaa attatctgat tccagaatcg ccctgaagtc tggctatgga
      481 aaatatcttg gtataaattc agatggactt gttgttgggc gttcagatgc aattggacca
      541 agagaacaat gggaaccagt ctttcaaaat gggaaaatgg ctttgttggc ctcaaatagc
      601 tgctttatta gatgcaatga agcaggggac atagaagcaa aaagtaaaac agcaggagaa
      661 gaagaaatga tcaagattag atcctgtgct gaaagagaaa ccaagaaaaa agatgacatt
      721 ccagaagaag acaaaggaaa tgtaaaacaa tgtgaaatca attatgtaaa gaaatttcag
      781 agcttccaag accacaaact taaaataagt aaagaagaca gtaaaattct taaaaaggct
      841 cggaaagatg gatttttgca tgagacgctt ctggacagga gagccaaatt gaaagccgac
      901 agatactgca agtgactggg atttttgttt ctgccttatc tttctgtgtt tttttctgaa
      961 taaaatattc agaggaaa
//
