LOCUS       NM_005249               3491 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens forkhead box G1 (FOXG1), mRNA.
ACCESSION   NM_005249
VERSION     NM_005249.5
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 3491)
  AUTHORS   Mazel,B., Delanne,J., Garde,A., Racine,C., Bruel,A.L., Duffourd,Y.,
            Lopergolo,D., Santorelli,F.M., Marchi,V., Pinto,A.M.,
            Mencarelli,M.A., Canitano,R., Valentino,F., Papa,F.T.,
            Fallerini,C., Mari,F., Renieri,A., Munnich,A., Niclass,T., Le
            Guyader,G., Thauvin-Robinet,C., Philippe,C. and Faivre,L.
  TITLE     FOXG1 variants can be associated with milder phenotypes than
            congenital Rett syndrome with unassisted walking and language
            development
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 195 (6), e32970 (2024)
   PUBMED   38459409
  REMARK    GeneRIF: FOXG1 variants can be associated with milder phenotypes
            than congenital Rett syndrome with unassisted walking and language
            development.
REFERENCE   2  (bases 1 to 3491)
  AUTHORS   Robertson,F.L., O'Duibhir,E., Gangoso,E., Bressan,R.B.,
            Bulstrode,H., Marques-Torrejon,M.A., Ferguson,K.M., Blin,C.,
            Grant,V., Alfazema,N., Morrison,G.M. and Pollard,S.M.
  TITLE     Elevated FOXG1 in glioblastoma stem cells cooperates with
            Wnt/beta-catenin to induce exit from quiescence
  JOURNAL   Cell Rep 42 (6), 112561 (2023)
   PUBMED   37243590
  REMARK    GeneRIF: Elevated FOXG1 in glioblastoma stem cells cooperates with
            Wnt/beta-catenin to induce exit from quiescence.
REFERENCE   3  (bases 1 to 3491)
  AUTHORS   Brea-Fernandez,A.J., Souto-Trinei,F.A., Iglesias,E., Caamano,P.,
            Rodriguez Sanchez,B., Gomez Lado,C., Eiris,J., Fernandez-Prieto,M.,
            Barros,F., Brea,R.J. and Carracedo,A.
  TITLE     Expanding the Clinical and Molecular Spectrum of FOXG1- and
            ZBTB18-Associated Neurodevelopmental Disorders
  JOURNAL   Cytogenet Genome Res 163 (5-6), 301-306 (2023)
   PUBMED   38056433
  REMARK    GeneRIF: Expanding the Clinical and Molecular Spectrum of FOXG1-
            and ZBTB18-Associated Neurodevelopmental Disorders.
REFERENCE   4  (bases 1 to 3491)
  AUTHORS   Li,J., Chang,H.W., Lai,E., Parker,E.J. and Vogt,P.K.
  TITLE     The oncogene qin codes for a transcriptional repressor
  JOURNAL   Cancer Res 55 (23), 5540-5544 (1995)
   PUBMED   7585630
REFERENCE   5  (bases 1 to 3491)
  AUTHORS   Wiese,S., Murphy,D.B., Schlung,A., Burfeind,P., Schmundt,D.,
            Schnulle,V., Mattei,M.G. and Thies,U.
  TITLE     The genes for human brain factor 1 and 2, members of the fork head
            gene family, are clustered on chromosome 14q
  JOURNAL   Biochim Biophys Acta 1262 (2-3), 105-112 (1995)
   PUBMED   7599184
REFERENCE   6  (bases 1 to 3491)
  AUTHORS   Pierrou,S., Hellqvist,M., Samuelsson,L., Enerback,S. and
            Carlsson,P.
  TITLE     Cloning and characterization of seven human forkhead proteins:
            binding site specificity and DNA bending
  JOURNAL   EMBO J 13 (20), 5002-5012 (1994)
   PUBMED   7957066
REFERENCE   7  (bases 1 to 3491)
  AUTHORS   Murphy,D.B., Wiese,S., Burfeind,P., Schmundt,D., Mattei,M.G.,
            Schulz-Schaeffer,W. and Thies,U.
  TITLE     Human brain factor 1, a new member of the fork head gene family
  JOURNAL   Genomics 21 (3), 551-557 (1994)
   PUBMED   7959731
REFERENCE   8  (bases 1 to 3491)
  AUTHORS   Kastury,K., Li,J., Druck,T., Su,H., Vogt,P.K., Croce,C.M. and
            Huebner,K.
  TITLE     The human homologue of the retroviral oncogene qin maps to
            chromosome 14q13
  JOURNAL   Proc Natl Acad Sci U S A 91 (9), 3616-3618 (1994)
   PUBMED   8170957
REFERENCE   9  (bases 1 to 3491)
  AUTHORS   Li,J. and Vogt,P.K.
  TITLE     The retroviral oncogene qin belongs to the transcription factor
            family that includes the homeotic gene fork head
  JOURNAL   Proc Natl Acad Sci U S A 90 (10), 4490-4494 (1993)
   PUBMED   8099441
REFERENCE   10 (bases 1 to 3491)
  AUTHORS   Brockmann,K. and Staudt,M.
  TITLE     FOXG1 Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   38843374
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049777.5, X74142.1,
            DR001113.1, BC035020.2 and U44097.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005249.4.
            
            Summary: This locus encodes a member of the fork-head transcription
            factor family. The encoded protein, which functions as a
            transcriptional repressor, is highly expressed in neural tissues
            during brain development. Mutations at this locus have been
            associated with Rett syndrome and a diverse spectrum of
            neurodevelopmental disorders defined as part of the FOXG1 syndrome.
            This gene is disregulated in many types of cancer and is the target
            of multiple microRNAs that regulate the proliferation of tumor
            cells. [provided by RefSeq, Jul 2020].
            
            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 is intronless :: BC035020.2, ERR279867.2446.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313071.7/ ENSP00000339004.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-285               AL049777.5         92427-92711
            286-343             X74142.1           9-66
            344-575             DR001113.1         157-388
            576-737             BC035020.2         125-286
            738-738             DR001113.1         551-551
            739-2876            BC035020.2         288-2425
            2877-3402           AL049777.5         95303-95828
            3403-3491           U44097.1           60-148
FEATURES             Location/Qualifiers
     source          1..3491
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..3491
                     /gene="FOXG1"
                     /gene_synonym="BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3;
                     FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3;
                     HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN"
                     /note="forkhead box G1"
                     /db_xref="GeneID:2290"
                     /db_xref="HGNC:HGNC:3811"
                     /db_xref="MIM:164874"
     exon            1..3491
                     /gene="FOXG1"
                     /gene_synonym="BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3;
                     FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3;
                     HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             494..1963
                     /gene="FOXG1"
                     /gene_synonym="BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3;
                     FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3;
                     HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN"
                     /note="brain factor 2; oncogene QIN; forkhead-like 1;
                     forkhead-like 2; forkhead-like 3; forkhead-like 4; brain
                     factor 1"
                     /codon_start=1
                     /product="forkhead box protein G1"
                     /protein_id="NP_005240.3"
                     /db_xref="CCDS:CCDS9636.1"
                     /db_xref="GeneID:2290"
                     /db_xref="HGNC:HGNC:3811"
                     /db_xref="MIM:164874"
                     /translation="MLDMGDRKEVKMIPKSSFSINSLVPEAVQNDNHHASHGHHNSHH
                     PQHHHHHHHHHHHPPPPAPQPPPPPQQQQPPPPPPPAPQPPQTRGAPAADDDKGPQQL
                     LLPPPPPPPPAAALDGAKADGLGGKGEPGGGPGELAPVGPDEKEKGAGAGGEEKKGAG
                     EGGKDGEGGKEGEKKNGKYEKPPFSYNALIMMAIRQSPEKRLTLNGIYEFIMKNFPYY
                     RENKQGWQNSIRHNLSLNKCFVKVPRHYDDPGKGNYWMLDPSSDDVFIGGTTGKLRRR
                     STTSRAKLAFKRGARLTSTGLTFMDRAGSLYWPMSPFLSLHHPRASSTLSYNGTTSAY
                     PSHPMPYSSVLTQNSLGNNHSFSTANGLSVDRLVNGEIPYATHHLTAAALAASVPCGL
                     SVPCSGTYSLNPCSVNLLAGQTSYFFPHVPHPSMTSQSSTSMSARAASSSTSPQAPST
                     LPCESLRPSLPSFTTGLSGGLSDYFTHQNQGSSSNPLIH"
     regulatory      2858..2863
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXG1"
                     /gene_synonym="BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3;
                     FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3;
                     HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN"
                     /note="hexamer: AATAAA"
     polyA_site      2866
                     /gene="FOXG1"
                     /gene_synonym="BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3;
                     FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3;
                     HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN"
                     /note="major polyA site"
     polyA_site      2883
                     /gene="FOXG1"
                     /gene_synonym="BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3;
                     FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3;
                     HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN"
                     /note="major polyA site"
     regulatory      3464..3469
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXG1"
                     /gene_synonym="BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3;
                     FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3;
                     HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN"
                     /note="hexamer: AATAAA"
     polyA_site      3491
                     /gene="FOXG1"
                     /gene_synonym="BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3;
                     FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3;
                     HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN"
ORIGIN      
        1 aattgtggct atagccgcct cgatcgctgt ctccccagcc tcgccgcggc cgctccggga
       61 cgcgcccgcc cgccgcccgg ctctcccccc ctttgggctg ctgctgctgc tgctgtgact
      121 gctgctgcga gaggaggagg aggaggagga agcagcgggg gggggagcgg ggggtggggg
      181 gggagaccaa gaagtacagt tgggagcgag ggagcttcac ccccggggcg gtggttgttt
      241 cttttttctt tctttctttt ttcttttcct tttttttttt ttttctaatt cctgaggggt
      301 ggttgctgct tttgctacat gacttgccag cgcccgagcc tgcggtccaa ctgcgctgct
      361 gccggagcgc tcagtgccgc cgctgccgcc cgcgcccccc gcgccccgtt cggcacccac
      421 cggtcgccgc cgcccgccgc gccgctgtcc cgctcccgcg ccgccgccgc cgtttccccc
      481 cgacgactgg gtgatgctgg acatgggaga taggaaagag gtgaaaatga tccccaagtc
      541 ctcgttcagc atcaacagcc tggtgcccga ggcggtccag aacgacaacc accacgcgag
      601 ccacggccac cacaacagcc accaccccca gcaccaccac caccaccacc accatcacca
      661 ccacccgccg ccgcccgccc cgcaaccgcc gccgccgccg cagcagcagc agccgccgcc
      721 gccgccgccc ccggcaccgc agccccccca gacgcggggc gccccggccg ccgacgacga
      781 caagggcccc cagcagctgc tgctcccgcc gccgccaccg ccaccaccgg ccgccgccct
      841 ggacggggct aaagcggacg ggctgggcgg caagggcgag ccgggcggcg ggccggggga
      901 gctggcgccc gtcgggccgg acgagaagga gaagggcgcc ggcgccgggg gggaggagaa
      961 gaagggggcg ggcgagggcg gcaaggacgg ggaggggggc aaggagggcg agaagaagaa
     1021 cggcaagtac gagaagccgc cgttcagcta caacgcgctc atcatgatgg ccatccggca
     1081 gagccccgag aagcggctca cgctcaacgg catctacgag ttcatcatga agaacttccc
     1141 ttactaccgc gagaacaagc agggctggca gaactccatc cgccacaatc tgtccctcaa
     1201 caagtgcttc gtgaaggtgc cgcgccacta cgacgacccg ggcaagggca actactggat
     1261 gctggacccg tcgagcgacg acgtgttcat cggcggcacc acgggcaagc tgcggcgccg
     1321 ctccaccacc tcgcgggcca agctggcctt caagcgcggt gcgcgcctca cctccaccgg
     1381 cctcaccttc atggaccgcg ccggctccct ctactggccc atgtcgccct tcctgtccct
     1441 gcaccacccc cgcgccagca gcactttgag ttacaacggc accacgtcgg cctaccccag
     1501 ccaccccatg ccctacagct ccgtgttgac tcagaactcg ctgggcaaca accactcctt
     1561 ctccaccgcc aacggcctga gcgtggaccg gctggtcaac ggggagatcc cgtacgccac
     1621 gcaccacctc acggccgccg cgctagccgc ctcggtgccc tgcggcctgt cggtgccctg
     1681 ctctgggacc tactccctca acccctgctc cgtcaacctg ctcgcgggcc agaccagtta
     1741 ctttttcccc cacgtcccgc acccgtcaat gacttcgcag agcagcacgt ccatgagcgc
     1801 cagggccgcg tcctcctcca cgtcgccgca ggccccctcg accctgccct gtgagtcttt
     1861 aagaccctct ttgccaagtt ttacgacggg actgtctggg ggactgtctg attatttcac
     1921 acatcaaaat caggggtctt cttccaaccc tttaatacat taacatccct gggaccagac
     1981 tgtaagtgaa cgttttacac acatttgcat tgtaaatgat aattaaaaaa ataagtccag
     2041 gtatttttta ttaagccccc ccctcccatt tctgtacgtt tgttcagtct ctagggttgt
     2101 ttattattct aacaaggtgt ggagtgtcag cgaggtgcaa tgtggggaga atacattgta
     2161 gaatataagg tttggaagtc aaattatagt agaatgtgta tctaaatagt gactgctttg
     2221 ccatttcatt caaacctgac aagtctatct ctaagagccg ccagatttcc atgtgtgcag
     2281 tattataagt tatcatggaa ctatatggtg gacgcagacc ttgagaacaa cctaaattat
     2341 ggggagaatt ttaaaatgtt aaactgtaat ttgtatttaa aaagcattcg tagtaaaggt
     2401 gcccaagaaa ttattttggc catttattgt tttgtccttt tctttaaaga actgtttttt
     2461 tttcttttgt ttacttttag accaaagatt gggttctaga aaatgcactt ggtatactaa
     2521 gtattaaaac aaacaaaaag gaaagttgtt tcagttggca acactgccca ttcaattgaa
     2581 tcagaagggg acaaaattaa cgattgcctt cagtttgtgt tgtgtatatt ttgatgtatg
     2641 tggtcactaa caggtcactt ttattttttc taaatgtagt gaaatgttaa tacctattgt
     2701 acttataggt aaaccttgca aatatgtaac ctgtgttgcg caaatgccgc ataaatttga
     2761 gtgattgtta atgttgtctt aaaatttctt gattgtgata ctgtggtcat atgcccgtgt
     2821 ttgtcactta caaaaatgtt tactatgaac acacagaaat aaaaaatagg ctaaattcat
     2881 atatatcttg atacttttgt ctcttttatt aagtagagct aattttttaa agaccaatca
     2941 acttataggg aattcaaagg ctttttcagc caaactaaaa tttaaactgc tcctttaatt
     3001 tgaactgact ctaaaaatga aaatagtatt tttccctttg tgaacaaatt ttacaaggag
     3061 cagcctattt aataaacact agctttaaac aaagtatagg cttttcagct gatacctgta
     3121 agtttctgtg gatatacagc aaaaagagat ataatttaat tttctgtgca tagctcttta
     3181 ccctgtgttt atttccaaat ccattaatag aatgccattt atatattttg tttcaggtat
     3241 attgttaata gagcttggca aattataaat aaatatatgt atatggttag atagaagtga
     3301 ctataatgca cacatatgta atatatatag acacacagag cccttcagtt caggtacaat
     3361 ttgcgctatg aatgctgcaa acatttttgt ttaaatattt gtatttatac tttctaagtc
     3421 agcatttatt tttgtggctg tttacccaca atgaaagagt tctaataaag atgtgctgaa
     3481 gttgcaatat a
//
