LOCUS       NM_001135649            2841 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens forkhead box I3 (FOXI3), mRNA.
ACCESSION   NM_001135649 XM_001126001 XM_001713929 XM_001719143
VERSION     NM_001135649.3
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 2841)
  AUTHORS   Mao,K., Borel,C., Ansar,M., Jolly,A., Makrythanasis,P.,
            Froehlich,C., Iwaszkiewicz,J., Wang,B., Xu,X., Li,Q., Blanc,X.,
            Zhu,H., Chen,Q., Jin,F., Ankamreddy,H., Singh,S., Zhang,H.,
            Wang,X., Chen,P., Ranza,E., Paracha,S.A., Shah,S.F., Guida,V.,
            Piceci-Sparascio,F., Melis,D., Dallapiccola,B., Digilio,M.C.,
            Novelli,A., Magliozzi,M., Fadda,M.T., Streff,H., Machol,K.,
            Lewis,R.A., Zoete,V., Squeo,G.M., Prontera,P., Mancano,G., Gori,G.,
            Mariani,M., Selicorni,A., Psoni,S., Fryssira,H., Douzgou,S.,
            Marlin,S., Biskup,S., De Luca,A., Merla,G., Zhao,S., Cox,T.C.,
            Groves,A.K., Lupski,J.R., Zhang,Q., Zhang,Y.B. and Antonarakis,S.E.
  TITLE     FOXI3 pathogenic variants cause one form of craniofacial microsomia
  JOURNAL   Nat Commun 14 (1), 2026 (2023)
   PUBMED   37041148
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2841)
  AUTHORS   Quiat,D., Timberlake,A.T., Curran,J.J., Cunningham,M.L.,
            McDonough,B., Artunduaga,M.A., DePalma,S.R., Duenas-Roque,M.M.,
            Gorham,J.M., Gustafson,J.A., Hamdan,U., Hing,A.V.,
            Hurtado-Villa,P., Nicolau,Y., Osorno,G., Pachajoa,H.,
            Porras-Hurtado,G.L., Quintanilla-Dieck,L., Serrano,L., Tumblin,M.,
            Zarante,I., Luquetti,D.V., Eavey,R.D., Heike,C.L., Seidman,J.G. and
            Seidman,C.E.
  TITLE     Damaging variants in FOXI3 cause microtia and craniofacial
            microsomia
  JOURNAL   Genet Med 25 (1), 143-150 (2023)
   PUBMED   36260083
  REMARK    GeneRIF: Damaging variants in FOXI3 cause microtia and craniofacial
            microsomia.
REFERENCE   3  (bases 1 to 2841)
  AUTHORS   Singh,S., Jangid,R.K., Crowder,A. and Groves,A.K.
  TITLE     Foxi3 transcription factor activity is mediated by a C-terminal
            transactivation domain and regulated by the Protein Phosphatase 2A
            (PP2A) complex
  JOURNAL   Sci Rep 8 (1), 17249 (2018)
   PUBMED   30467319
  REMARK    GeneRIF: Data show that Foxi3 contains at least two important
            functional domains, a nuclear localization sequence and a
            C-terminal transactivation domain, and that it directly binds its
            targets in a sequence specific. The transcriptional activity of
            Foxi3 seems to be regulated by phosphorylation, and that the
            activity of Foxi3 can be attenuated by its physical interaction
            with the protein phosphatase 2A (PP2A) complex.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2841)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   5  (bases 1 to 2841)
  AUTHORS   Drogemuller,C., Karlsson,E.K., Hytonen,M.K., Perloski,M., Dolf,G.,
            Sainio,K., Lohi,H., Lindblad-Toh,K. and Leeb,T.
  TITLE     A mutation in hairless dogs implicates FOXI3 in ectodermal
            development
  JOURNAL   Science 321 (5895), 1462 (2008)
   PUBMED   18787161
REFERENCE   6  (bases 1 to 2841)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012671.7, KF459612.1, AA349674.1 and AI201229.1.
            
            On May 20, 2019 this sequence version replaced NM_001135649.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BN001222.1, AA349674.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000428390.3/
                                                ENSP00000478384.2
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-389               AC012671.7         158986-159374       c
            390-514             KF459612.1         1-125
            515-713             AC012671.7         158663-158861       c
            714-841             AA349674.1         98-225
            842-2328            AC012671.7         153982-155468       c
            2329-2841           AI201229.1         16-528              c
FEATURES             Location/Qualifiers
     source          1..2841
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..2841
                     /gene="FOXI3"
                     /gene_synonym="CFM2"
                     /note="forkhead box I3"
                     /db_xref="GeneID:344167"
                     /db_xref="HGNC:HGNC:35123"
                     /db_xref="MIM:612351"
     exon            1..798
                     /gene="FOXI3"
                     /gene_synonym="CFM2"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1421
                     /gene="FOXI3"
                     /gene_synonym="CFM2"
                     /codon_start=1
                     /product="forkhead box protein I3"
                     /protein_id="NP_001129121.1"
                     /db_xref="CCDS:CCDS77433.1"
                     /db_xref="GeneID:344167"
                     /db_xref="HGNC:HGNC:35123"
                     /db_xref="MIM:612351"
                     /translation="MALYCGDNFGVYSQPGLPPPAATAAAPGAPPAARAPYGLADYAA
                     PPAAAANPYLWLNGPGVGGPPSAAAAAAAAYLGAPPPPPPPGAAAGPFLQPPPAAGTF
                     GCSQRPFAQPAPAAPASPAAPAGPGELGWLSMASREDLMKMVRPPYSYSALIAMAIQS
                     APERKLTLSHIYQFVADSFPFYQRSKAGWQNSIRHNLSLNDCFKKVPRDEDDPGKGNY
                     WTLDPNCEKMFDNGNFRRKRKRRSEASNGSTVAAGTSKSEEGLSSGLGSGVGGKPEEE
                     SPSTLLRPSHSPEPPEGTKSTASSPGGPMLTSTPCLNTFFSSLSSLSVSSSVSTQRAL
                     PGSRHLGIQGAQLPSSGVFSPTSISEASADTLQLSNSTSNSTGQRSSYYSPFPASTSG
                     GQSSPFSSPFHNFSMVNSLIYPREGSEV"
     exon            799..2841
                     /gene="FOXI3"
                     /gene_synonym="CFM2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2396..2401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXI3"
                     /gene_synonym="CFM2"
                     /note="hexamer: AATAAA"
     polyA_site      2442
                     /gene="FOXI3"
                     /gene_synonym="CFM2"
                     /note="major polyA site"
ORIGIN      
        1 agcacccgcc cgaccccggc ccggagcacc gggcgcccag cgcgggtgaa ggcggagccg
       61 cagggttggc ccccaaaggg atgctctcgc ccgagcggcg agaccagccc cgctcgcccc
      121 tcgccgcggc cgcgccgcag ccgcccacgg ccgccgacat ggccctctac tgcggcgaca
      181 acttcggagt gtattcgcag cccggcctgc ccccgcccgc cgccaccgcc gccgccccgg
      241 gcgccccccc ggcagccagg gcgccttacg ggctggccga ctacgccgcg ccgccggccg
      301 ccgccgccaa cccctacctg tggctcaacg ggcccggcgt gggaggcccg ccctccgccg
      361 ccgccgcagc cgccgccgcg tacctgggcg ctccgccgcc gccgccgccc cccggggccg
      421 cggccgggcc ctttctgcag ccaccgcctg ccgccggcac cttcggctgc tctcagcggc
      481 ccttcgcgca gcccgcgccc gccgcgcccg cctcgcccgc cgcgcccgcg gggcccgggg
      541 agctgggctg gctgtccatg gccagccgcg aggacctgat gaagatggtg cggccgccct
      601 actcgtattc ggcgctcatc gccatggcca ttcagagcgc gcccgagcgc aaactcactc
      661 tcagccacat ctaccagttc gtcgccgata gcttcccctt ctaccagcgc agcaaggccg
      721 gctggcagaa ctccatccgc cacaacctgt cgctcaacga ctgcttcaag aaggtgcccc
      781 gcgacgagga cgacccagga aagggtaatt attggactct tgatccgaac tgcgagaaaa
      841 tgtttgacaa tgggaacttc cgtcggaagc gaaagcgccg ctctgaggcc agcaatggct
      901 ccacagtggc tgctgggaca tcaaagtccg aagaagggct ctcctcagga ttggggtctg
      961 gagtgggtgg gaagccagaa gaagagagcc cctccactct gctgaggcct tcccactccc
     1021 cagagcctcc ggagggcacc aagagtactg cctcatctcc tggaggaccc atgctcacct
     1081 ccaccccttg tctcaacact ttcttcagca gcctcagctc cttgagtgtc agcagcagtg
     1141 tgagtaccca gcgggctctc cctggcagcc gccacctagg gatccagggg gcccagctgc
     1201 cctccagcgg cgtgttctcc ccgacctcca tctcagaggc ctcagcagac accttgcaac
     1261 tgagcaatag caccagcaat agcaccggcc agagatcttc ctattacagc cctttccctg
     1321 ccagcaccag cggggggcaa agcagcccct tcagcagccc tttccacaac tttagcatgg
     1381 tgaacagcct catctacccc cgagagggct ccgaggtgta gagcagactc tcagacttga
     1441 gtatgcacac ctgaggcgtg cacacatgct gattagaatg cagattccaa gtcagtaggt
     1501 ctggggtagg acctgagttc tgcgtttctg tcgagttcct gggtgatctc gtggtccttt
     1561 gaccacactt ggagtaatga gggtgtagta gataactctt gctacaaccc agcgagcttt
     1621 tacaggtttc tctgcatgtg ggcctctcca gagagaaatc cgtttcactg tcttctgtga
     1681 taggtagcct gtgagccccg tgagggcggg gaccatgtct attttgttta tcactgtatg
     1741 ccaggattgc aagctcaagt gtgtacagat ggctaaaaaa acacaagcca acgaagttac
     1801 tgggtgagaa aactaacatc agttggcaac tgaagcagta gagggtagtt gggactgact
     1861 agtagaaggc tgctgggaac agctggttct ttctctcctc tggcagcatt ctgattttgt
     1921 ttttttggtt ttttttgaca cagtctggct ctgtcgccca ggctggagtg cagtggtgct
     1981 gcaacctccg cctcctgggt tcaagcaatt ctcctgcctt agtcttccgg gtagctggga
     2041 ttacaggtgc ctgccaccac atccagctaa tgttttgtat ttttagtaga gatagggttt
     2101 cgccttgttg gccaggctgg tctcaaactc ctgacctcag gtgatccacc cgcctcggcc
     2161 tcccaaagtg ctgggattac aggtgtgagc cactgcgccc agccagcatt ctgattttta
     2221 tagaagagcc agatatctga atttttatag gaaacctcca actttgtgtc atttgcctct
     2281 gaagattttt ttttggttgt ttatcatact gtcctaggca acaccacaaa tccttgagct
     2341 atgcataggc agctcacaaa tcacctctgt ctggtacatg gtatattcta atggcaataa
     2401 aatggcacaa gcagccttgt gtgccaggca ctgttctcgg cacttgtcat gtattcattt
     2461 aatcctctca gaaaccttgg gtggtgggta ttgttactac cccccatttt ccatgtaagg
     2521 gaagtgaaac ttcaggatgt taggtcactt tgtctatttt agtcatcact gtataccagg
     2581 attgcaagct caaatgtgca caggtggcta aaaaaaagtt gtgaccactt tccaaggtga
     2641 gactgatagt aaactggagc caggatcaga cccagacaat ctggttccag agctggtgct
     2701 tgtaacttct gtattctact tcctgcaaaa ccaagaaacc agcctccata gccagttata
     2761 agtatataga gggaaggaat ggagctagat ctcatttgac caaagattct agttgaaaat
     2821 aaaagtcatc tggtgtgttc c
//
