LOCUS       NM_012186               1768 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens forkhead box E3 (FOXE3), mRNA.
ACCESSION   NM_012186 XM_941545
VERSION     NM_012186.3
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 1768)
  AUTHORS   Akbar,W., Ullah,A., Haider,N., Suleman,S., Khan,F.U., Shah,A.A.,
            Sikandar,M.A., Basit,S. and Ahmad,W.
  TITLE     Identification of novel homozygous variants in FOXE3 and AP4M1
            underlying congenital syndromic anophthalmia and microphthalmia
  JOURNAL   J Gene Med 26 (1), e3601 (2024)
   PUBMED   37758467
  REMARK    GeneRIF: Identification of novel homozygous variants in FOXE3 and
            AP4M1 underlying congenital syndromic anophthalmia and
            microphthalmia.
REFERENCE   2  (bases 1 to 1768)
  AUTHORS   Tang,L., Wei,D., Xu,X., Mo,D., Cheng,D. and Yan,F.
  TITLE     FOXO1-regulated lncRNA CYP1B1-AS1 suppresses breast cancer cell
            proliferation by inhibiting neddylation
  JOURNAL   Breast Cancer Res Treat 202 (2), 397-408 (2023)
   PUBMED   37640964
  REMARK    GeneRIF: FOXO1-regulated lncRNA CYP1B1-AS1 suppresses breast cancer
            cell proliferation by inhibiting neddylation.
REFERENCE   3  (bases 1 to 1768)
  AUTHORS   Reis,L.M., Sorokina,E.A., Dudakova,L., Moravikova,J., Skalicka,P.,
            Malinka,F., Seese,S.E., Thompson,S., Bardakjian,T., Capasso,J.,
            Allen,W., Glaser,T., Levin,A.V., Schneider,A., Khan,A., Liskova,P.
            and Semina,E.V.
  TITLE     Comprehensive phenotypic and functional analysis of dominant and
            recessive FOXE3 alleles in ocular developmental disorders
  JOURNAL   Hum Mol Genet 30 (17), 1591-1606 (2021)
   PUBMED   34046667
  REMARK    GeneRIF: Comprehensive phenotypic and functional analysis of
            dominant and recessive FOXE3 alleles in ocular developmental
            disorders.
REFERENCE   4  (bases 1 to 1768)
  AUTHORS   Rashid,M., Qasim,M., Ishaq,R., Bukhari,S.A., Sajid,Z., Ashfaq,U.A.,
            Haque,A. and Ahmed,Z.M.
  TITLE     Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani
            families with clinically heterogeneous eye diseases
  JOURNAL   PLoS One 15 (9), e0239748 (2020)
   PUBMED   32976546
  REMARK    GeneRIF: Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in
            Pakistani families with clinically heterogeneous eye diseases.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1768)
  AUTHORS   Ormestad,M., Blixt,A., Churchill,A., Martinsson,T., Enerback,S. and
            Carlsson,P.
  TITLE     Foxe3 haploinsufficiency in mice: a model for Peters' anomaly
  JOURNAL   Invest Ophthalmol Vis Sci 43 (5), 1350-1357 (2002)
   PUBMED   11980846
REFERENCE   6  (bases 1 to 1768)
  AUTHORS   Semina,E.V., Brownell,I., Mintz-Hittner,H.A., Murray,J.C. and
            Jamrich,M.
  TITLE     Mutations in the human forkhead transcription factor FOXE3
            associated with anterior segment ocular dysgenesis and cataracts
  JOURNAL   Hum Mol Genet 10 (3), 231-236 (2001)
   PUBMED   11159941
REFERENCE   7  (bases 1 to 1768)
  AUTHORS   Blixt,A., Mahlapuu,M., Aitola,M., Pelto-Huikko,M., Enerback,S. and
            Carlsson,P.
  TITLE     A forkhead gene, FoxE3, is essential for lens epithelial
            proliferation and closure of the lens vesicle
  JOURNAL   Genes Dev 14 (2), 245-254 (2000)
   PUBMED   10652278
  REMARK    GeneRIF: FOXE3 is essential for closure of the lens vesicle during
            eye development and for lens epithelial survival and proliferation.
REFERENCE   8  (bases 1 to 1768)
  AUTHORS   Larsson,C., Hellqvist,M., Pierrou,S., White,I., Enerback,S. and
            Carlsson,P.
  TITLE     Chromosomal localization of six human forkhead genes, freac-1
            (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8
            (FKHL12)
  JOURNAL   Genomics 30 (3), 464-469 (1995)
   PUBMED   8825632
REFERENCE   9  (bases 1 to 1768)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (bases 1 to 1768)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF275722.1 and AL607122.20.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_012186.2.
            
            Summary: This intronless gene belongs to the forkhead family of
            transcription factors, which is characterized by a distinct
            forkhead domain. The protein encoded functions as a lens-specific
            transcription factor and plays an important role in vertebrate lens
            formation. Mutations in this gene are associated with anterior
            segment mesenchymal dysgenesis and congenital primary aphakia.
            [provided by RefSeq, Dec 2009].
            
            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 :: AF275722.1, KM433708.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335071.4/ ENSP00000334472.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1065              AF275722.1         225-1289
            1066-1074           AL607122.20        75350-75358
            1075-1768           AF275722.1         1299-1992
FEATURES             Location/Qualifiers
     source          1..1768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     gene            1..1768
                     /gene="FOXE3"
                     /gene_synonym="AAT11; ASGD2; CATC3; CTRCT34; FKHL12;
                     FREAC8"
                     /note="forkhead box E3"
                     /db_xref="GeneID:2301"
                     /db_xref="HGNC:HGNC:3808"
                     /db_xref="MIM:601094"
     exon            1..1768
                     /gene="FOXE3"
                     /gene_synonym="AAT11; ASGD2; CATC3; CTRCT34; FKHL12;
                     FREAC8"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..991
                     /gene="FOXE3"
                     /gene_synonym="AAT11; ASGD2; CATC3; CTRCT34; FKHL12;
                     FREAC8"
                     /note="forkhead, drosophila, homolog-like 12; FREAC-8;
                     forkhead-related protein FKHL12; forkhead-related
                     transcription factor 8"
                     /codon_start=1
                     /product="forkhead box protein E3"
                     /protein_id="NP_036318.1"
                     /db_xref="CCDS:CCDS550.1"
                     /db_xref="GeneID:2301"
                     /db_xref="HGNC:HGNC:3808"
                     /db_xref="MIM:601094"
                     /translation="MAGRSDMDPPAAFSGFPALPAVAPSGPPPSPLAGAEPGREPEEA
                     AAGRGEAAPTPAPGPGRRRRRPLQRGKPPYSYIALIAMALAHAPGRRLTLAAIYRFIT
                     ERFAFYRDSPRKWQNSIRHNLTLNDCFVKVPREPGNPGKGNYWTLDPAAADMFDNGSF
                     LRRRKRFKRAELPAHAAAAPGPPLPFPYAPYAPAPGPALLVPPPSAGPGPSPPARLFS
                     VDSLVNLQPELAGLGAPEPPCCAAPDAAAAAFPPCAAAASPPLYSQVPDRLVLPATRP
                     GPGPLPAEPLLALAGPAAALGPLSPGEAYLRQPGFASGLERYL"
     regulatory      1751..1756
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXE3"
                     /gene_synonym="AAT11; ASGD2; CATC3; CTRCT34; FKHL12;
                     FREAC8"
                     /note="hexamer: AAGAAA"
     polyA_site      1768
                     /gene="FOXE3"
                     /gene_synonym="AAT11; ASGD2; CATC3; CTRCT34; FKHL12;
                     FREAC8"
                     /note="major polyA site"
ORIGIN      
        1 ggagccgcgc gggcaggggc tgccgcagcc gatggcgggg cgcagcgaca tggatccgcc
       61 cgccgcgttc tctggcttcc ctgccctgcc agcggtcgcg ccgtcggggc cgccgccgtc
      121 gccgctcgca ggagccgagc cagggcggga gccagaggag gcggcggctg gccgcggaga
      181 ggcggccccc acgcccgcgc ccggcccggg gcggcggcgg cggcggcccc tgcagcgcgg
      241 gaagccgccc tactcgtaca tcgcgctcat cgccatggct ctggcgcacg ccccgggccg
      301 ccgcctcacg ctggccgcca tctaccgctt catcaccgaa cgctttgcct tctaccgcga
      361 cagcccgcgc aagtggcaga acagcatccg ccacaatctc acgctcaacg actgcttcgt
      421 caaggtgccc cgcgagccgg gcaacccggg caagggcaac tactggacgc tggaccccgc
      481 ggccgcagac atgttcgaca acggcagctt cctgcggcgc cgcaagcgct tcaagcgcgc
      541 cgagctgccc gcgcacgcgg ccgcggcgcc agggccgccg ctccccttcc cctacgcgcc
      601 ctacgcgccc gcgcccggcc ccgcgctgct ggtgccgccg ccttctgccg gaccgggccc
      661 ctcgccgccc gcgcgtctgt tcagcgtcga cagcctggtg aacctgcagc cggagctagc
      721 ggggctgggc gcccccgagc cgccctgctg cgccgcgccc gacgccgcag ccgcagcctt
      781 cccgccctgc gctgccgccg cctccccgcc actctactcg caggtccccg accgcctggt
      841 actgcccgcg acgcgccccg gccccggccc gctgcccgct gagcccctcc tggccttggc
      901 cgggccggca gccgctctcg gcccgctcag ccctggggag gcctacctga ggcagccggg
      961 cttcgcgtcg gggctggagc gctacctgtg agcctgcgcc gcgcgggcag gcacctgtgc
     1021 gacctgtgcc ccggacctgc ggcgccgccc tcgagcgccc catctctacc ccccaccctg
     1081 gcttggagca caccctgcgc ctctcgtcgt ggcctcctgg actcaaactc ctgctacatc
     1141 cttctccgtc ccccatccct ggggaggctc ccaccatctc gccactggac agaagcgtcc
     1201 cctttgacct gccagcctct catttcttct ccctccactt gtgagcgccc ccagctttgc
     1261 ggcgcccccc accccagcgc tgtctgtggg tcccttgccc cggagctgac tcgcctccag
     1321 tgagtccata ccccaggttt cctggtgagt tccaagcctt tggaagccag atctgtgatc
     1381 ccaagccgcc tcctccaccg actgtacttc atcaaccttc tctcatgttt ttccgacact
     1441 cctgggtcag actcctgggt tcatgactta cttgctagcg tcccttcatt ttcccacaag
     1501 tttgcccccc acctccactt acctgtctgc cctcagcttc ttcctgggag agagcccccc
     1561 tttcacgtag acacacctgg ctgccttctt cacgccctga ggacacttct tggagatttc
     1621 agacaggcag caccagggct cctgactgaa aggggagttg gtgggccttt aggtctgccc
     1681 catcccctgg aaaacttagg acttattggg ttattattat ttttaattaa agctggttta
     1741 attaaaaaga aagaaacttt tttctgga
//
