LOCUS       NM_005413               2713 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens SIX homeobox 3 (SIX3), mRNA.
ACCESSION   NM_005413
VERSION     NM_005413.4
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 2713)
  AUTHORS   Bando,H., Brinkmeier,M.L., Castinetti,F., Fang,Q., Lee,M.S.,
            Saveanu,A., Albarel,F., Dupuis,C., Brue,T. and Camper,S.A.
  TITLE     Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone
            deficiency in mouse and man
  JOURNAL   Hum Mol Genet 32 (3), 367-385 (2023)
   PUBMED   35951005
  REMARK    GeneRIF: Heterozygous variants in SIX3 and POU1F1 cause pituitary
            hormone deficiency in mouse and man.
REFERENCE   2  (bases 1 to 2713)
  AUTHORS   Yang,C., Guo,Z., Zhao,Z., Wei,Y., Wang,X. and Song,Y.
  TITLE     miR-4306 Suppresses Proliferation of Esophageal Squamous Cell
            Carcinoma Cell by Targeting SIX3
  JOURNAL   Cell Biochem Biophys 79 (4), 769-779 (2021)
   PUBMED   34021861
  REMARK    GeneRIF: miR-4306 Suppresses Proliferation of Esophageal Squamous
            Cell Carcinoma Cell by Targeting SIX3.
REFERENCE   3  (bases 1 to 2713)
  AUTHORS   Liu,S., Tian,Y., Zheng,Y., Cheng,Y., Zhang,D., Jiang,J. and Li,S.
  TITLE     TRIM27 acts as an oncogene and regulates cell proliferation and
            metastasis in non-small cell lung cancer through SIX3-beta-catenin
            signaling
  JOURNAL   Aging (Albany NY) 12 (24), 25564-25580 (2020)
   PUBMED   33264103
  REMARK    GeneRIF: TRIM27 acts as an oncogene and regulates cell
            proliferation and metastasis in non-small cell lung cancer through
            SIX3-beta-catenin signaling.
REFERENCE   4  (bases 1 to 2713)
  AUTHORS   Mikkola,I., Bruun,J.A., Holm,T. and Johansen,T.
  TITLE     Superactivation of Pax6-mediated transactivation from paired
            domain-binding sites by dna-independent recruitment of different
            homeodomain proteins
  JOURNAL   J Biol Chem 276 (6), 4109-4118 (2001)
   PUBMED   11069920
REFERENCE   5  (bases 1 to 2713)
  AUTHORS   Wallis,D.E., Roessler,E., Hehr,U., Nanni,L., Wiltshire,T.,
            Richieri-Costa,A., Gillessen-Kaesbach,G., Zackai,E.H., Rommens,J.
            and Muenke,M.
  TITLE     Mutations in the homeodomain of the human SIX3 gene cause
            holoprosencephaly
  JOURNAL   Nat Genet 22 (2), 196-198 (1999)
   PUBMED   10369266
REFERENCE   6  (bases 1 to 2713)
  AUTHORS   Leppert,G.S., Yang,J.M. and Sundin,O.H.
  TITLE     Sequence and location of SIX3, a homeobox gene expressed in the
            human eye
  JOURNAL   Ophthalmic Genet 20 (1), 7-21 (1999)
   PUBMED   10415461
REFERENCE   7  (bases 1 to 2713)
  AUTHORS   Granadino,B., Gallardo,M.E., Lopez-Rios,J., Sanz,R., Ramos,C.,
            Ayuso,C., Bovolenta,P. and Rodriguez de Cordoba,S.
  TITLE     Genomic cloning, structure, expression pattern, and chromosomal
            location of the human SIX3 gene
  JOURNAL   Genomics 55 (1), 100-105 (1999)
   PUBMED   9889003
REFERENCE   8  (bases 1 to 2713)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
REFERENCE   9  (bases 1 to 2713)
  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 2713)
  AUTHORS   Hecht,B.K., Hecht,F. and Munke,M.
  TITLE     Forebrain cleavage gene causing holoprosencephaly: deletion mapping
            to chromosome band 2p21
  JOURNAL   Am J Med Genet 40 (1), 130 (1991)
   PUBMED   1887845
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012354.11, AJ012611.1,
            BF570321.1, EL952320.1 and CD673488.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005413.3.
            
            Summary: This gene encodes a member of the sine oculis homeobox
            transcription factor family. The encoded protein plays a role in
            eye development. Mutations in this gene have been associated with
            holoprosencephaly type 2. [provided by RefSeq, Oct 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 exon combination :: AJ012611.1, BF570321.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260653.5/ ENSP00000260653.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-196               AC012354.11        99276-99471
            197-1344            AJ012611.1         1-1148
            1345-1345           BF570321.1         188-188             c
            1346-1893           AJ012611.1         1150-1697
            1894-1953           EL952320.1         423-482
            1954-2098           AC012354.11        102886-103030
            2099-2713           CD673488.1         16-630              c
FEATURES             Location/Qualifiers
     source          1..2713
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..2713
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /note="SIX homeobox 3"
                     /db_xref="GeneID:6496"
                     /db_xref="HGNC:HGNC:10889"
                     /db_xref="MIM:603714"
     exon            1..1209
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /inference="alignment:Splign:2.1.0"
     CDS             404..1402
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /note="sine oculis homeobox homolog 3; sine oculis
                     homeobox-like protein 3"
                     /codon_start=1
                     /product="homeobox protein SIX3"
                     /protein_id="NP_005404.1"
                     /db_xref="CCDS:CCDS1821.1"
                     /db_xref="GeneID:6496"
                     /db_xref="HGNC:HGNC:10889"
                     /db_xref="MIM:603714"
                     /translation="MVFRSPLDLYSSHFLLPNFADSHHRSILLASSGGGNGAGGGGGA
                     GGGSGGGNGAGGGGAGGAGGGGGGGSRAPPEELSMFQLPTLNFSPEQVASVCETLEET
                     GDIERLGRFLWSLPVAPGACEAINKHESILRARAVVAFHTGNFRDLYHILENHKFTKE
                     SHGKLQAMWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTR
                     SLLREWYLQDPYPNPSKKRELAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQHQAIG
                     PSGMRSLAEPGCPTHGSAESPSTAASPTTSVSSLTERADTGTSILSVTSSDSECDV"
     exon            1210..2713
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2687..2692
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /note="hexamer: AATACA"
     polyA_site      2713
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /note="major polyA site"
ORIGIN      
        1 gcactcactg tggatttagg ggagatatta tgaggctgtt gtcattaggg cgattgcggt
       61 ggaatcgctg aatcttgact cggcggtggt tggctctccc tctcctctct ccctctccct
      121 ctccctctct gtctcgggtt ctctctctgc gcgcgcgcac cgggccgctc tcctacctcc
      181 ctctctatgt ggctgcgcgg gtgtgtgtgt gtgtggatgt gtgtggggtg tgggtgtccc
      241 ttacgccctt cctcctctcc ctcctcctcc tgctcccccc tcctttcctt ctcctcctcc
      301 cccctctcct ctccctcctc ctggtcctca tcgcccctct cctcctcttc ctcccctctc
      361 tcttcctctc cctgaatttt ctcctctcct ctcaggtcag tccatggtat tccgctcccc
      421 cctagacctc tattcctccc acttcttgtt gccaaacttc gccgattctc accaccgctc
      481 catacttctg gcgagtagcg gcggcgggaa cggtgcggga ggcggcggcg gcgcgggagg
      541 cggcagcggc ggcgggaacg gtgcgggagg cggcggtgct ggcggagcag gcggcggcgg
      601 cggcggcggc tccagggccc ccccggaaga gttgtccatg ttccagctgc ccaccctcaa
      661 cttctcgccg gagcaggtgg ccagcgtctg tgagacgctg gaggagacgg gcgacatcga
      721 gcggctgggc cgcttcctct ggtcgctgcc cgtggccccc ggggcgtgcg aggccatcaa
      781 caaacacgag tcgatcctgc gcgcgcgcgc cgtggtcgcc ttccacacgg gcaacttccg
      841 cgacctctac cacatccttg agaaccacaa gttcaccaag gagtctcacg gcaagctgca
      901 ggccatgtgg ctcgaggcgc actaccagga ggccgagaag ctgcgcggcc gcccactcgg
      961 cccggtggac aagtaccgcg tgcgcaagaa gttcccgctg ccacgcacca tctgggacgg
     1021 cgagcagaag acgcattgct tcaaggagcg gactcggagc ctgttgcggg agtggtacct
     1081 acaggacccc taccccaacc ccagcaagaa acgcgaactg gcgcaggcca ccggcctcac
     1141 tcccacacaa gtaggcaact ggtttaagaa ccggcggcag cgcgaccgcg ccgcggcggc
     1201 caagaacagg ctccagcacc aggccattgg accgagcggc atgcgctcgc tggccgagcc
     1261 cggctgcccc acgcacggct cggcagagtc gccgtccacg gcggccagcc cgaccaccag
     1321 cgtgtccagc ctgacggagc gcgcagacac cggcacctcc atcctctcgg taacctccag
     1381 cgactcggaa tgtgatgtat gatagccaag gccgccctcc tccctctcct tcccctcctc
     1441 ccccactcct tcccctccgc ctcctagccc tcctcctctt cctcctcttc cttctcctcc
     1501 tccatcccca gaacaaaccg aaatcaggat acccaaccat acacacatac aagtccacac
     1561 acactcccac cccagccaaa aatatataaa aaacaagaaa ataacaaatt aaccgcaaac
     1621 tatcaacaac ccccaaccac catctaccac tacggccacc ccaaaggacc ccgacgccaa
     1681 cagacagtca aacgctgatg ttgcgggcag aaaacataaa agaggtgaca attgtatact
     1741 ttctaggaca agcacggctt ctcctttcgg ttcccatgga cccggcaccc cacctgcatg
     1801 acgatttatt tgtatctggg aaaatattct ctctagttaa aaatgattta aagagtcgac
     1861 tatacaaaaa tcaatcacca ccacgaggac aagagggcaa aagcaaaaca gacaaaaaga
     1921 aaaaaaatcg ccgtctccgt tccgaatttg ttaaaaaaaa aaaaaaaaaa aaaaaaaagg
     1981 acagggggaa aaaaaaaaaa aaagaactcc tggagaggga aatagcaaat gtgtcttgcc
     2041 ttttgttgct ctctctctct ttttttttct ctcgctctct ttctttctct tcttctctct
     2101 gtttttaagt caagtattgg tcaaaaaaat gcaatcttct gttttttgtt cagcagacaa
     2161 tcattttctt cgtaagcacc tttttctctc cactctgtca ctgcctgtgt gggtactggt
     2221 tataaatgtg gaaaaagaat agttatgact gtaacagatt tttattttta tttcaaaatt
     2281 ttatatgaat tatgtatatc ttaatgatcg gtcattttcc cagtttgtaa tatatgtgta
     2341 gaaattgcct gtatatgata ttgctttttc tcctctccct ttctctttct ctcctctccc
     2401 tctctctgtc tttctccccg ctcaactgtc tcttttcttt ttggggttct cctcccactc
     2461 ggtgctcctg gtgtcgactt ggcagtcaag gagaggcatg gtggcctggg ttaggaagag
     2521 ggaccctgtc gctagcaaaa gcggagagtg agattgtagt attcttatgc aaaagctatt
     2581 tccagtattt cttagcagct tcagaggtat ctctcactcc ctgtagggcg cttttactgt
     2641 tatcttaaac tgcgtgttta tctatatgta aaaactttct aaagcaaata cagtattctc
     2701 cattttctta tca
//
