LOCUS       NM_005982               4005 bp    mRNA    linear   PRI 10-DEC-2024
DEFINITION  Homo sapiens SIX homeobox 1 (SIX1), transcript variant 1, mRNA.
ACCESSION   NM_005982
VERSION     NM_005982.4
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 4005)
  AUTHORS   Huang,S., Hu,J., Hu,M., Hou,Y., Zhang,B., Liu,J., Liu,X., Chen,Z.
            and Wang,L.
  TITLE     Cooperation between SIX1 and DHX9 transcriptionally regulates
            integrin-focal adhesion signaling mediated metastasis and sunitinib
            resistance in KIRC
  JOURNAL   Oncogene 43 (39), 2951-2969 (2024)
   PUBMED   39174859
  REMARK    GeneRIF: Cooperation between SIX1 and DHX9 transcriptionally
            regulates integrin-focal adhesion signaling mediated metastasis and
            sunitinib resistance in KIRC.
REFERENCE   2  (bases 1 to 4005)
  AUTHORS   Zhang,P., Zhang,W., Wang,X., Li,L., Lin,Y., Wu,N., Mao,R., Lin,J.,
            Kang,M. and Ding,C.
  TITLE     BCLAF1 drives esophageal squamous cell carcinoma progression
            through regulation of YTHDF2-dependent SIX1 mRNA degradation
  JOURNAL   Cancer Lett 591, 216874 (2024)
   PUBMED   38636894
  REMARK    GeneRIF: BCLAF1 drives esophageal squamous cell carcinoma
            progression through regulation of YTHDF2-dependent SIX1 mRNA
            degradation.
REFERENCE   3  (bases 1 to 4005)
  AUTHORS   Guo,L., Li,F., Liu,H., Kong,D., Chen,C. and Sun,S.
  TITLE     SIX1 amplification modulates stemness and tumorigenesis in breast
            cancer
  JOURNAL   J Transl Med 21 (1), 866 (2023)
   PUBMED   38031089
  REMARK    GeneRIF: SIX1 amplification modulates stemness and tumorigenesis in
            breast cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4005)
  AUTHORS   Stevenson,M.J., Phanor,S.K., Patel,U., Gisselbrecht,S.S.,
            Bulyk,M.L. and O'Brien,L.L.
  TITLE     Altered binding affinity of SIX1-Q177R correlates with enhanced
            WNT5A and WNT pathway effector expression in Wilms tumor
  JOURNAL   Dis Model Mech 16 (11) (2023)
   PUBMED   37815464
  REMARK    GeneRIF: Altered binding affinity of SIX1-Q177R correlates with
            enhanced WNT5A and WNT pathway effector expression in Wilms tumor.
REFERENCE   5  (bases 1 to 4005)
  AUTHORS   Salam,A.A., Hafner,F.M., Linder,T.E., Spillmann,T., Schinzel,A.A.
            and Leal,S.M.
  TITLE     A novel locus (DFNA23) for prelingual autosomal dominant
            nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German
            kindred
  JOURNAL   Am J Hum Genet 66 (6), 1984-1988 (2000)
   PUBMED   10777717
REFERENCE   6  (bases 1 to 4005)
  AUTHORS   Ford,H.L., Kabingu,E.N., Bump,E.A., Mutter,G.L. and Pardee,A.B.
  TITLE     Abrogation of the G2 cell cycle checkpoint associated with
            overexpression of HSIX1: a possible mechanism of breast
            carcinogenesis
  JOURNAL   Proc Natl Acad Sci U S A 95 (21), 12608-12613 (1998)
   PUBMED   9770533
REFERENCE   7  (bases 1 to 4005)
  AUTHORS   Boucher,C.A., Carey,N., Edwards,Y.H., Siciliano,M.J. and
            Johnson,K.J.
  TITLE     Cloning of the human SIX1 gene and its assignment to chromosome 14
  JOURNAL   Genomics 33 (1), 140-142 (1996)
   PUBMED   8617500
REFERENCE   8  (bases 1 to 4005)
  AUTHORS   Oliver,G., Wehr,R., Jenkins,N.A., Copeland,N.G., Cheyette,B.N.,
            Hartenstein,V., Zipursky,S.L. and Gruss,P.
  TITLE     Homeobox genes and connective tissue patterning
  JOURNAL   Development 121 (3), 693-705 (1995)
   PUBMED   7720577
REFERENCE   9  (bases 1 to 4005)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   10 (bases 1 to 4005)
  AUTHORS   Smith,R.J.H.
  TITLE     Branchiootorenal Spectrum Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301554
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049874.3, BC008874.2 and
            X91868.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005982.3.
            
            Summary: The protein encoded by this gene is a homeobox protein
            that is similar to the Drosophila 'sine oculis' gene product. This
            gene is found in a cluster of related genes on chromosome 14 and is
            thought to be involved in limb development. Defects in this gene
            are a cause of autosomal dominant deafness type 23 (DFNA23) and
            branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul
            2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: SRR14038195.1197315.1,
                                           SRR14038197.2205261.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000645694.3/ ENSP00000494686.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AL049874.3         140601-140640       c
            41-582              BC008874.2         1-542
            583-1391            X91868.1           570-1378
            1392-2727           AL049874.3         135862-137197       c
            2728-4005           AL049874.3         134584-135861       c
FEATURES             Location/Qualifiers
     source          1..4005
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.1"
     gene            1..4005
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="SIX homeobox 1"
                     /db_xref="GeneID:6495"
                     /db_xref="HGNC:HGNC:10887"
                     /db_xref="MIM:601205"
     exon            1..848
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /inference="alignment:Splign:2.1.0"
     CDS             289..1143
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homeobox protein SIX1; sine oculis homeobox homolog 1"
                     /codon_start=1
                     /product="homeobox protein SIX1 isoform 1"
                     /protein_id="NP_005973.1"
                     /db_xref="CCDS:CCDS9748.1"
                     /db_xref="GeneID:6495"
                     /db_xref="HGNC:HGNC:10887"
                     /db_xref="MIM:601205"
                     /translation="MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLH
                     KNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLRGRP
                     LGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEA
                     TGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEE
                     EFSPPQSPDQNSVLLLQGNMGHARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLT
                     SSLVDLGS"
     exon            849..4005
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2135..2140
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="hexamer: ATTAAA"
     polyA_site      2156
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="major polyA site"
     regulatory      2704..2709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="hexamer: ATTAAA"
     polyA_site      2727
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
     regulatory      2840..2845
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="hexamer: AATATA"
     polyA_site      2859
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
ORIGIN      
        1 aagttccccg gcaactagca gcatccaccg ggcgggaggt cggaggcagc aaggccttaa
       61 aggctactga gtgcgccggc cgttccgtgt ccagaacctc ccctactcct ccgccttctc
      121 ttccttggcc gcccaccgcc aagttccgac tccggttttc gcctttgcaa agcctaagga
      181 ggaggttagg aacagccgcg cccccctccc tgcggccgcc gccccctgcc tctcggctct
      241 gctccctgcc gcgtgcgcct gggccgtgcg ccccggcagg ccccagccat gtcgatgctg
      301 ccgtcgtttg gctttacgca ggagcaagtg gcgtgcgtgt gcgaggttct gcagcaaggc
      361 ggaaacctgg agcgcctggg caggttcctg tggtcactgc ccgcctgcga ccacctgcac
      421 aagaacgaga gcgtactcaa ggccaaggcg gtggtcgcct tccaccgcgg caacttccgt
      481 gagctctaca agatcctgga gagccaccag ttctcgcctc acaaccaccc caaactgcag
      541 caactgtggc tgaaggcgca ttacgtggag gccgagaagc tgcgcggccg acccctgggc
      601 gccgtgggca aatatcgggt gcgccgaaaa tttccactgc cgcgcaccat ctgggacggc
      661 gaggagacca gctactgctt caaggagaag tcgaggggtg tcctgcggga gtggtacgcg
      721 cacaatccct acccatcgcc gcgtgagaag cgggagctgg ccgaggccac cggcctcacc
      781 accacccagg tcagcaactg gtttaagaac cggaggcaaa gagaccgggc cgcggaggcc
      841 aaggaaaggg agaacaccga aaacaataac tcctcctcca acaagcagaa ccaactctct
      901 cctctggaag ggggcaagcc gctcatgtcc agctcagaag aggaattctc acctccccaa
      961 agtccagacc agaactcggt ccttctgctg cagggcaata tgggccacgc caggagctca
     1021 aactattctc tcccgggctt aacagcctcg cagcccagtc acggcctgca gacccaccag
     1081 catcagctcc aagactctct gctcggcccc ctcacctcca gtctggtgga cttggggtcc
     1141 taagtgggga gggactgggg cctcgaaggg attcctggag cagcaaccac tgcagcgact
     1201 agggacactt gtaaatagaa atcaggaaca tttttgcagc ttgtttctgg agttgtttgc
     1261 gcataaagga atggtggact ttcacaaata tctttttaaa aatcaaaacc aacagcgatc
     1321 tcaagcttaa tctcctcttc tctccaactc tttccacttt tgcattttcc ttcccaatgc
     1381 agagatcagg gaaaaaaaaa aaaaaaaacc caaacaaaca aaagcaccca ggcacccagt
     1441 ctgagttctg ggcaactgat acgcctgttt cagcagcctt tctttttttt caatgaatgg
     1501 gaattgcaaa tcaactggat tttcattatt tccttttaat ttatatatgg agaaatgtga
     1561 agagggaaag gaaatggaaa gagaaagaga aagggagata aaaatagtga aaataagagc
     1621 ctccaggctc agaagaactg attacattct taaggtgaac aggaaaaata caatctataa
     1681 ctttctttga tgaggaaaaa ttaagtttac atttttcata tttagtgtta aacaatttaa
     1741 tgtagattaa aataaaagac cagtattagg aggaaaaaac aagtgcctaa atgtcttaat
     1801 gctctctatg tgagacagaa atagacgtga ccattagtaa tgcaactatt tttgtcaaat
     1861 ttagtgggat tttttggttg ttgtttgttt tcttgggttt ttttttttta aatgacaaac
     1921 tctaaaaatg taccaatgtg aaaaaacact ttcctgaatg ccattactca tgccctcaaa
     1981 gctttcatat ctgtagccta ctcctgtaaa gggtttctcc tgtttctagt ttctagtttg
     2041 caaaggtatg ccaacgaatc tggcaacctg gtatttgtta ctaaaacagc atgtgttttc
     2101 aggtttcttt tctattgtac ctaaagcagt ctaaattaaa acttagtaga acaccaggag
     2161 tatgattctg tttctgaaag gtgagtggtg tattgctgtc attgggccct attttttttt
     2221 ttaaatatat ttttctttct tacttaatgg tggctgtgaa ttgcagggta ctttgaaggc
     2281 catcatctga accaagagta gtaactagat taattatatg acagaaagag tgaatttagc
     2341 cttggggtat ttattaactt ctattattta gatatgcaat tttgtttacc actatctctt
     2401 cacagcattc atatgttaac taagctcttt tgtgttaaca agtttatgac aagactgtga
     2461 aagtaaaaat aatttatctg cttgaagaca aaaaagggaa ggagaacaag gatagaaaca
     2521 ttgtgaatta atttgtacaa atagaaagca gaccagcagg acaggagctc ttttgcagtg
     2581 ctgccggatg gtgtctagaa aaatcccagt aatcatgtag gctccatatt atttttgcct
     2641 ggggcaaaat gatgtatctt ctgtatttag cttttaaaat tagtgaaaca aatggcatta
     2701 tttattaaaa ttctactcag gataacagga ttggcttgct tgtgctttgt aaaatattgt
     2761 tccccaggga gaatctattt attttctgac atgacagttt cataattttg attttttccc
     2821 atctataatt gtcaccatta atatattatt tctttcttac tctttcctat ttctgttctg
     2881 gtctagaaaa ctgaggtgtg cttggggaaa tcaaggcctt attttttaaa actgtcaaat
     2941 agctttgagt tccagggaga aatggtcact gtacttaact gtacacactt ttacttataa
     3001 agtcgttttt ccccctcagt gatggacaga tgtgcacaca gccactcaga gaccatcatt
     3061 tggtttggga gctcagggtc ccaatctccc ttgttagtgt tttggatcat taagtcggtg
     3121 tttatttaag tcactagggt gtttattctc cctgtcttgg gccacggaga aatgccaccc
     3181 tctgcaggag gggctctcac agggaatctc ctcacattct tcacattcac tccccaaaac
     3241 aaacaccctg cacaaagata gctttcaatg accctgacag gcttcaaagg acgctgcgga
     3301 aatctctctg gaaaatagga agggccaatt actttaattt cttacatgcc gtctcttcct
     3361 actccggtga ctaccctcca ctctcccagc tccgcctggg ataattttag gctcgtggaa
     3421 gttgtgtctc gcagggcgcc ccggcccact tcctgctccc ttagttggtg aatcttggaa
     3481 atgtctgcag atccggcgag gagcaagagc gctggtcctg taaaagcccc cgtgattact
     3541 gcttgtaaac ttgttaaaag gacaattttc tgtcacagtc ataaactctt tgtaaaaccc
     3601 ctggcactaa atccagagcg cgcatattcc agatgtgttt aataagaaat tgcacaatgt
     3661 gcctccttcc gccatcctcg gctcagtctg ggtaaaaggg gcgagcagga ggaggcgaga
     3721 aagctggata ttgctttgag tttttttggc aatcatttca gagagatcat taggggaaac
     3781 taaccatatt tttttcttcc ctcgaggaaa tcttcgagaa ccagctgtta agggacctcc
     3841 agtttacctt ctgggcgtcg cagtttaact gaatctaaag ccacttttcg tttctcctct
     3901 acagatgtca taacggtagc caaaagtaat gaacaacggc ttataaatag tttgtaggac
     3961 gaaaccatac agcattgtgc caagtgaaat gaaaaaaaaa aaaaa
//
