LOCUS       NM_001425142            2668 bp    mRNA    linear   PRI 10-DEC-2024
DEFINITION  Homo sapiens SIX homeobox 1 (SIX1), transcript variant 2, mRNA.
ACCESSION   NM_001425142 XM_017021602 XM_054376625
VERSION     NM_001425142.1
KEYWORDS    RefSeq.
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 2668)
  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 2668)
  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 2668)
  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 2668)
  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 2668)
  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 2668)
  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 2668)
  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 2668)
  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 2668)
  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 2668)
  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.
            
            On or before Oct 28, 2023 this sequence version replaced
            XM_017021602.3, XM_054376625.1.
            
            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].
            
            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 :: SRR14038194.997942.1,
                                           SRR14038197.148049.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-789               AL049874.3         139852-140640       c
            790-2668            AL049874.3         135862-137740       c
FEATURES             Location/Qualifiers
     source          1..2668
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.1"
     gene            1..2668
                     /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..789
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    187..189
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="upstream in-frame stop codon"
     CDS             289..810
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="isoform 2 is encoded by transcript variant 2;
                     homeobox protein SIX1; sine oculis homeobox homolog 1"
                     /codon_start=1
                     /product="homeobox protein SIX1 isoform 2"
                     /protein_id="NP_001412071.1"
                     /db_xref="GeneID:6495"
                     /db_xref="HGNC:HGNC:10887"
                     /db_xref="MIM:601205"
                     /translation="

MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEATGLTTTQGEHRKQ"

     misc_feature    313..642
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="Transcriptional regulator, SIX1, N-terminal SD
                     domain; Region: SIX1_SD; pfam16878"
                     /db_xref="CDD:465293"
     misc_feature    712..>789
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cl00084"
                     /db_xref="CDD:469608"
     exon            790..2668
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2076..2081
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="hexamer: ATTAAA"
     polyA_site      2097
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="major polyA site"
     regulatory      2645..2650
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
                     /note="hexamer: ATTAAA"
     polyA_site      2668
                     /gene="SIX1"
                     /gene_synonym="BOS3; DFNA23; TIP39"
ORIGIN      

aagttccccggcaactagcagcatccaccgggcgggaggtcggaggcagcaaggccttaaaggctactgagtgcgccggccgttccgtgtccagaacctcccctactcctccgccttctcttccttggccgcccaccgccaagttccgactccggttttcgcctttgcaaagcctaaggaggaggttaggaacagccgcgcccccctccctgcggccgccgccccctgcctctcggctctgctccctgccgcgtgcgcctgggccgtgcgccccggcaggccccagccatgtcgatgctgccgtcgtttggctttacgcaggagcaagtggcgtgcgtgtgcgaggttctgcagcaaggcggaaacctggagcgcctgggcaggttcctgtggtcactgcccgcctgcgaccacctgcacaagaacgagagcgtactcaaggccaaggcggtggtcgccttccaccgcggcaacttccgtgagctctacaagatcctggagagccaccagttctcgcctcacaaccaccccaaactgcagcaactgtggctgaaggcgcattacgtggaggccgagaagctgcgcggccgacccctgggcgccgtgggcaaatatcgggtgcgccgaaaatttccactgccgcgcaccatctgggacggcgaggagaccagctactgcttcaaggagaagtcgaggggtgtcctgcgggagtggtacgcgcacaatccctacccatcgccgcgtgagaagcgggagctggccgaggccaccggcctcaccaccacccagggagaacaccgaaaacaataactcctcctccaacaagcagaaccaactctctcctctggaagggggcaagccgctcatgtccagctcagaagaggaattctcacctccccaaagtccagaccagaactcggtccttctgctgcagggcaatatgggccacgccaggagctcaaactattctctcccgggcttaacagcctcgcagcccagtcacggcctgcagacccaccagcatcagctccaagactctctgctcggccccctcacctccagtctggtggacttggggtcctaagtggggagggactggggcctcgaagggattcctggagcagcaaccactgcagcgactagggacacttgtaaatagaaatcaggaacatttttgcagcttgtttctggagttgtttgcgcataaaggaatggtggactttcacaaatatctttttaaaaatcaaaaccaacagcgatctcaagcttaatctcctcttctctccaactctttccacttttgcattttccttcccaatgcagagatcagggaaaaaaaaaaaaaaaaacccaaacaaacaaaagcacccaggcacccagtctgagttctgggcaactgatacgcctgtttcagcagcctttcttttttttcaatgaatgggaattgcaaatcaactggattttcattatttccttttaatttatatatggagaaatgtgaagagggaaaggaaatggaaagagaaagagaaagggagataaaaatagtgaaaataagagcctccaggctcagaagaactgattacattcttaaggtgaacaggaaaaatacaatctataactttctttgatgaggaaaaattaagtttacatttttcatatttagtgttaaacaatttaatgtagattaaaataaaagaccagtattaggaggaaaaaacaagtgcctaaatgtcttaatgctctctatgtgagacagaaatagacgtgaccattagtaatgcaactatttttgtcaaatttagtgggattttttggttgttgtttgttttcttgggttttttttttttaaatgacaaactctaaaaatgtaccaatgtgaaaaaacactttcctgaatgccattactcatgccctcaaagctttcatatctgtagcctactcctgtaaagggtttctcctgtttctagtttctagtttgcaaaggtatgccaacgaatctggcaacctggtatttgttactaaaacagcatgtgttttcaggtttcttttctattgtacctaaagcagtctaaattaaaacttagtagaacaccaggagtatgattctgtttctgaaaggtgagtggtgtattgctgtcattgggccctatttttttttttaaatatatttttctttcttacttaatggtggctgtgaattgcagggtactttgaaggccatcatctgaaccaagagtagtaactagattaattatatgacagaaagagtgaatttagccttggggtatttattaacttctattatttagatatgcaattttgtttaccactatctcttcacagcattcatatgttaactaagctcttttgtgttaacaagtttatgacaagactgtgaaagtaaaaataatttatctgcttgaagacaaaaaagggaaggagaacaaggatagaaacattgtgaattaatttgtacaaatagaaagcagaccagcaggacaggagctcttttgcagtgctgccggatggtgtctagaaaaatcccagtaatcatgtaggctccatattatttttgcctggggcaaaatgatgtatcttctgtatttagcttttaaaattagtgaaacaaatggcattatttattaaaattctactcaggataaca

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