LOCUS       NM_005257               3624 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens GATA binding protein 6 (GATA6), mRNA.
ACCESSION   NM_005257
VERSION     NM_005257.6
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 3624)
  AUTHORS   Guo,J., Wang,H., Huang,C., Lai,C., Shang,W., Luo,S. and Chen,L.
  TITLE     PLAU, transcriptionally negatively regulated by GATA6, promotes
            lung squamous carcinoma cell proliferation and migration
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (5), 119744 (2024)
   PUBMED   38702016
  REMARK    GeneRIF: PLAU, transcriptionally negatively regulated by GATA6,
            promotes lung squamous carcinoma cell proliferation and migration.
REFERENCE   2  (bases 1 to 3624)
  AUTHORS   Pavlovic,Z.J., Hsin-Yu Pai,A., Hsiao,T.T., Yen,C.F., Alhasan,H.,
            Ozmen,A., New,E.P., Guo,X., Imudia,A.N., Guzeloglu-Kayisli,O.,
            Lockwood,C.J. and Kayisli,U.A.
  TITLE     Dysregulated expression of GATA2 and GATA6 transcription factors in
            adenomyosis: implications for impaired endometrial receptivity
  JOURNAL   F S Sci 5 (1), 92-103 (2024)
   PUBMED   37972693
  REMARK    GeneRIF: Dysregulated expression of GATA2 and GATA6 transcription
            factors in adenomyosis: implications for impaired endometrial
            receptivity.
REFERENCE   3  (bases 1 to 3624)
  AUTHORS   Li,X., Liu,A., Xie,C., Chen,Y., Zeng,K., Xie,C., Zhang,Z., Luo,P.
            and Huang,H.
  TITLE     The transcription factor GATA6 accelerates vascular smooth muscle
            cell senescence-related arterial calcification by counteracting the
            role of anti-aging factor SIRT6 and impeding DNA damage repair
  JOURNAL   Kidney Int 105 (1), 115-131 (2024)
   PUBMED   37914087
  REMARK    GeneRIF: The transcription factor GATA6 accelerates vascular smooth
            muscle cell senescence-related arterial calcification by
            counteracting the role of anti-aging factor SIRT6 and impeding DNA
            damage repair.
REFERENCE   4  (bases 1 to 3624)
  AUTHORS   Yasuhara,J., Manivannan,S.N., Majumdar,U., Gordon,D.M.,
            Lawrence,P.J., Aljuhani,M., Myers,K., Stiver,C., Bigelow,A.M.,
            Galantowicz,M., Yamagishi,H., McBride,K.L., White,P. and Garg,V.
  TITLE     Novel pathogenic GATA6 variant associated with congenital heart
            disease, diabetes mellitus and necrotizing enterocolitis
  JOURNAL   Pediatr Res 95 (1), 146-155 (2024)
   PUBMED   37700164
  REMARK    GeneRIF: Novel pathogenic GATA6 variant associated with congenital
            heart disease, diabetes mellitus and necrotizing enterocolitis.
REFERENCE   5  (bases 1 to 3624)
  AUTHORS   Takeda,M., Obayashi,K., Kobayashi,A. and Maeda,M.
  TITLE     A unique role of an amino terminal 16-residue region of long-type
            GATA-6
  JOURNAL   J Biochem 135 (5), 639-650 (2004)
   PUBMED   15173203
REFERENCE   6  (bases 1 to 3624)
  AUTHORS   Yoshida,T., Sato,R., Mahmood,S., Kawasaki,S., Futai,M. and Maeda,M.
  TITLE     GATA-6 DNA binding protein expressed in human gastric
            adenocarcinoma MKN45 cells
  JOURNAL   FEBS Lett 414 (2), 333-337 (1997)
   PUBMED   9315713
REFERENCE   7  (bases 1 to 3624)
  AUTHORS   Huggon,I.C., Davies,A., Gove,C., Moscoso,G., Moniz,C., Foss,Y.,
            Farzaneh,F. and Towner,P.
  TITLE     Molecular cloning of human GATA-6 DNA binding protein: high levels
            of expression in heart and gut
  JOURNAL   Biochim Biophys Acta 1353 (2), 98-102 (1997)
   PUBMED   9294001
REFERENCE   8  (bases 1 to 3624)
  AUTHORS   Suzuki,E., Evans,T., Lowry,J., Truong,L., Bell,D.W., Testa,J.R. and
            Walsh,K.
  TITLE     The human GATA-6 gene: structure, chromosomal location, and
            regulation of expression by tissue-specific and mitogen-responsive
            signals
  JOURNAL   Genomics 38 (3), 283-290 (1996)
   PUBMED   8975704
REFERENCE   9  (bases 1 to 3624)
  AUTHORS   De Leon,D.D. and Pinney,S.E.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
REFERENCE   10 (bases 1 to 3624)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X95701.1, U66075.1 and
            AU309820.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_005257.5.
            
            Summary: This gene is a member of a small family of zinc finger
            transcription factors that play an important role in the regulation
            of cellular differentiation and organogenesis during vertebrate
            development. This gene is expressed during early embryogenesis and
            localizes to endo- and mesodermally derived cells during later
            embryogenesis and thereby plays an important role in gut, lung, and
            heart development. Mutations in this gene are associated with
            several congenital defects. [provided by RefSeq, Mar 2012].
            
            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 :: X95701.1, SRR14038194.2839021.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269216.10/ ENSP00000269216.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            regulatory uORF        :: PMID: 15173203
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-972               X95701.1           147-1118
            973-3004            U66075.1           751-2782
            3005-3216           X95701.1           3151-3362
            3217-3619           AU309820.1         6-408               c
            3620-3624           X95701.1           3766-3770
FEATURES             Location/Qualifiers
     source          1..3624
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     gene            1..3624
                     /gene="GATA6"
                     /note="GATA binding protein 6"
                     /db_xref="GeneID:2627"
                     /db_xref="HGNC:HGNC:4174"
                     /db_xref="MIM:601656"
     exon            1..94
                     /gene="GATA6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      75..101
                     /regulatory_class="uORF"
                     /gene="GATA6"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:15173203]"
                     /note="this uORF is predicted to encode an 8 aa peptide
                     (PMID:15173203)"
     exon            95..1266
                     /gene="GATA6"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..1919
                     /gene="GATA6"
                     /note="GATA-binding factor 6"
                     /codon_start=1
                     /product="transcription factor GATA-6"
                     /protein_id="NP_005248.2"
                     /db_xref="CCDS:CCDS11872.1"
                     /db_xref="GeneID:2627"
                     /db_xref="HGNC:HGNC:4174"
                     /db_xref="MIM:601656"
                     /translation="MALTDGGWCLPKRFGAAGADASDSRAFPAREPSTPPSPISSSSS
                     SCSRGGERGPGGASNCGTPQLDTEAAAGPPARSLLLSSYASHPFGAPHGPSAPGVAGP
                     GGNLSSWEDLLLFTDLDQAATASKLLWSSRGAKLSPFAPEQPEEMYQTLAALSSQGPA
                     AYDGAPGGFVHSAAAAAAAAAAASSPVYVPTTRVGSMLPGLPYHLQGSGSGPANHAGG
                     AGAHPGWPQASADSPPYGSGGGAAGGGAAGPGGAGSAAAHVSARFPYSPSPPMANGAA
                     REPGGYAAAGSGGAGGVSGGGSSLAAMGGREPQYSSLSAARPLNGTYHHHHHHHHHHP
                     SPYSPYVGAPLTPAWPAGPFETPVLHSLQSRAGAPLPVPRGPSADLLEDLSESRECVN
                     CGSIQTPLWRRDGTGHYLCNACGLYSKMNGLSRPLIKPQKRVPSSRRLGLSCANCHTT
                     TTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMKKEGIQTRKRKPKNINKSKTCSGNS
                     NNSIPMTPTSTSSNSDDCSKNTSPTTQPTASGAGAPVMTGAGESTNPENSELKYSGQD
                     GLYIGVSLASPAEVTSSVRPDSWCALALA"
     exon            1267..1433
                     /gene="GATA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1559
                     /gene="GATA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1560..1647
                     /gene="GATA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1648..1751
                     /gene="GATA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1752..3624
                     /gene="GATA6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2771..2776
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATA6"
                     /note="hexamer: AACAAA"
     polyA_site      2792
                     /gene="GATA6"
     regulatory      3049..3054
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATA6"
                     /note="hexamer: AATAAA"
     polyA_site      3078
                     /gene="GATA6"
                     /note="major polyA site"
     regulatory      3598..3603
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATA6"
                     /note="hexamer: AATACA"
     polyA_site      3624
                     /gene="GATA6"
ORIGIN      
        1 ggactcgcgc tcgcccgctg gcgccctcgg cttctctccg cgcctgggag caccctccgc
       61 cgcggccgtt ctccatgcgc agcgcccgcc cgaggagcta gacgtcagct tggagcggcg
      121 ccggaccgtg gatggccttg actgacggcg gctggtgctt gccgaagcgc ttcggggccg
      181 cgggtgcgga cgccagcgac tccagagcct ttccagcgcg ggagccctcc acgccgcctt
      241 cccccatctc ttcctcgtcc tcctcctgct cccggggcgg agagcggggc cccggcggcg
      301 ccagcaactg cgggacgcct cagctcgaca cggaggcggc ggccggaccc ccggcccgct
      361 cgctgctgct cagttcctac gcttcgcatc ccttcggggc tccccacgga ccttcggcgc
      421 ctggggtcgc gggccccggg ggcaacctgt cgagctggga ggacttgctg ctgttcactg
      481 acctcgacca agccgcgacc gccagcaagc tgctgtggtc cagccgcggc gccaagctga
      541 gccccttcgc acccgagcag ccggaggaga tgtaccagac cctcgccgct ctctccagcc
      601 agggtccggc cgcctacgac ggcgcgcccg gcggcttcgt gcactctgcg gccgcggcgg
      661 cagcagccgc ggcggcggcc agctccccgg tctacgtgcc caccacccgc gtgggttcca
      721 tgctgcccgg cctaccgtac cacctgcagg ggtcgggcag tgggccagcc aaccacgcgg
      781 gcggcgcggg cgcgcacccc ggctggcctc aggcctcggc cgacagccct ccatacggca
      841 gcggaggcgg cgcggctggc ggcggggccg cggggcctgg cggcgctggc tcagccgcgg
      901 cgcacgtctc ggcgcgcttc ccctactctc ccagcccgcc catggccaac ggcgccgcgc
      961 gggagccggg aggctacgcg gcggcgggca gtgggggcgc gggaggcgtg agcggcggcg
     1021 gcagtagcct ggcggccatg ggcggccgcg agccccagta cagctcgctg tcggccgcgc
     1081 ggccgctgaa cgggacgtac caccaccacc accaccacca ccaccaccat ccgagcccct
     1141 actcgcccta cgtgggggcg ccactgacgc ctgcctggcc cgccggaccc ttcgagaccc
     1201 cggtgctgca cagcctgcag agccgcgccg gagccccgct cccggtgccc cggggtccca
     1261 gtgcagacct gctggaggac ctgtccgaga gccgcgagtg cgtgaactgc ggctccatcc
     1321 agacgccgct gtggcggcgg gacggcaccg gccactacct gtgcaacgcc tgcgggctct
     1381 acagcaagat gaacggcctc agccggcccc tcatcaagcc gcagaagcgc gtgccttcat
     1441 cacggcggct tggattgtcc tgtgccaact gtcacaccac aactaccacc ttatggcgca
     1501 gaaacgccga gggtgaaccc gtgtgcaatg cttgtggact ctacatgaaa ctccatgggg
     1561 tgcccagacc acttgctatg aaaaaagagg gaattcaaac caggaaacga aaacctaaga
     1621 acataaataa atcaaagact tgctctggta atagcaataa ttccattccc atgactccaa
     1681 cttccacctc ttctaactca gatgattgca gcaaaaatac ttcccccaca acacaaccta
     1741 cagcctcagg ggcgggtgcc ccggtgatga ctggtgcggg agagagcacc aatcccgaga
     1801 acagcgagct caagtattcg ggtcaagatg ggctctacat aggcgtcagt ctcgcctcgc
     1861 cggccgaagt cacgtcctcc gtgcgaccgg attcctggtg cgccctggcc ctggcctgag
     1921 cccacgccgc caggaggcag ggagggctcc gccgcgggcc tcactccact cgtgtctgct
     1981 tttgtgcagc ggtccagaca gtggcgactg cgctgacaga acgtgattct cgtgccttta
     2041 ttttgaaaga gatgtttttc ccaagaggct tgctgaaaga gtgagagaag atggaaggga
     2101 agggccagtg caactgggcg cttgggccac tccagccagc ccgcctccgg ggcggaccct
     2161 gctccacttc cagaagccag gactaggacc tgggccttgc ctgctatgga atattgagag
     2221 agatttttta aaaaagattt tgcattttgt ccaaaatcat gtgcttcttc tgatcaattt
     2281 tggttgttcc agaatttctt catacctttt ccacatccag atttcatgtg cgttcatgga
     2341 gaagatcact tgaggccatt tggtacacat ctctggaggc tgagtcggtt catgaggtct
     2401 cttatcaaaa atattactca gtttgcaaga ctgcattgta actttaacat acactgtgac
     2461 tgacgtttct caaagttcat attgtgtggc tgatctgaag tcagtcggaa tttgtaaaca
     2521 gggtagcaaa caagatattt ttcttccatg tatacaataa tttttttaaa aagtgcaatt
     2581 tgcgttgcag caatcagtgt taaatcattt gcataagatt taacagcatt ttttataatg
     2641 aatgtaaaca ttttaactta atggtactta aaataattta aaagaaaaat gttaacttag
     2701 acattcttat gcttctttta caactacatc ccattttata tttccaattg ttaaagaaaa
     2761 atatttcaag aacaaatctt ctctcaggaa aattgccttt ctctatttgt taagaatttt
     2821 tatacaagaa caccaatata ccccctttat tttactgtgg aatatgtgct ggaaaaattg
     2881 caacaacact ttactaccta acggatagca tttgtaaata ctctaggtat ctgtaaacac
     2941 tctgatgaag tctgtatagt gtgactaacc cacaggcagg ttggtttaca ttaatttttt
     3001 tttttgaatg ggatgtccta tggaaaccta tttcaccaga gttttaaaaa taaaaagggt
     3061 attgttttgt cttctgtaca gtgagttcct tcccttttca aagctttctt tttatgctgt
     3121 atgtgactat agatattcat ataaaacaag tgcacgtgaa gtttgcaaaa tgctttaagg
     3181 ccttcctttc aaagcatagt ccttttggag ccgttttgta ccttttatac cttggcttat
     3241 ttgaagttga cacatggggt tagttactac tctccatgtg cattggggac agtttttata
     3301 agtgggaagg actcagtatt attatatttg agatgataag cattttgttt gggaacaatg
     3361 cttaaaaata ttccagaaag ttcagatttt ttttctttgt gaatgaaata tattctggcc
     3421 cacgaacagg gcgatttcct ttcagttttt tccttttgca acgtgccttg aagtctcaaa
     3481 gctcacctga ggttgcagac gttaccccca acagaagata ggtagaaatg attccagtgg
     3541 cctctttgta ttttcttcat tgttgagtag atttcaggaa atcaggaggt gtttcacaat
     3601 acagaatgat ggcctttaac tgtg
//
