LOCUS       NM_006168               3472 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens NK6 homeobox 1 (NKX6-1), mRNA.
ACCESSION   NM_006168
VERSION     NM_006168.3
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 3472)
  AUTHORS   Xie,B., Tong,K., Yang,J., Wang,T., Cheng,L., Zeng,S. and Hu,Z.
  TITLE     NKX6-1 Is a Less Sensitive But Specific Biomarker of Chromophobe
            Renal Cell Carcinoma
  JOURNAL   Am J Surg Pathol 46 (6), 809-815 (2022)
   PUBMED   35256556
  REMARK    GeneRIF: NKX6-1 Is a Less Sensitive But Specific Biomarker of
            Chromophobe Renal Cell Carcinoma.
REFERENCE   2  (bases 1 to 3472)
  AUTHORS   Fujita,Y., Kozawa,J., Fukui,K., Iwahashi,H., Eguchi,H. and
            Shimomura,I.
  TITLE     Increased NKX6.1 expression and decreased ARX expression in alpha
            cells accompany reduced beta-cell volume in human subjects
  JOURNAL   Sci Rep 11 (1), 17796 (2021)
   PUBMED   34493754
  REMARK    GeneRIF: Increased NKX6.1 expression and decreased ARX expression
            in alpha cells accompany reduced beta-cell volume in human
            subjects.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3472)
  AUTHORS   Wang,S., Wei,D., Sun,X., Li,Y., Li,D. and Chen,B.
  TITLE     MiR-190b impedes pancreatic beta cell proliferation and insulin
            secretion by targeting NKX6-1 and may associate to gestational
            diabetes mellitus
  JOURNAL   J Recept Signal Transduct Res 41 (4), 349-356 (2021)
   PUBMED   32862769
  REMARK    GeneRIF: MiR-190b impedes pancreatic beta cell proliferation and
            insulin secretion by targeting NKX6-1 and may associate to
            gestational diabetes mellitus.
REFERENCE   4  (bases 1 to 3472)
  AUTHORS   Su,P.H., Huang,R.L., Lai,H.C., Chen,L.Y., Weng,Y.C., Wang,C.C. and
            Wu,C.C.
  TITLE     NKX6-1 mediates cancer stem-like properties and regulates sonic
            hedgehog signaling in leiomyosarcoma
  JOURNAL   J Biomed Sci 28 (1), 32 (2021)
   PUBMED   33906647
  REMARK    GeneRIF: NKX6-1 mediates cancer stem-like properties and regulates
            sonic hedgehog signaling in leiomyosarcoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3472)
  AUTHORS   Aigha,I.I. and Abdelalim,E.M.
  TITLE     NKX6.1 transcription factor: a crucial regulator of pancreatic beta
            cell development, identity, and proliferation
  JOURNAL   Stem Cell Res Ther 11 (1), 459 (2020)
   PUBMED   33121533
  REMARK    GeneRIF: NKX6.1 transcription factor: a crucial regulator of
            pancreatic beta cell development, identity, and proliferation.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3472)
  AUTHORS   Yokoi,N., Kanamori,M., Horikawa,Y., Takeda,J., Sanke,T., Furuta,H.,
            Nanjo,K., Mori,H., Kasuga,M., Hara,K., Kadowaki,T., Tanizawa,Y.,
            Oka,Y., Iwami,Y., Ohgawara,H., Yamada,Y., Seino,Y., Yano,H.,
            Cox,N.J. and Seino,S.
  TITLE     Association studies of variants in the genes involved in pancreatic
            beta-cell function in type 2 diabetes in Japanese subjects
  JOURNAL   Diabetes 55 (8), 2379-2386 (2006)
   PUBMED   16873704
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3472)
  AUTHORS   Hori,Y., Gu,X., Xie,X. and Kim,S.K.
  TITLE     Differentiation of insulin-producing cells from human neural
            progenitor cells
  JOURNAL   PLoS Med 2 (4), e103 (2005)
   PUBMED   15839736
REFERENCE   8  (bases 1 to 3472)
  AUTHORS   Iype,T., Taylor,D.G., Ziesmann,S.M., Garmey,J.C., Watada,H. and
            Mirmira,R.G.
  TITLE     The transcriptional repressor Nkx6.1 also functions as a
            deoxyribonucleic acid context-dependent transcriptional activator
            during pancreatic beta-cell differentiation: evidence for feedback
            activation of the nkx6.1 gene by Nkx6.1
  JOURNAL   Mol Endocrinol 18 (6), 1363-1375 (2004)
   PUBMED   15056733
  REMARK    GeneRIF: Nkx6.1 is a bifunctional transcription factor that serves
            to maintain the specific expression of its own gene during
            beta-cell differentiation while simultaneously effecting broader
            gene repression events
REFERENCE   9  (bases 1 to 3472)
  AUTHORS   Jorgensen,M.C., Vestergard Petersen,H., Ericson,J., Madsen,O.D. and
            Serup,P.
  TITLE     Cloning and DNA-binding properties of the rat pancreatic
            beta-cell-specific factor Nkx6.1
  JOURNAL   FEBS Lett 461 (3), 287-294 (1999)
   PUBMED   10567713
REFERENCE   10 (bases 1 to 3472)
  AUTHORS   Inoue,H., Rudnick,A., German,M.S., Veile,R., Donis-Keller,H. and
            Permutt,M.A.
  TITLE     Isolation, characterization, and chromosomal mapping of the human
            Nkx6.1 gene (NKX6A), a new pancreatic islet homeobox gene
  JOURNAL   Genomics 40 (2), 367-370 (1997)
   PUBMED   9119408
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC096766.3.
            
            On Jul 8, 2020 this sequence version replaced NM_006168.2.
            
            Summary: In the pancreas, NKX6.1 is required for the development of
            beta cells and is a potent bifunctional transcription regulator
            that binds to AT-rich sequences within the promoter region of
            target genes Iype et al. (2004) [PubMed 15056733].[supplied by
            OMIM, Mar 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 :: SRR14038196.342588.1,
                                           SRR14038194.1694778.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295886.5/ ENSP00000295886.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1734              AC096766.3         119025-120758       c
            1735-1907           AC096766.3         117138-117310       c
            1908-3472           AC096766.3         113451-115015       c
FEATURES             Location/Qualifiers
     source          1..3472
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.23"
     gene            1..3472
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /note="NK6 homeobox 1"
                     /db_xref="GeneID:4825"
                     /db_xref="HGNC:HGNC:7839"
                     /db_xref="MIM:602563"
     exon            1..1734
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /inference="alignment:Splign:2.1.0"
     CDS             1065..2168
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /note="NK homeo box, family 6, member A; NK homeobox,
                     family 6, A; homeobox protein NK-6 homolog A; NK6
                     transcription factor homolog A; NK6 transcription factor
                     related, locus 1"
                     /codon_start=1
                     /product="homeobox protein Nkx-6.1"
                     /protein_id="NP_006159.2"
                     /db_xref="CCDS:CCDS3607.1"
                     /db_xref="GeneID:4825"
                     /db_xref="HGNC:HGNC:7839"
                     /db_xref="MIM:602563"
                     /translation="MLAVGAMEGTRQSAFLLSSPPLAALHSMAEMKTPLYPAAYPPLP
                     AGPPSSSSSSSSSSSPSPPLGTHNPGGLKPPATGGLSSLGSPPQQLSAATPHGINDIL
                     SRPSMPVASGAALPSASPSGSSSSSSSSASASSASAAAAAAAAAAAAASSPAGLLAGL
                     PRFSSLSPPPPPPGLYFSPSAAAVAAVGRYPKPLAELPGRTPIFWPGVMQSPPWRDAR
                     LACTPHQGSILLDKDGKRKHTRPTFSGQQIFALEKTFEQTKYLAGPERARLAYSLGMT
                     ESQVKVWFQNRRTKWRKKHAAEMATAKKKQDSETERLKGASENEEEDDDYNKPLDPNS
                     DDEKITQLLKKHKSSSGGGGGLLLHASEPESSS"
     exon            1735..1907
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /inference="alignment:Splign:2.1.0"
     exon            1908..3472
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2693..2698
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /note="hexamer: AATAAA"
     polyA_site      2714
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /note="major polyA site"
     regulatory      3227..3232
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /note="hexamer: CATAAA"
     polyA_site      3252
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
     regulatory      3451..3456
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /note="hexamer: ATTAAA"
     polyA_site      3472
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
ORIGIN      
        1 attacctttg agagcttcat ctgaactgtc aggcccggag ggagagagga aaggagagaa
       61 agagcggagg agccgcggag agggtcagtt tggccagagg acaggactta gaagaccgaa
      121 gcctgggaag ccgcgaagaa aatgccagag aggagagtca aaggctgaga gtgagaggga
      181 gagagggagc gggggtgggg cgggggtcgc cgggcccgtt tgcagaagtg gactgacgag
      241 cggcgccgaa acccagccgt cagacttttc acacttagtc ttttgttttt ctgtgttttt
      301 cctccccctt tttcttttca atattgcaac tccagtgccc cgtgggccag agggcaaggc
      361 gggtggaggt gaggacctgg gagccgcggg gatccgtggc actgcccttt ctggcgcagc
      421 agcccggggc agcgtgggcg gaggaagccc gcacagaggc tagatctccc gcgggctgga
      481 tgcgctttct ccccgggcac agtgagcgtc gaatgcgaat cagccgcgcg accgaaagag
      541 cagagcatcc cagtaagatc agaggagcgc cacgggctgc acaaggcgtc ctttgaacct
      601 ccccaaagaa agcaagccac ccccaccctc caacttcaaa gtggagattc ggcaactaac
      661 tttgctacaa actctccgga gccagcctgg gttttgtttt gcttatttcc cgggggcaga
      721 agatgagaag tagcgcactt tgaacagcta ggaaaagtga ggaagagaga atagccaggg
      781 atcgaatcta ggactcgcgg aacgaaagga ctgcctagcc cgccgggacg cctgcttttc
      841 tcggcgagct gccgcctccc gcgtggaggg tttggacatc tctgctgcgc agctaggcga
      901 gcaactcccg gcagcggcat ttttggttca gttggcagct cgcctccggg cgcgccgagt
      961 gcctctccgc tcgcgccctc ggcgcttccg gctcctctga gccccgcggg gggcaccagc
     1021 cagcgccctc gctgcaaggc tacggtctcc ggcgtggccg tgggatgtta gcggtggggg
     1081 caatggaggg cacccggcag agcgcattcc tgctcagcag ccctcccctg gccgccctgc
     1141 acagcatggc cgagatgaag accccgctgt accctgccgc gtatcccccg ctgcctgccg
     1201 gccccccctc ctcctcgtcc tcgtcgtcgt cctcctcgtc gccctccccg cctctgggca
     1261 cccacaaccc aggcggcctg aagcccccgg ccacgggggg gctctcatcc ctcggcagcc
     1321 ccccgcagca gctctcggcc gccaccccac acggcatcaa cgatatcctg agccggccct
     1381 ccatgcccgt ggcctcgggg gccgccctgc cctccgcctc gccctccggt tcctcctcct
     1441 cctcttcctc gtccgcctct gcctcctccg cctctgccgc cgccgcggct gctgccgcgg
     1501 ccgcagccgc cgcctcatcc ccggcggggc tgctggccgg actgccacgc tttagcagcc
     1561 tgagcccgcc gccgccgccg cccgggctct acttcagccc cagcgccgcg gccgtggccg
     1621 ccgtgggccg gtaccccaag ccgctggctg agctgcctgg ccggacgccc atcttctggc
     1681 ccggagtgat gcagagcccg ccctggaggg acgcacgcct ggcctgtacc cctcatcaag
     1741 gatccatttt gttggacaaa gacgggaaga gaaaacacac gagacccact ttttccggac
     1801 agcagatctt cgccctggag aagactttcg aacaaacaaa atacttggcg gggcccgaga
     1861 gggctcgttt ggcctattcg ttggggatga cagagagtca ggtcaaggtc tggttccaga
     1921 accgccggac caagtggagg aagaagcacg ctgccgagat ggccacggcc aagaagaagc
     1981 aggactcgga gacagagcgc ctcaaggggg cctcggagaa cgaggaagag gacgacgact
     2041 acaataagcc tctggatccc aactcggacg acgagaaaat cacgcagctg ttgaagaagc
     2101 acaagtccag cagcggcggc ggcggcggcc tcctactgca cgcgtccgag ccggagagct
     2161 catcctgaac gccgccgccc gccgcacctt cccggctccg gcctccacct ctggggccgc
     2221 gaggggcgcg gggaccgcgt gcacgccgcg cctgcccgct cctcggggcc cggaggaccc
     2281 ggccctgcct gcggggaccc tttgctattt ttgagatgta catatctatt tttttaacct
     2341 tgaagttgtg ggaggggatg taggggagag agactccggg gttgataagg caagaaagac
     2401 caccaaatgc actgcgtaaa tgtcgctact gaaacccgca gccgggccac ggtcccagcc
     2461 gcgtccccat aggcgggcag cggcctcagc gcccgggtcc ccctcgcccc cagattttgc
     2521 ccccgcgggc ggcggggtag ggggcgccga gaggtgctgt ggaagggttc acgctcaccg
     2581 catgggggac ctcggagcga agcgggcggg cgctgccaca gatgggaaga gggacgtttc
     2641 cccccccaca cactgctgtg caactaaagt aacctgttga aggctctttg taaataaatc
     2701 gtgagttaca ctgactagaa gttactttat tgtgaatatt taaaatgtaa aatgcttttt
     2761 tgaatttcgt ataaaaagat ggactttctt ccttctcctc ctcccctttg aagagcgact
     2821 caagccacac cttccctttt attttgaact taatttgaga agcgtagaat agaatgtccc
     2881 caccttctcc gtcccctcct ctcgttcctc tttcccgttt ggatttgcag aatctcacct
     2941 ttgcccttca tctcttctcg ccctgccctg ccctgcccac cccctggatc tacactgcgc
     3001 tcccgccccc cggacttgaa gtggaagacg tgggaaccag ggagggcctc tcacctgcct
     3061 ccctgttcct ctctgaaatt gcacagtcgt ttgttgctat ttattagtga tttaaagaaa
     3121 atattgggga gggaggggct acaatagctt gtatttaact cctttctgat aaaaatgcgt
     3181 gttaaagtag gtggtgggaa ttgttacaac cgctctgggt ctgaaacata aaaattcatt
     3241 tagttactgt aattgaattt gaagtgtttt gtatcataag aatactatag aatatgtaaa
     3301 ttgttttctt tttacagcta ataatggtga tatattagca tctttaacct ttattaattt
     3361 atataaggaa ttcggtttgt aaagagaaga aaaccccctt tgcaagacca gttaaatgta
     3421 atgcactttc tgtttcaaag gataaatcaa attaaaaaaa acagtttgaa ga
//
