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2024-03-29 14:15:02, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_006168               1116 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens NK6 homeobox 1 (NKX6-1), mRNA.
ACCESSION   NM_006168
VERSION     NM_006168.2  GI:111120317
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 1116)
  AUTHORS   Mamaeva,D., Ripoll,C., Bony,C., Teigell,M., Perrin,F.E.,
            Rothhut,B., Bieche,I., Lidereau,R., Privat,A., Rigau,V.,
            Guillon,H., Vachiery-Lahaye,F., Noel,D., Bauchet,L. and Hugnot,J.P.
  TITLE     Isolation of mineralizing Nestin+ Nkx6.1+ vascular muscular cells
            from the adult human spinal cord
  JOURNAL   BMC Neurosci 12, 99 (2011)
   PUBMED   21985235
  REMARK    GeneRIF: Smooth muscle cells expressing nestin and Nkx6.1 are the
            main cell population derived from culturing human spinal cord cells
            in adherent conditions with serum.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1116)
  AUTHORS   Gefen-Halevi,S., Rachmut,I.H., Molakandov,K., Berneman,D., Mor,E.,
            Meivar-Levy,I. and Ferber,S.
  TITLE     NKX6.1 promotes PDX-1-induced liver to pancreatic beta-cells
            reprogramming
  JOURNAL   Cell Reprogram 12 (6), 655-664 (2010)
   PUBMED   21108535
  REMARK    GeneRIF: Data suggest that NKX6.1 activates immature pancreatic
            markers but not pancreatic hormone gene expression in human liver
            cells, and suggest a potential role for NKX6.1 in promoting PDX-1
            reprogrammed maturation along a beta-cell-like lineage.
REFERENCE   3  (bases 1 to 1116)
  AUTHORS   Donelan,W., Koya,V., Li,S.W. and Yang,L.J.
  TITLE     Distinct regulation of hepatic nuclear factor 1alpha by NKX6.1 in
            pancreatic beta cells
  JOURNAL   J. Biol. Chem. 285 (16), 12181-12189 (2010)
   PUBMED   20106981
  REMARK    GeneRIF: identified an NKX6.1 recognition sequence in the distal
            region of the HNF1alpha promoter and demonstrated specific binding
            of NKX6.1 in beta cells
REFERENCE   4  (bases 1 to 1116)
  AUTHORS   Zhu,S., Xia,H.H., Yang,Y., Ma,J., Chen,M., Hu,P., Gu,Q., Liang,Y.,
            Lin,H. and Wong,B.C.
  TITLE     Alterations of gastric homeoprotein expression in Helicobacter
            pylori infection, incisural antralisation, and intestinal
            metaplasia
  JOURNAL   Dig. Dis. Sci. 54 (5), 996-1002 (2009)
   PUBMED   18754095
  REMARK    GeneRIF: Alterations of gastric NKX6.1 expression in Helicobacter
            pylori infection, incisural antralisation, and intestinal
            metaplasia.
REFERENCE   5  (bases 1 to 1116)
  AUTHORS   Schisler,J.C., Fueger,P.T., Babu,D.A., Hohmeier,H.E., Tessem,J.S.,
            Lu,D., Becker,T.C., Naziruddin,B., Levy,M., Mirmira,R.G. and
            Newgard,C.B.
  TITLE     Stimulation of human and rat islet beta-cell proliferation with
            retention of function by the homeodomain transcription factor
            Nkx6.1
  JOURNAL   Mol. Cell. Biol. 28 (10), 3465-3476 (2008)
   PUBMED   18347054
  REMARK    GeneRIF: overexpression of Nkx6.1 in islets caused an increase in
            the level of [(3)H]thymidine incorporation that was twice the
            control level, along with complete retention of glucose-stimulated
            insulin secretion
REFERENCE   6  (bases 1 to 1116)
  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 1116)
  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 1116)
  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 1116)
  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 1116)
  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
            U66797.1, AC096766.3, U66798.1 and U66799.1.
            On Aug 3, 2006 this sequence version replaced gi:5453787.
            
            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].
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns ERS025084,
                              ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-300               U66797.1           1-300
            301-307             AC096766.3         119394-119400       c
            308-676             U66797.1           308-676
            677-849             U66798.1           7-179
            850-1116            U66799.1           7-273
FEATURES             Location/Qualifiers
     source          1..1116
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.33"
     gene            1..1116
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /note="NK6 homeobox 1"
                     /db_xref="GeneID:4825"
                     /db_xref="HGNC:7839"
                     /db_xref="MIM:602563"
     STS             1..1116
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /db_xref="UniSTS:481848"
     exon            1..676
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:367744315"
     CDS             7..1110
                     /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="GI:111120318"
                     /db_xref="CCDS:CCDS3607.1"
                     /db_xref="GeneID:4825"
                     /db_xref="HGNC:7839"
                     /db_xref="MIM:602563"
                     /translation="
MLAVGAMEGTRQSAFLLSSPPLAALHSMAEMKTPLYPAAYPPLPAGPPSSSSSSSSSSSPSPPLGTHNPGGLKPPATGGLSSLGSPPQQLSAATPHGINDILSRPSMPVASGAALPSASPSGSSSSSSSSASASSASAAAAAAAAAAAAASSPAGLLAGLPRFSSLSPPPPPPGLYFSPSAAAVAAVGRYPKPLAELPGRTPIFWPGVMQSPPWRDARLACTPHQGSILLDKDGKRKHTRPTFSGQQIFALEKTFEQTKYLAGPERARLAYSLGMTESQVKVWFQNRRTKWRKKHAAEMATAKKKQDSETERLKGASENEEEDDDYNKPLDPNSDDEKITQLLKKHKSSSGGGGGLLLHASEPESSS
"
     misc_feature    310..810
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P78426.2);
                     Region: Repressor domain (By similarity)"
     misc_feature    715..891
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /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; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(715..729,733..735,784..786,802..804,841..843,
                     847..852,859..864,868..876,880..885)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(721..723,730..732,850..852,859..864,871..873)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    922..1107
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P78426.2);
                     Region: Involved in DNA-binding (By similarity)"
     variation       complement(30)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374001076"
     variation       complement(53)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374301540"
     variation       complement(88)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201655481"
     variation       complement(90)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369821275"
     variation       complement(110)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201007716"
     variation       complement(243)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:371770743"
     variation       complement(262)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:373841554"
     variation       complement(468)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141490572"
     variation       complement(576)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189519658"
     variation       complement(659)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199629267"
     exon            677..849
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(707)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:144073689"
     variation       complement(722)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370071295"
     variation       complement(723)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:111718959"
     variation       complement(787)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377234787"
     exon            850..1116
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(897)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140353706"
     variation       complement(909)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147737825"
     variation       complement(918)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373335616"
     variation       complement(933)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:202149574"
     variation       complement(948)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200968120"
     variation       complement(950)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369226825"
     variation       complement(963)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201751400"
     variation       complement(973)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200037772"
     variation       complement(981)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200148742"
     variation       complement(982)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:200695937"
     variation       complement(1014)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201225646"
     variation       complement(1026)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369343185"
     variation       complement(1043)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182911773"
     variation       complement(1060)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200051548"
     variation       complement(1069)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:143458004"
     variation       complement(1080)
                     /gene="NKX6-1"
                     /gene_synonym="NKX6.1; NKX6A"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374937515"
ORIGIN      
cgtgggatgttagcggtgggggcaatggagggcacccggcagagcgcattcctgctcagcagccctcccctggccgccctgcacagcatggccgagatgaagaccccgctgtaccctgccgcgtatcccccgctgcctgccggccccccctcctcctcgtcctcgtcgtcgtcctcctcgtcgccctccccgcctctgggcacccacaacccaggcggcctgaagcccccggccacgggggggctctcatccctcggcagccccccgcagcagctctcggccgccaccccacacggcatcaacgatatcctgagccggccctccatgcccgtggcctcgggggccgccctgccctccgcctcgccctccggttcctcctcctcctcttcctcgtccgcctctgcctcctccgcctctgccgccgccgcggctgctgccgcggccgcagccgccgcctcatccccggcggggctgctggccggactgccacgctttagcagcctgagcccgccgccgccgccgcccgggctctacttcagccccagcgccgcggccgtggccgccgtgggccggtaccccaagccgctggctgagctgcctggccggacgcccatcttctggcccggagtgatgcagagcccgccctggagggacgcacgcctggcctgtacccctcatcaaggatccattttgttggacaaagacgggaagagaaaacacacgagacccactttttccggacagcagatcttcgccctggagaagactttcgaacaaacaaaatacttggcggggcccgagagggctcgtttggcctattcgttggggatgacagagagtcaggtcaaggtctggttccagaaccgccggaccaagtggaggaagaagcacgctgccgagatggccacggccaagaagaagcaggactcggagacagagcgcctcaagggggcctcggagaacgaggaagaggacgacgactacaataagcctctggatcccaactcggacgacgagaaaatcacgcagctgttgaagaagcacaagtccagcagcggcggcggcggcggcctcctactgcacgcgtccgagccggagagctcatcctgaacgccg
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:4825 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA
            GeneID:4825 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA
            GeneID:4825 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:4825 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: ISS
            GeneID:4825 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:4825 -> Biological process: GO:0007224 [smoothened signaling pathway] evidence: IEA
            GeneID:4825 -> Biological process: GO:0008283 [cell proliferation] evidence: IEA
            GeneID:4825 -> Biological process: GO:0009887 [organ morphogenesis] evidence: TAS
            GeneID:4825 -> Biological process: GO:0021912 [regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification] evidence: IEA
            GeneID:4825 -> Biological process: GO:0021913 [regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification] evidence: IEA
            GeneID:4825 -> Biological process: GO:0031016 [pancreas development] evidence: ISS
            GeneID:4825 -> Biological process: GO:0031018 [endocrine pancreas development] evidence: TAS
            GeneID:4825 -> Biological process: GO:0032024 [positive regulation of insulin secretion] evidence: IEA
            GeneID:4825 -> Biological process: GO:0035094 [response to nicotine] evidence: IEA
            GeneID:4825 -> Biological process: GO:0042493 [response to drug] evidence: IEA
            GeneID:4825 -> Biological process: GO:0045666 [positive regulation of neuron differentiation] evidence: IEA
            GeneID:4825 -> Biological process: GO:0045686 [negative regulation of glial cell differentiation] evidence: IEA
            GeneID:4825 -> Biological process: GO:0045687 [positive regulation of glial cell differentiation] evidence: IEA
            GeneID:4825 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: ISS
            GeneID:4825 -> Biological process: GO:0048709 [oligodendrocyte differentiation] evidence: IEA
            GeneID:4825 -> Biological process: GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity] evidence: ISS
            GeneID:4825 -> Biological process: GO:0051594 [detection of glucose] evidence: ISS
            GeneID:4825 -> Biological process: GO:0071345 [cellular response to cytokine stimulus] evidence: IEA
            GeneID:4825 -> Biological process: GO:0071375 [cellular response to peptide hormone stimulus] evidence: IEA
            GeneID:4825 -> Biological process: GO:0072560 [type B pancreatic cell maturation] evidence: ISS
            GeneID:4825 -> Biological process: GO:2000078 [positive regulation of type B pancreatic cell development] evidence: ISS
            GeneID:4825 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:4825 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA

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