LOCUS       NM_000458               2790 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.
ACCESSION   NM_000458
VERSION     NM_000458.4
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 2790)
  AUTHORS   Sanchez-Cazorla,E., Carrera,N. and Garcia-Gonzalez,M.A.
  TITLE     HNF1B Transcription Factor: Key Regulator in Renal Physiology and
            Pathogenesis
  JOURNAL   Int J Mol Sci 25 (19), 10609 (2024)
   PUBMED   39408938
  REMARK    GeneRIF: HNF1B Transcription Factor: Key Regulator in Renal
            Physiology and Pathogenesis.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2790)
  AUTHORS   Maestro,M.A., Cardalda,C., Boj,S.F., Luco,R.F., Servitja,J.M. and
            Ferrer,J.
  TITLE     Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating
            pancreas development, beta-cell function and growth
  JOURNAL   Endocr Dev 12, 33-45 (2007)
   PUBMED   17923767
  REMARK    GeneRIF: Findings implicate HNF1beta as a regulator of pancreas
            organogenesis and differentiation. [REVIEW]
            Review article
REFERENCE   3  (bases 1 to 2790)
  AUTHORS   Senkel,S., Lucas,B., Klein-Hitpass,L. and Ryffel,G.U.
  TITLE     Identification of target genes of the transcription factor HNF1beta
            and HNF1alpha in a human embryonic kidney cell line
  JOURNAL   Biochim Biophys Acta 1731 (3), 179-190 (2005)
   PUBMED   16297991
  REMARK    GeneRIF: we propose that HNF1beta overexpression in the ovarian
            cancer participates in the altered expression pattern
REFERENCE   4  (bases 1 to 2790)
  AUTHORS   Horikawa,Y., Iwasaki,N., Hara,M., Furuta,H., Hinokio,Y.,
            Cockburn,B.N., Lindner,T., Yamagata,K., Ogata,M., Tomonaga,O.,
            Kuroki,H., Kasahara,T., Iwamoto,Y. and Bell,G.I.
  TITLE     Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated
            with MODY
  JOURNAL   Nat Genet 17 (4), 384-385 (1997)
   PUBMED   9398836
REFERENCE   5  (bases 1 to 2790)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   6  (bases 1 to 2790)
  AUTHORS   Mitchel,M.W., Moreno-De-Luca,D., Myers,S.M., Levy,R.V., Turner,S.,
            Ledbetter,D.H. and Martin,C.L.
  TITLE     17q12 Recurrent Deletion Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27929632
REFERENCE   7  (bases 1 to 2790)
  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   8  (bases 1 to 2790)
  AUTHORS   Bach,I., Mattei,M.G., Cereghini,S. and Yaniv,M.
  TITLE     Two members of an HNF1 homeoprotein family are expressed in human
            liver
  JOURNAL   Nucleic Acids Res 19 (13), 3553-3559 (1991)
   PUBMED   1677179
REFERENCE   9  (bases 1 to 2790)
  AUTHORS   Mendel,D.B., Hansen,L.P., Graves,M.K., Conley,P.B. and
            Crabtree,G.R.
  TITLE     HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo
            domains, but not activation domains, and form heterodimers in vitro
  JOURNAL   Genes Dev 5 (6), 1042-1056 (1991)
   PUBMED   2044952
REFERENCE   10 (bases 1 to 2790)
  AUTHORS   Abbott,C., Piaggio,G., Ammendola,R., Solomon,E., Povey,S.,
            Gounari,F., De Simone,V. and Cortese,R.
  TITLE     Mapping of the gene TCF2 coding for the transcription factor LFB3
            to human chromosome 17 by polymerase chain reaction
  JOURNAL   Genomics 8 (1), 165-167 (1990)
   PUBMED   2081590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC017714.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000458.3.
            
            Summary: This gene encodes a member of the homeodomain-containing
            superfamily of transcription factors. The protein binds to DNA as
            either a homodimer, or a heterodimer with the related protein
            hepatocyte nuclear factor 1-alpha. The gene has been shown to
            function in nephron development, and regulates development of the
            embryonic pancreas. Mutations in this gene result in renal cysts
            and diabetes syndrome and noninsulin-dependent diabetes mellitus,
            and expression of this gene is altered in some types of cancer.
            Multiple transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC017714.1, X58840.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000617811.5/ ENSP00000480291.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2790              BC017714.1         14-2803
FEATURES             Location/Qualifiers
     source          1..2790
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..2790
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="HNF1 homeobox B"
                     /db_xref="GeneID:6928"
                     /db_xref="HGNC:HGNC:11630"
                     /db_xref="MIM:189907"
     exon            1..519
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             176..1849
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hepatocyte nuclear factor 1-beta; transcription factor 2,
                     hepatic; HNF1 beta A; homeoprotein LFB3"
                     /codon_start=1
                     /product="hepatocyte nuclear factor 1-beta isoform 1"
                     /protein_id="NP_000449.1"
                     /db_xref="CCDS:CCDS11324.1"
                     /db_xref="GeneID:6928"
                     /db_xref="HGNC:HGNC:11630"
                     /db_xref="MIM:189907"
                     /translation="MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLE
                     TLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNTEE
                     AAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM
                     KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQ
                     SDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVEECNRAECLQR
                     GVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGS
                     PHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPG
                     HNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQSLNT
                     SQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPFMAAVTQLQ
                     NSHMYAHKQEPPQYSHTSRFPSAMVVTDTSSISTLTNMSSSKQCPLQAW"
     exon            520..719
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /inference="alignment:Splign:2.1.0"
     exon            720..984
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /inference="alignment:Splign:2.1.0"
     exon            985..1220
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1381
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1382..1514
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1515..1709
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1710..1828
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1829..2790
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2766..2771
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="hexamer: ATTAAA"
     polyA_site      2790
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="major polyA site"
ORIGIN      
        1 agaagttttc tgactccttt cggaggagcc tccgggaccc cggggagtaa caggtgtctg
       61 gaggctgaag ggtggagggg ttcctggatt tggggtttgc ttgtgaaact cccctccacc
      121 ctcctctctc gcacccaccc accccctcac ccccttcttt ttccgtcctt ggaaaatggt
      181 gtccaagctc acgtcgctcc agcaagaact cctgagcgcc ctgctgagct ccggggtcac
      241 caaggaggtg ctggttcagg ccttggagga gttgctgcca tccccgaact tcggggtgaa
      301 gctggagacg ctgcccctgt cccctggcag cggggccgag cccgacacca agccggtctt
      361 ccatactctc accaacggcc acgccaaggg ccgcttgtcc ggcgacgagg gctccgagga
      421 cggcgacgac tatgacacac ctcccatcct caaggagctg caggcgctca acaccgagga
      481 ggcggcggag cagcgggcgg aggtggaccg gatgctcagt gaggaccctt ggagggctgc
      541 taaaatgatc aagggttaca tgcagcaaca caacatcccc cagagggagg tggtcgatgt
      601 caccggcctg aaccagtcgc acctctccca gcatctcaac aagggcaccc ctatgaagac
      661 ccagaagcgt gccgctctgt acacctggta cgtcagaaag caacgagaga tcctccgaca
      721 attcaaccag acagtccaga gttctggaaa tatgacagac aaaagcagtc aggatcagct
      781 gctgtttctc tttccagagt tcagtcaaca gagccatggg cctgggcagt ccgatgatgc
      841 ctgctctgag cccaccaaca agaagatgcg ccgcaaccgg ttcaaatggg ggcccgcgtc
      901 ccagcaaatc ttgtaccagg cctacgatcg gcaaaagaac cccagcaagg aagagagaga
      961 ggccttagtg gaggaatgca acagggcaga atgtttgcag cgaggggtgt ccccctccaa
     1021 agcccacggc ctgggctcca acttggtcac tgaggtccgt gtctacaact ggtttgcaaa
     1081 ccgcaggaag gaggaggcat tccggcaaaa gctggccatg gacgcctata gctccaacca
     1141 gactcacagc ctgaaccctc tgctctccca cggctccccc caccaccagc ccagctcctc
     1201 tcctccaaac aagctgtcag gagtgcgcta cagccagcag ggaaacaatg agatcacttc
     1261 ctcctcaaca atcagtcacc atggcaacag cgccatggtg accagccagt cggttttaca
     1321 gcaagtctcc ccagccagcc tggacccagg ccacaatctc ctctcacctg atggtaaaat
     1381 gatctcagtc tcaggaggag gtttgccccc agtcagcacc ttgacgaata tccacagcct
     1441 ctcccaccat aatccccagc aatctcaaaa cctcatcatg acacccctct ctggagtcat
     1501 ggcaattgca caaagcctca acacctccca agcacagagt gtccctgtca tcaacagtgt
     1561 ggccggcagc ctggcagccc tgcagcccgt ccagttctcc cagcagctgc acagccctca
     1621 ccagcagccc ctcatgcagc agagcccagg cagccacatg gcccagcagc ccttcatggc
     1681 agctgtgact cagctgcaga actcacacat gtacgcacac aagcaggaac ccccccagta
     1741 ttcccacacc tcccggtttc catctgcaat ggtggtcaca gataccagca gcatcagtac
     1801 actcaccaac atgtcttcaa gtaaacagtg tcctctacaa gcctggtgat gcccacacac
     1861 cacttacttc gtgcgcaaca acaaggaccc tgttttccac accatcaccc tctgggcagc
     1921 tgtcatggaa aagcccagtg acctgaccag cacctgcgag aggtccctgc ttacctgacg
     1981 gacgtcctgc tggcacctca gacaatccac tctcaggagg cgcagcccga agcccagttt
     2041 cccttctatg cagtattgcc acaatgcctc tcccacgatg tcaaggactc ctgtctgtcc
     2101 tggaggtggg agacaaggaa cctccgaaga ggaagcaaga aagccgtact gtctatgttg
     2161 tgatccttca tcgaacaaac tgatgcgaaa acttgaatct gttactgaaa tgaggagaga
     2221 aggacatgtg ctattgaact gagccaaaca cactgtaaat atccacagac tccctcccct
     2281 gcccccatcc caaatgatct tgagatttct tttaaagaag taaatttgtc caatggctgt
     2341 aaactataaa ctactgtaat taagtgcaat ttcccctctg tgtcctctcc cctctgccct
     2401 gtatataata ctaaagtgtc tattagtttt ctttgtaaag gtcagagtca aaatttcaaa
     2461 agtgatctgt cccctctccc ctcatggaga aacatcctaa gtgggaagtg aagccccttg
     2521 tcctctcccg cgggcctgga cacttatggg gacagcatac cttggactga ctaccagcta
     2581 actccagtct cctgacatta agacacacct ctggatccct ggaggggctg aatgtagtgt
     2641 gtcagagtaa catgccagct tcctgtgggc caggagctca gccgtgcact ccctaagaaa
     2701 ccccagggca gggaaactgg ctgtttgata gcagaagaaa aagttgcagt ctcagaaagc
     2761 cttccattaa aacaatttat tttatcacta
//
