LOCUS       NM_000545               3442 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens HNF1 homeobox A (HNF1A), transcript variant 2, mRNA.
ACCESSION   NM_000545
VERSION     NM_000545.8
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 3442)
  AUTHORS   Tooley,K., Jerby,L., Escobar,G., Krovi,S.H., Mangani,D.,
            Dandekar,G., Cheng,H., Madi,A., Goldschmidt,E., Lambden,C.,
            Krishnan,R.K., Rozenblatt-Rosen,O., Regev,A. and Anderson,A.C.
  TITLE     Pan-cancer mapping of single CD8+ T cell profiles reveals a
            TCF1:CXCR6 axis regulating CD28 co-stimulation and anti-tumor
            immunity
  JOURNAL   Cell Rep Med 5 (7), 101640 (2024)
   PUBMED   38959885
  REMARK    GeneRIF: Pan-cancer mapping of single CD8[+] T cell profiles
            reveals a TCF1:CXCR6 axis regulating CD28 co-stimulation and
            anti-tumor immunity.
REFERENCE   2  (bases 1 to 3442)
  AUTHORS   Peng,Y., Qian,H., Xu,W.P., Xiao,M.C., Ding,C.H., Liu,F., Hong,H.Y.,
            Liu,S.Q., Zhang,X. and Xie,W.F.
  TITLE     Tripartite motif 8 promotes the progression of hepatocellular
            carcinoma via mediating ubiquitination of HNF1alpha
  JOURNAL   Cell Death Dis 15 (6), 416 (2024)
   PUBMED   38879600
  REMARK    GeneRIF: Tripartite motif 8 promotes the progression of
            hepatocellular carcinoma via mediating ubiquitination of HNF1alpha.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3442)
  AUTHORS   Kind,L., Molnes,J., Tjora,E., Raasakka,A., Myllykoski,M.,
            Colclough,K., Saint-Martin,C., Adelfalk,C., Dusatkova,P.,
            Pruhova,S., Valtonen-Andre,C., Bellanne-Chantelot,C., Arnesen,T.,
            Kursula,P. and Njolstad,P.R.
  TITLE     Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and
            promoter-driven HNF4A-MODY diabetes
  JOURNAL   JCI Insight 9 (11), e175278 (2024)
   PUBMED   38855865
  REMARK    GeneRIF: Molecular mechanism of HNF-1A-mediated HNF4A gene
            regulation and promoter-driven HNF4A-MODY diabetes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3442)
  AUTHORS   Lau,H.H., Ng,N.H.J., Loo,L.S.W., Jasmen,J.B. and Teo,A.K.K.
  TITLE     The molecular functions of hepatocyte nuclear factors - In and
            beyond the liver
  JOURNAL   J Hepatol 68 (5), 1033-1048 (2018)
   PUBMED   29175243
  REMARK    Review article
REFERENCE   5  (bases 1 to 3442)
  AUTHORS   Anik,A., Catli,G., Abaci,A. and Bober,E.
  TITLE     Maturity-onset diabetes of the young (MODY): an update
  JOURNAL   J Pediatr Endocrinol Metab 28 (3-4), 251-263 (2015)
   PUBMED   25581748
  REMARK    Review article
REFERENCE   6  (bases 1 to 3442)
  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   7  (bases 1 to 3442)
  AUTHORS   Gillis,D.
  TITLE     Nonsyndromic Genetic Hyperinsulinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301549
REFERENCE   8  (bases 1 to 3442)
  AUTHORS   Szpirer,C., Riviere,M., Cortese,R., Nakamura,T., Islam,M.Q.,
            Levan,G. and Szpirer,J.
  TITLE     Chromosomal localization in man and rat of the genes encoding the
            liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1
            (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of
            the hepatocyte growth factor/scatter factor gene (HGF)
  JOURNAL   Genomics 13 (2), 293-300 (1992)
   PUBMED   1535333
REFERENCE   9  (bases 1 to 3442)
  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   10 (bases 1 to 3442)
  AUTHORS   Bach,I., Galcheva-Gargova,Z., Mattei,M.G., Simon-Chazottes,D.,
            Guenet,J.L., Cereghini,S. and Yaniv,M.
  TITLE     Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal
            localization of its gene in man and mouse
  JOURNAL   Genomics 8 (1), 155-164 (1990)
   PUBMED   1707031
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079602.15.
            
            On Nov 30, 2019 this sequence version replaced NM_000545.7.
            
            Summary: The protein encoded by this gene is a transcription factor
            required for the expression of several liver-specific genes. The
            encoded protein functions as a homodimer and binds to the inverted
            palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of
            maturity onset diabetes of the young type 3 (MODY3) and also can
            result in the appearance of hepatic adenomas. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Apr 2015].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR14038193.531452.1, M57732.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257555.11/ ENSP00000257555.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-552               AC079602.15        159851-160402       c
            553-752             AC079602.15        149913-150112       c
            753-939             AC079602.15        145239-145425       c
            940-1181            AC079602.15        144540-144781       c
            1182-1333           AC079602.15        142532-142683       c
            1334-1535           AC079602.15        142203-142404       c
            1536-1727           AC079602.15        141280-141471       c
            1728-1849           AC079602.15        139556-139677       c
            1850-1994           AC079602.15        139318-139462       c
            1995-3442           AC079602.15        136433-137880       c
FEATURES             Location/Qualifiers
     source          1..3442
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..3442
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="HNF1 homeobox A"
                     /db_xref="GeneID:6927"
                     /db_xref="HGNC:HGNC:11621"
                     /db_xref="MIM:142410"
     exon            1..552
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             227..2122
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     hepatic nuclear factor 1; albumin proximal factor;
                     hepatocyte nuclear factor 1-alpha; transcription factor 1,
                     hepatic; interferon production regulator factor;
                     liver-specific transcription factor LF-B1"
                     /codon_start=1
                     /product="hepatocyte nuclear factor 1-alpha isoform 2"
                     /protein_id="NP_000536.6"
                     /db_xref="CCDS:CCDS9209.1"
                     /db_xref="GeneID:6927"
                     /db_xref="HGNC:HGNC:11621"
                     /db_xref="MIM:142410"
                     /translation="MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPL
                     DKGESCGGGRGELAELPNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKA
                     VVETLLQEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRA
                     ALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAY
                     ERQKNPSKEERETLVEECNRAECIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEA
                     FRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGVRYGQPATSETAEVP
                     SSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQT
                     SPGLNQQPQNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVIN
                     SMGSSLTTLQPVQFSQPLHPSYQQPLMPPVQSHVTQSPFMATMAQLQSPHALYSHKPE
                     VAQYTHTGLLPQTMLITDTTNLSALASLTPTKQVFTSDTEASSESGLHTPASQATTLH
                     VPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSHLLPSNHSVIETFIST
                     QMASSSQ"
     exon            553..752
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /inference="alignment:Splign:2.1.0"
     exon            753..939
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1181
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1333
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..1535
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..1727
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1728..1849
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1850..1994
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1995..3442
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3414..3419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="hexamer: AGTAAA"
     polyA_site      3442
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="major polyA site"
ORIGIN      
        1 agctccaatg taaacagaac aggcaggggc cctgattcac gggccgctgg ggccagggtt
       61 gggggttggg ggtgcccaca gggcttggct agtggggttt tgggggggca gtgggtgcaa
      121 ggagtttggt ttgtgtctgc cggccggcag gcaaacgcaa cccacgcggt gggggaggcg
      181 gctagcgtgg tggacccggg ccgcgtggcc ctgtggcagc cgagccatgg tttctaaact
      241 gagccagctg cagacggagc tcctggcggc cctgctcgag tcagggctga gcaaagaggc
      301 actgatccag gcactgggtg agccggggcc ctacctcctg gctggagaag gccccctgga
      361 caagggggag tcctgcggcg gcggtcgagg ggagctggct gagctgccca atgggctggg
      421 ggagactcgg ggctccgagg acgagacgga cgacgatggg gaagacttca cgccacccat
      481 cctcaaagag ctggagaacc tcagccctga ggaggcggcc caccagaaag ccgtggtgga
      541 gacccttctg caggaggacc cgtggcgtgt ggcgaagatg gtcaagtcct acctgcagca
      601 gcacaacatc ccacagcggg aggtggtcga taccactggc ctcaaccagt cccacctgtc
      661 ccaacacctc aacaagggca ctcccatgaa gacgcagaag cgggccgccc tgtacacctg
      721 gtacgtccgc aagcagcgag aggtggcgca gcagttcacc catgcagggc agggagggct
      781 gattgaagag cccacaggtg atgagctacc aaccaagaag gggcggagga accgtttcaa
      841 gtggggccca gcatcccagc agatcctgtt ccaggcctat gagaggcaga agaaccctag
      901 caaggaggag cgagagacgc tagtggagga gtgcaatagg gcggaatgca tccagagagg
      961 ggtgtcccca tcacaggcac aggggctggg ctccaacctc gtcacggagg tgcgtgtcta
     1021 caactggttt gccaaccggc gcaaagaaga agccttccgg cacaagctgg ccatggacac
     1081 gtacagcggg ccccccccag ggccaggccc gggacctgcg ctgcccgctc acagctcccc
     1141 tggcctgcct ccacctgccc tctcccccag taaggtccac ggtgtgcgct atggacagcc
     1201 tgcgaccagt gagactgcag aagtaccctc aagcagcggc ggtcccttag tgacagtgtc
     1261 tacacccctc caccaagtgt cccccacggg cctggagccc agccacagcc tgctgagtac
     1321 agaagccaag ctggtctcag cagctggggg ccccctcccc cctgtcagca ccctgacagc
     1381 actgcacagc ttggagcaga catccccagg cctcaaccag cagccccaga acctcatcat
     1441 ggcctcactt cctggggtca tgaccatcgg gcctggtgag cctgcctccc tgggtcctac
     1501 gttcaccaac acaggtgcct ccaccctggt catcggcctg gcctccacgc aggcacagag
     1561 tgtgccggtc atcaacagca tgggcagcag cctgaccacc ctgcagcccg tccagttctc
     1621 ccagccgctg cacccctcct accagcagcc gctcatgcca cctgtgcaga gccatgtgac
     1681 ccagagcccc ttcatggcca ccatggctca gctgcagagc ccccacgccc tctacagcca
     1741 caagcccgag gtggcccagt acacccacac gggcctgctc ccgcagacta tgctcatcac
     1801 cgacaccacc aacctgagcg ccctggccag cctcacgccc accaagcagg tcttcacctc
     1861 agacactgag gcctccagtg agtccgggct tcacacgccg gcatctcagg ccaccaccct
     1921 ccacgtcccc agccaggacc ctgccagcat ccagcacctg cagccggccc accggctcag
     1981 cgccagcccc acagtgtcct ccagcagcct ggtgctgtac cagagctcag actccagcaa
     2041 tggccagagc cacctgctgc catccaacca cagcgtcatc gagaccttca tctccaccca
     2101 gatggcctct tcctcccagt aaccacggca cctgggccct ggggcctgta ctgcctgctt
     2161 ggggggtgat gagggcagca gccagccctg cctggaggac ctgagcctgc cgagcaaccg
     2221 tggcccttcc tggacagctg tgcctcgctc cccactctgc tctgatgcat cagaaaggga
     2281 gggctctgag gcgccccaac ccgtggaggc tgctcggggt gcacaggagg gggtcgtgga
     2341 gagctaggag caaagcctgt tcatggcaga tgtaggaggg actgtcgctg cttcgtggga
     2401 tacagtcttc ttacttggaa ctgaaggggg cggcctatga cttgggcacc cccagcctgg
     2461 gcctatggag agccctggga ccgctacacc actctggcag ccacacttct caggacacag
     2521 gcctgtgtag ctgtgacctg ctgagctctg agaggccctg gatcagcgtg gccttgttct
     2581 gtcaccaatg tacccaccgg gccactcctt cctgccccaa ctccttccag ctagtgaccc
     2641 acatgccatt tgtactgacc ccatcaccta ctcacacagg catttcctgg gtggctactc
     2701 tgtgccagag cctggggctc taacgcctga gcccagggag gccgaagcta acagggaagg
     2761 caggcagggc tctcctggct tcccatcccc agcgattccc tctcccaggc cccatgacct
     2821 ccagctttcc tgtatttgtt cccaagagca tcatgcctct gaggccagcc tggcctcctg
     2881 cctctactgg gaaggctact tcggggctgg gaagtcgtcc ttactcctgt gggagcctcg
     2941 caacccgtgc caagtccagg tcctggtggg gcagctcctc tgtctcgagc gccctgcaga
     3001 ccctgccctt gtttggggca ggagtagctg agctcacaag gcagcaaggc ccgagcagct
     3061 gagcagggcc ggggaactgg ccaagctgag gtgcccagga gaagaaagag gtgaccccag
     3121 ggcacaggag ctacctgtgt ggacaggact aacactcaga agcctggggg cctggctggc
     3181 tgagggcagt tcgcagccac cctgaggagt ctgaggtcct gagcactgcc aggagggaca
     3241 aaggagcctg tgaacccagg acaagcatgg tcccacatcc ctgggcctgc tgctgagaac
     3301 ctggccttca gtgtaccgcg tctaccctgg gattcaggaa aaggcctggg gtgacccggc
     3361 accccctgca gcttgtagcc agccggggcg agtggcacgt ttatttaact tttagtaaag
     3421 tcaaggagaa atgcggtgga aa
//
