LOCUS       NM_175914               4645 bp    mRNA    linear   PRI 13-MAR-2025
DEFINITION  Homo sapiens hepatocyte nuclear factor 4 alpha (HNF4A), transcript
            variant 5, mRNA.
ACCESSION   NM_175914
VERSION     NM_175914.5
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 4645)
  AUTHORS   Hu,J., Li,X., Xu,K., Chen,J., Zong,S., Zhang,H., Li,H., Zhang,G.,
            Guo,Z., Zhao,X., Jiang,Y. and Jing,Z.
  TITLE     CircVPS8 promotes the malignant phenotype and inhibits ferroptosis
            of glioma stem cells by acting as a scaffold for MKRN1, SOX15 and
            HNF4A
  JOURNAL   Oncogene 43 (36), 2679-2695 (2024)
   PUBMED   39098847
  REMARK    GeneRIF: CircVPS8 promotes the malignant phenotype and inhibits
            ferroptosis of glioma stem cells by acting as a scaffold for MKRN1,
            SOX15 and HNF4A.
REFERENCE   2  (bases 1 to 4645)
  AUTHORS   Kotulkar,M., Paine-Cabrera,D. and Apte,U.
  TITLE     Role of Hepatocyte Nuclear Factor 4 Alpha in Liver Cancer
  JOURNAL   Semin Liver Dis 44 (3), 383-393 (2024)
   PUBMED   38901435
  REMARK    GeneRIF: Role of Hepatocyte Nuclear Factor 4 Alpha in Liver Cancer.
            Review article
REFERENCE   3  (bases 1 to 4645)
  AUTHORS   Jing,T., Wei,D., Xu,X., Wu,C., Yuan,L., Huang,Y., Liu,Y., Jiang,Y.
            and Wang,B.
  TITLE     Transposable elements-mediated recruitment of KDM1A epigenetically
            silences HNF4A expression to promote hepatocellular carcinoma
  JOURNAL   Nat Commun 15 (1), 5631 (2024)
   PUBMED   38965210
  REMARK    GeneRIF: Transposable elements-mediated recruitment of KDM1A
            epigenetically silences HNF4A expression to promote hepatocellular
            carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4645)
  AUTHORS   Huang,J., Levitsky,L.L. and Rhoads,D.B.
  TITLE     Novel P2 promoter-derived HNF4alpha isoforms with different
            N-terminus generated by alternate exon insertion
  JOURNAL   Exp Cell Res 315 (7), 1200-1211 (2009)
   PUBMED   19353766
  REMARK    GeneRIF: Results describe HNF4alpha variants designated
            HNF4alpha10-12 expressed from distal promoter P2, and provide
            evidence for a more complex expression pattern of HNF4alpha than
            previously appreciated.
REFERENCE   5  (bases 1 to 4645)
  AUTHORS   Drewes,T., Senkel,S., Holewa,B. and Ryffel,G.U.
  TITLE     Human hepatocyte nuclear factor 4 isoforms are encoded by distinct
            and differentially expressed genes
  JOURNAL   Mol Cell Biol 16 (3), 925-931 (1996)
   PUBMED   8622695
REFERENCE   6  (bases 1 to 4645)
  AUTHORS   Ktistaki,E., Ktistakis,N.T., Papadogeorgaki,E. and Talianidis,I.
  TITLE     Recruitment of hepatocyte nuclear factor 4 into specific
            intranuclear compartments depends on tyrosine phosphorylation that
            affects its DNA-binding and transactivation potential
  JOURNAL   Proc Natl Acad Sci U S A 92 (21), 9876-9880 (1995)
   PUBMED   7568236
REFERENCE   7  (bases 1 to 4645)
  AUTHORS   Jiang,G., Nepomuceno,L., Hopkins,K. and Sladek,F.M.
  TITLE     Exclusive homodimerization of the orphan receptor hepatocyte
            nuclear factor 4 defines a new subclass of nuclear receptors
  JOURNAL   Mol Cell Biol 15 (9), 5131-5143 (1995)
   PUBMED   7651430
REFERENCE   8  (bases 1 to 4645)
  AUTHORS   Ginsburg,G.S., Ozer,J. and Karathanasis,S.K.
  TITLE     Intestinal apolipoprotein AI gene transcription is regulated by
            multiple distinct DNA elements and is synergistically activated by
            the orphan nuclear receptor, hepatocyte nuclear factor 4
  JOURNAL   J Clin Invest 96 (1), 528-538 (1995)
   PUBMED   7615825
REFERENCE   9  (bases 1 to 4645)
  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   10 (bases 1 to 4645)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL117382.28 and AL132772.14.
            
            On May 11, 2021 this sequence version replaced NM_175914.4.
            
            Summary: The protein encoded by this gene is a nuclear
            transcription factor which binds DNA as a homodimer. The encoded
            protein controls the expression of several genes, including
            hepatocyte nuclear factor 1 alpha, a transcription factor which
            regulates the expression of several hepatic genes. This gene may
            play a role in development of the liver, kidney, and intestines.
            Mutations in this gene have been associated with monogenic
            autosomal dominant non-insulin-dependent diabetes mellitus type I.
            Alternative splicing of this gene results in multiple transcript
            variants encoding several different isoforms. [provided by RefSeq,
            Apr 2012].
            
            Transcript Variant: This variant (5) contains an alternate 5'
            terminal exon, which results in translation initiation from an
            alternate upstream start codon compared to variant 2. The resulting
            shorter isoform (5, also known as HNF4alpha8) has a distinct
            N-terminus compared to isoform 2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR14038197.1127849.1,
                                           SRR14038195.2397880.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316673.9/ ENSP00000315180.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-155               AL117382.28        88043-88197
            156-330             AL132772.14        6661-6835
            331-425             AL132772.14        7984-8078
            426-532             AL132772.14        14297-14403
            533-688             AL132772.14        15110-15265
            689-776             AL132772.14        19028-19115
            777-932             AL132772.14        20324-20479
            933-1169            AL132772.14        24621-24857
            1170-1322           AL132772.14        28938-29090
            1323-4645           AL132772.14        30126-33448
FEATURES             Location/Qualifiers
     source          1..4645
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..4645
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /note="hepatocyte nuclear factor 4 alpha"
                     /db_xref="GeneID:3172"
                     /db_xref="HGNC:HGNC:5024"
                     /db_xref="MIM:600281"
     exon            1..155
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..1465
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /note="isoform 5 is encoded by transcript variant 5;
                     hepatic nuclear factor 4 alpha; HNF4alpha10/11/12;
                     transcription factor 14; transcription factor HNF-4;
                     nuclear receptor subfamily 2 group A member 1; HNF4A wild
                     type"
                     /codon_start=1
                     /product="hepatocyte nuclear factor 4-alpha isoform 5"
                     /protein_id="NP_787110.2"
                     /db_xref="CCDS:CCDS42876.1"
                     /db_xref="GeneID:3172"
                     /db_xref="HGNC:HGNC:5024"
                     /db_xref="MIM:600281"
                     /translation="MVSVNAPLGAPVESSYDTSPSEGTNLNAPNSLGVSALCAICGDR
                     ATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAG
                     MKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIA
                     SIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
                     DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPD
                     AKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQ
                     FIKLFGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSN
                     GQMCEWPRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQE
                     VI"
     exon            156..330
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /inference="alignment:Splign:2.1.0"
     exon            331..425
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /inference="alignment:Splign:2.1.0"
     exon            426..532
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /inference="alignment:Splign:2.1.0"
     exon            533..688
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /inference="alignment:Splign:2.1.0"
     exon            689..776
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /inference="alignment:Splign:2.1.0"
     exon            777..932
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1169
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1322
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..4645
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4621..4626
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /note="hexamer: AATAAA"
     polyA_site      4645
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /note="major polyA site"
ORIGIN      
        1 gcactcaccg ccttcctggt ggacgggctc ctggtggctg tgctgctgct gtgagcgggc
       61 ccctgctcct ccatgccccc agctctccgg ctgggtgggc ttggccatgg tcagcgtgaa
      121 cgcgcccctc ggggctccag tggagagttc ttacgacacg tccccatcag aaggcaccaa
      181 cctcaacgcg cccaacagcc tgggtgtcag cgccctgtgt gccatctgcg gggaccgggc
      241 cacgggcaaa cactacggtg cctcgagctg tgacggctgc aagggcttct tccggaggag
      301 cgtgcggaag aaccacatgt actcctgcag atttagccgg cagtgcgtgg tggacaaaga
      361 caagaggaac cagtgccgct actgcaggct caagaaatgc ttccgggctg gcatgaagaa
      421 ggaagccgtc cagaatgagc gggaccggat cagcactcga aggtcaagct atgaggacag
      481 cagcctgccc tccatcaatg cgctcctgca ggcggaggtc ctgtcccgac agatcacctc
      541 ccccgtctcc gggatcaacg gcgacattcg ggcgaagaag attgccagca tcgcagatgt
      601 gtgtgagtcc atgaaggagc agctgctggt tctcgttgag tgggccaagt acatcccagc
      661 tttctgcgag ctccccctgg acgaccaggt ggccctgctc agagcccatg ctggcgagca
      721 cctgctgctc ggagccacca agagatccat ggtgttcaag gacgtgctgc tcctaggcaa
      781 tgactacatt gtccctcggc actgcccgga gctggcggag atgagccggg tgtccatacg
      841 catccttgac gagctggtgc tgcccttcca ggagctgcag atcgatgaca atgagtatgc
      901 ctacctcaaa gccatcatct tctttgaccc agatgccaag gggctgagcg atccagggaa
      961 gatcaagcgg ctgcgttccc aggtgcaggt gagcttggag gactacatca acgaccgcca
     1021 gtatgactcg cgtggccgct ttggagagct gctgctgctg ctgcccacct tgcagagcat
     1081 cacctggcag atgatcgagc agatccagtt catcaagctc ttcggcatgg ccaagattga
     1141 caacctgttg caggagatgc tgctgggagg gtcccccagc gatgcacccc atgcccacca
     1201 ccccctgcac cctcacctga tgcaggaaca tatgggaacc aacgtcatcg ttgccaacac
     1261 aatgcccact cacctcagca acggacagat gtgtgagtgg ccccgaccca ggggacaggc
     1321 agccacccct gagaccccac agccctcacc gccaggtggc tcagggtctg agccctataa
     1381 gctcctgccg ggagccgtcg ccacaatcgt caagcccctc tctgccatcc cccagccgac
     1441 catcaccaag caggaagtta tctagcaagc cgctggggct tgggggctcc actggctccc
     1501 cccagccccc taagagagca cctggtgatc acgtggtcac ggcaaaggaa gacgtgatgc
     1561 caggaccagt cccagagcag gaatgggaag gatgaagggc ccgagaacat ggcctaaggg
     1621 ccacatccca ctgccaccct tgacgccctg ctctggataa caagactttg acttggggag
     1681 acctctactg ccttggacaa cttttctcat gttgaagcca ctgccttcac cttcaccttc
     1741 atccatgtcc aacccccgac ttcatcccaa aggacagccg cctggagatg acttgaggcc
     1801 ttacttaaac ccagctccct tcttccctag cctggtgctt ctcctctcct agcccctgtc
     1861 atggtgtcca gacagagccc tgtgaggctg ggtccaattg tggcacttgg ggcaccttgc
     1921 tcctccttct gctgctgccc ccacctctgc tgcctccctc tgctgtcacc ttgctcagcc
     1981 atcccgtctt ctccaacacc acctctccag aggccaagga ggccttggaa acgattcccc
     2041 cagtcattct gggaacatgt tgtaagcact gactgggacc aggcaccagg cagggtctag
     2101 aaggctgtgg tgagggaaga cgcctttctc ctccaaccca acctcatcct ccttcttcag
     2161 ggacttgggt gggtacttgg gtgaggatcc ctgaaggcct tcaacccgag aaaacaaacc
     2221 caggttggcg actgcaacag gaacttggag tggagaggaa aagcatcaga aagaggcaga
     2281 ccatccacca ggcctttgag aaagggtaga attctggctg gtagagcagg tgagatggga
     2341 cattccaaag aacagcctga gccaaggcct agtggtagta agaatctagc aagaattgag
     2401 gaagaatggt gtgggagagg gatgatgaag agagagaggg cctgctggag agcatagggt
     2461 ctggaacacc aggctgaggt cctgatcagc ttcaaggagt atgcagggag ctgggcttcc
     2521 agaaaatgaa cacagcagtt ctgcagagga cgggaggctg gaagctggga ggtcaggtgg
     2581 ggtggatgat ataatgcggg tgagagtaat gaggcttggg gctggagagg acaagatggg
     2641 taaaccctca catcagagtg acatccagga ggaataagct cccagggcct gtctcaagct
     2701 cttccttact cccaggcact gtcttaaggc atctgacatg catcatctca tttaatcctc
     2761 ccttcctccc tattaaccta gagattgttt ttgtttttta ttctcctcct ccctccccgc
     2821 cctcacccgc cccactccct cctaacctag agattgttac agaagctgaa attgcgttct
     2881 aagaggtgaa gtgatttttt ttctgaaact cacacaacta ggaagtggct gagtcaggac
     2941 ttgaacccag gtctccctgg atcagaacag gagctcttaa ctacagtggc tgaatagctt
     3001 ctccaaaggc tccctgtgtt ctcaccgtga tcaagttgag gggcttccgg ctcccttcta
     3061 cagcctcaga aaccagactc gttcttctgg gaaccctgcc cactcccagg accaagattg
     3121 gcctgaggct gcactaaaat tcacttaggg tcgagcatcc tgtttgctga taaatattaa
     3181 ggagaattca tgactcttga cagcttttct ctcttcactc cccaagtcaa ggggaggggt
     3241 ggcaggggtc tgtttcctgg aagtcaggct catctggcct gttggcatgg gggtgggaca
     3301 gtgtgcacag tgtgggggca ggggagggct aagcaggcct gggtttgagg gctgctccgg
     3361 agaccgtcac tccaggtgca ttctggaagc attagacccc aggatggagc gaccagcatg
     3421 tcatccatgt ggaatcttgg tggctttgag gacattctgg aaaatgccac tgaccagtgt
     3481 gaacaaaagg gatgtgttat ggggctggag gtgtgattag gtaggaggga aactgttgga
     3541 ccgactcctg ccccctgctc aacactgacc cctctgagtg gttggaggca gtgccccagt
     3601 gcccagaaat cccaccatta gtgattgttt tttatgagaa agaggcgtgg agaagtattg
     3661 gggcaatgtg tcagggagga atcaccacat ccctacggca gtcccagcca agcccccaat
     3721 cccagcggag actgtgccct gctcagagct cccaagcctt cccccaccac ctcactcaag
     3781 tgcccctgaa atccctgcca gacggctcag cctggtctgc ggtaaggcag ggaggctgga
     3841 accatttctg ggcattgtgg tcattcccac tgtgttcctc cacctcctcc ctccagcgtt
     3901 gctcagacct ctgtcttggg agaaaggttg agataagaat gtcccatgga gtgccgtggg
     3961 caacagtggc ccttcatggg aacaatctgt tggagcaggg ggtcagttct ctgctgggaa
     4021 tctacccctt tctggaggag aaacccattc caccttaata actttattgt aatgtgagaa
     4081 acacaaaaca aagtttactt ttttgactct aagctgacat gatattagaa aatctctcgc
     4141 tctctttttt tttttttttt ttttttttgg ctacttgagt tgtggtccta aaacataaaa
     4201 tctgatggac aaacagaggg ttgctggggg gacaagcgtg ggcacaattt ccccaccaag
     4261 acaccctgat cttcaggcgg gtctcaggag cttctaaaaa tccgcatggc tctcctgaga
     4321 gtggacagag gagaggagag ggtcagaaat gaacgctctt ctatttcttg tcattaccaa
     4381 gccaattact tttgccaaat ttttctgtga tctgccctga ttaagatgaa ttgtgaaatt
     4441 tacatcaagc aattatcaaa gcgggctggg tcccatcaga acgacccaca tctttctgtg
     4501 ggtgtgaatg tcattaggtc ttgcgctgac ccctgagccc ccatcactgc cgcctgatgg
     4561 ggcaaagaaa caaaaaacat ttcttactct tctgtgtttt aacaaaagtt tataaaacaa
     4621 aataaatggc gcatatgttt tctaa
//
