LOCUS       NM_008186               2749 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Mus musculus general transcription factor II H, polypeptide 1
            (Gtf2h1), transcript variant 2, mRNA.
ACCESSION   NM_008186
VERSION     NM_008186.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2749)
  AUTHORS   Zhang,L., Song,H., Ding,J., Wang,D.J., Zhu,S.P., Liu,C., Jin,X. and
            Chen,J.W.
  TITLE     The Mechanism of TNF-alpha-Mediated Accumulation of Phosphorylated
            Tau Protein and Its Modulation by Propofol in Primary Mouse
            Hippocampal Neurons: Role of Mitophagy, NLRP3, and p62/Keap1/Nrf2
            Pathway
  JOURNAL   Oxid Med Cell Longev 2022, 8661200 (2022)
   PUBMED   35993019
  REMARK    GeneRIF: The Mechanism of TNF-alpha-Mediated Accumulation of
            Phosphorylated Tau Protein and Its Modulation by Propofol in
            Primary Mouse Hippocampal Neurons: Role of Mitophagy, NLRP3, and
            p62/Keap1/Nrf2 Pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2749)
  AUTHORS   Simon,Y., Kessler,S.M., Bohle,R.M., Haybaeck,J. and Kiemer,A.K.
  TITLE     The insulin-like growth factor 2 (IGF2) mRNA-binding protein
            p62/IGF2BP2-2 as a promoter of NAFLD and HCC?
  JOURNAL   Gut 63 (5), 861-863 (2014)
   PUBMED   24173291
  REMARK    GeneRIF: Mice with a liver overexpression of insulin-like growth
            factor 2 (IGF2) mRNA-binding protein p62/IMP2-2/IGF2BP2-2 show
            elevated Ccl2 levels, which models all stages of non-alcoholic
            fatty liver disease.
REFERENCE   3  (bases 1 to 2749)
  AUTHORS   Wignes,J.A., Goldman,J.W., Weihl,C.C., Bartley,M.G. and Andley,U.P.
  TITLE     p62 expression and autophagy in alphaB-crystallin R120G mutant
            knock-in mouse model of hereditary cataract
  JOURNAL   Exp Eye Res 115, 263-273 (2013)
   PUBMED   23872361
  REMARK    GeneRIF: We propose that autophagy is inhibited in the alphaB-R120G
            mutant lenses because of a defect in protein degradation after
            autophagosome formation.
REFERENCE   4  (bases 1 to 2749)
  AUTHORS   Kamileri,I., Karakasilioti,I., Sideri,A., Kosteas,T., Tatarakis,A.,
            Talianidis,I. and Garinis,G.A.
  TITLE     Defective transcription initiation causes postnatal growth failure
            in a mouse model of nucleotide excision repair (NER) progeria
  JOURNAL   Proc Natl Acad Sci U S A 109 (8), 2995-3000 (2012)
   PUBMED   22323595
REFERENCE   5  (bases 1 to 2749)
  AUTHORS   Zheng,Q., Su,H., Ranek,M.J. and Wang,X.
  TITLE     Autophagy and p62 in cardiac proteinopathy
  JOURNAL   Circ Res 109 (3), 296-308 (2011)
   PUBMED   21659648
  REMARK    GeneRIF: p62 is up-regulated in mouse proteinopathic hearts and
            promotes aggresome formation and autophagy activation and protects
            cardiomyocytes against proteotoxic stress
REFERENCE   6  (bases 1 to 2749)
  AUTHORS   Zhang,Q., Zhao,B., Li,W., Oiso,N., Novak,E.K., Rusiniak,M.E.,
            Gautam,R., Chintala,S., O'Brien,E.P., Zhang,Y., Roe,B.A.,
            Elliott,R.W., Eicher,E.M., Liang,P., Kratz,C., Legius,E.,
            Spritz,R.A., O'Sullivan,T.N., Copeland,N.G., Jenkins,N.A. and
            Swank,R.T.
  TITLE     Ru2 and Ru encode mouse orthologs of the genes mutated in human
            Hermansky-Pudlak syndrome types 5 and 6
  JOURNAL   Nat Genet 33 (2), 145-153 (2003)
   PUBMED   12548288
REFERENCE   7  (bases 1 to 2749)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   8  (bases 1 to 2749)
  AUTHORS   Castro,J., Merino,C. and Zurita,M.
  TITLE     Molecular characterization and developmental expression of the
            TFIIH factor p62 gene from Drosophila melanogaster: effects on the
            UV light sensitivity of a p62 mutant fly
  JOURNAL   DNA Repair (Amst) 1 (5), 359-368 (2002)
   PUBMED   12509240
REFERENCE   9  (bases 1 to 2749)
  AUTHORS   De Graeve,F., Bahr,A., Chatton,B. and Kedinger,C.
  TITLE     A murine ATFa-associated factor with transcriptional repressing
            activity
  JOURNAL   Oncogene 19 (14), 1807-1819 (2000)
   PUBMED   10777215
REFERENCE   10 (bases 1 to 2749)
  AUTHORS   Perez,C., Auriol,J., Seroz,T. and Egly,J.M.
  TITLE     Genomic organization and promoter characterization of the mouse and
            human genes encoding p62 subunit of the transcription/DNA repair
            factor TFIIH
  JOURNAL   Gene 213 (1-2), 73-82 (1998)
   PUBMED   9630526
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BB610125.1, AK005065.1, BC052837.1 and BX632789.1.
            
            On May 14, 2008 this sequence version replaced NM_008186.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 3. The resulting isoform (2) is
            shorter at the N-terminus compared to isoform 3.
            
            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 :: AK005065.1, SRR1660811.131649.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BB610125.1         2-10
            10-618              AK005065.1         2-610
            619-2166            BC052837.1         598-2145
            2167-2202           AK005065.1         2159-2194
            2203-2212           BC052837.1         2182-2191
            2213-2742           AK005065.1         2204-2733
            2743-2749           BX632789.1         1-7                 c
FEATURES             Location/Qualifiers
     source          1..2749
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 30.58 cM"
     gene            1..2749
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /note="general transcription factor II H, polypeptide 1"
                     /db_xref="GeneID:14884"
                     /db_xref="MGI:MGI:1277216"
     exon            1..195
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            196..364
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     CDS             211..1854
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /note="isoform 2 is encoded by transcript variant 2;
                     general transcription factor IIH, polypeptide 1 (62kD
                     subunit); general transcription factor IIH subunit 1;
                     BTF2-p62; basic transcription factor 2 62 kDa subunit;
                     TFIIH basal transcription factor complex p62 subunit"
                     /codon_start=1
                     /product="general transcription factor IIH subunit 1
                     isoform 2"
                     /protein_id="NP_032212.3"
                     /db_xref="CCDS:CCDS21287.1"
                     /db_xref="GeneID:14884"
                     /db_xref="MGI:MGI:1277216"
                     /translation="MATSSEEVLLIVKKVRQKKQDGALYLMAERIAWAPEGKDRFTIS
                     HMYADIKCQKISPEGKAKIQLQLVLHAGDTTNFHFSNESTAVKERDAVKDLLQQLLPK
                     FKRKANKELEEKNRMLQEDPVLFQLYKDLVVSQVISAEEFWANRLNVNATDSSTSSHK
                     QDVGISAAFLADVRPQTDGCNGLRYNLTSDIIESIFRTYPAVKMKYAETVPHNMTEKE
                     FWTRFFQSHYFHRDRLNTGSKDLFAECAKIDEKGLKTMVSLGVKNPMLDLTSLEDKPL
                     DEGYGISSVPSTSNSKSIKENSNAAIIKRFNHHSAMVLAAGLRKQQAQNGQNGEPSSV
                     DGNSGDTDCFQPAVKRAKLQESIEYEDLGNNNSVKTIALNLKKSDRYYHGPTPIQSLQ
                     YATSQDIINSFQSIRQEMEAYTPKLTQVLSSSAASSTITALSPGGALMQGGTQQAVNQ
                     MVPNDIQSELKHLYVAVGELLRHFWSCFPVNTPFLEEKVVKMKSNLERFQVTKLCPFQ
                     EKIRRQYLSTNLVSHIEEMLQTAYNKLHAWQSRRLMKKT"
     exon            365..557
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            558..720
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            721..814
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            815..964
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1044
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1172
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1260
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1349
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1467
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            1468..1558
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            1559..1674
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            1675..1767
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     exon            1768..2745
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2726..2731
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /note="hexamer: AATAAA"
     polyA_site      2745
                     /gene="Gtf2h1"
                     /gene_synonym="62kDa; BTF2 p62; p62"
                     /note="major polyA site"
ORIGIN      
        1 gtttccggtc acgtgccctc agcgccctcg cagccagcga tggaggcgag accccccggc
       61 aacagaggcg gtggcgacgg ctgcggccgc aggggttcag cctcctccgt gcagcggctg
      121 tgagaagcgc ggcggaggca gatccgacgg gacgcgcttc ccgcgcccca gaccagagac
      181 cgtagctccc acctgcacct tatagccatc atggcgactt catcagaaga agtgttgctg
      241 attgtgaaga aggttcgtca gaagaagcag gatggagcac tgtacctcat ggcagagaga
      301 attgcttggg cacctgaagg caaagacaga tttacaatca gccatatgta tgcagatatt
      361 aaatgccaga aaatcagtcc agagggaaaa gctaaaatac aacttcagct ggtcctgcat
      421 gcaggggaca caacaaactt ccatttttcc aacgaaagca cggcagtgaa agaacgggat
      481 gcagtgaagg acctccttca gcagctgctg cccaagttca agcggaaagc taataaagag
      541 ctggaggaga agaacagaat gctccaagaa gatcctgttt tattccaact ctataaagac
      601 cttgttgtga gccaagtgat cagtgctgag gaattctggg ccaatcgttt aaatgtgaat
      661 gcaacagata gttctacatc cagtcacaag caggatgttg gtatttctgc agcatttctg
      721 gctgatgtcc ggccccaaac ggatggctgt aatggtctga gatataattt aacttctgat
      781 atcattgaat ctatatttag gacctatcca gcagtaaaaa tgaaatatgc agaaactgta
      841 ccacacaaca tgacagaaaa ggagttctgg acacgctttt tccagtccca ttattttcac
      901 agggaccgac taaatacagg atcgaaggac ctctttgcag aatgtgccaa aatagatgag
      961 aagggattaa aaacaatggt ttcattagga gtgaaaaacc caatgctaga tttgacatcg
     1021 ttggaagata agccattaga cgagggctat ggcatttcct ctgtgccatc tacttccaat
     1081 tccaaatcca taaaggagaa tagtaatgct gccatcatca aaaggtttaa ccaccacagt
     1141 gccatggtcc tggctgctgg tctcaggaaa caacaagcac aaaatggaca gaatggtgag
     1201 cccagcagcg tggatgggaa ttctggggat acagactgct ttcagccagc agtcaaaagg
     1261 gcaaagttgc aggagtccat tgaatatgaa gacttgggaa acaacaattc tgtgaaaacg
     1321 attgcactga atctcaagaa gtcagacagg tattaccatg gtcctactcc aattcagtca
     1381 ctgcagtatg caacaagtca ggacattatt aactcttttc aaagtattag acaagaaatg
     1441 gaagcttaca cacccaagtt aactcaggtt ctctcaagca gtgctgctag tagcaccatc
     1501 acagccctgt cacctggagg agctcttatg cagggaggga cacagcaagc cgtaaaccag
     1561 atggtgccaa acgatattca gtctgaattg aaacacttgt atgtggctgt tggggaactt
     1621 ctgcggcatt tttggtcttg ctttcctgtt aatacaccat tcctagaaga aaaggtagtg
     1681 aaaatgaaga gtaatttgga acggttccaa gttacaaagc tctgcccatt ccaagaaaag
     1741 attcggaggc agtatttaag cacaaatctg gtaagtcaca tagaagagat gctgcagaca
     1801 gcctacaaca agctccacgc gtggcaatcc cggcgcctga tgaagaagac gtgaagcgtt
     1861 tatggtgctc acaggttttg tgggttgaaa aaaaacttac ctgcagtcac tctggaaacc
     1921 tggctgaaga caagcagatg ctcacaccgg gggaaacatc tgcagcacgc ccgccgactc
     1981 ccagagctga tgctgttgta cttgcacatg aaaactgaaa cagaaggaag ggacgggatt
     2041 cacctaactc tggggaggga aaccaaggca gaaccaaaat gagctaagtt gcaaatatat
     2101 atgtatgtgt acatgtatat gtatttaaag actgtttact gcagttactc aggaactgct
     2161 tttcattcac gttaagctgc tttcaaaatt taagaaaaaa aaataactaa aagaaaaaaa
     2221 tacttaaagg gtgcattgat aaaatctaag tttttcagtt ttgttttctg ggtaaatttt
     2281 tttccctaag tttgtggcac agggtagccc taagaatcct tcctcagacc cacactggga
     2341 tcctcaaatg ttactaaatt ctagttgttc cttacttcag catgttaaag agagtgcttt
     2401 aaataaggca gagggatgct gttgctcagc catcaggaaa cagttgtcag aagactccac
     2461 tagtcctgtg tttcctacgg aaataagtgt ggcactgaag cctgtgttct gagtccccaa
     2521 gtagaaggca catgtgcggg agtcgtggtc agtgcaggac gtcgtcagga gactgatgct
     2581 gcatgggttt cttgggtgca aatgtatatt gctgagaatt tttttaaaga tggcatgtgc
     2641 tttgaaaaaa aattgcattt ttaagaattt aaaaatctta taagtgagaa atataagaat
     2701 tgcttatttt cacctgttta gaagaaataa agaaagtttc tcataaaaa
//
