LOCUS       NM_001515               1734 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens general transcription factor IIH subunit 2 (GTF2H2),
            transcript variant 1, mRNA.
ACCESSION   NM_001515
VERSION     NM_001515.4
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 1734)
  AUTHORS   Li,Z., Li,Y., Ouyang,Q., Li,X. and Huang,J.
  TITLE     Exosome-derived GTF2H2 from Huh7 cells can inhibit endothelial cell
            viability, migration, tube formation, and permeability
  JOURNAL   Tissue Cell 79, 101922 (2022)
   PUBMED   36116407
  REMARK    GeneRIF: Exosome-derived GTF2H2 from Huh7 cells can inhibit
            endothelial cell viability, migration, tube formation, and
            permeability.
REFERENCE   2  (bases 1 to 1734)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1734)
  AUTHORS   Barnett,J.T., Kuper,J., Koelmel,W., Kisker,C. and Kad,N.M.
  TITLE     The TFIIH subunits p44/p62 act as a damage sensor during nucleotide
            excision repair
  JOURNAL   Nucleic Acids Res 48 (22), 12689-12696 (2020)
   PUBMED   33166411
  REMARK    GeneRIF: The TFIIH subunits p44/p62 act as a damage sensor during
            nucleotide excision repair.
REFERENCE   4  (bases 1 to 1734)
  AUTHORS   Radu,L., Schoenwetter,E., Braun,C., Marcoux,J., Koelmel,W.,
            Schmitt,D.R., Kuper,J., Cianferani,S., Egly,J.M., Poterszman,A. and
            Kisker,C.
  TITLE     The intricate network between the p34 and p44 subunits is central
            to the activity of the transcription/DNA repair factor TFIIH
  JOURNAL   Nucleic Acids Res 45 (18), 10872-10883 (2017)
   PUBMED   28977422
  REMARK    GeneRIF: interface variants between the p34 and p44 subunits only
            mildly affected the association between the full length proteins
            and did not impinge on TFIIH activities due to the presence of an
            additional interface involving the C4 domain of p34.
REFERENCE   5  (bases 1 to 1734)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 1734)
  AUTHORS   Henning,K.A., Li,L., Iyer,N., McDaniel,L.D., Reagan,M.S.,
            Legerski,R., Schultz,R.A., Stefanini,M., Lehmann,A.R., Mayne,L.V.
            and Friedberg,E.C.
  TITLE     The Cockayne syndrome group A gene encodes a WD repeat protein that
            interacts with CSB protein and a subunit of RNA polymerase II TFIIH
  JOURNAL   Cell 82 (4), 555-564 (1995)
   PUBMED   7664335
REFERENCE   7  (bases 1 to 1734)
  AUTHORS   van der Steege,G., Draaijers,T.G., Grootscholten,P.M., Osinga,J.,
            Anzevino,R., Velona,I., Den Dunnen,J.T., Scheffer,H., Brahe,C., van
            Ommen,G.J. et al.
  TITLE     A provisional transcript map of the spinal muscular atrophy (SMA)
            critical region
  JOURNAL   Eur J Hum Genet 3 (2), 87-95 (1995)
   PUBMED   7552146
REFERENCE   8  (bases 1 to 1734)
  AUTHORS   Humbert,S., van Vuuren,H., Lutz,Y., Hoeijmakers,J.H., Egly,J.M. and
            Moncollin,V.
  TITLE     p44 and p34 subunits of the BTF2/TFIIH transcription factor have
            homologies with SSL1, a yeast protein involved in DNA repair
  JOURNAL   EMBO J 13 (10), 2393-2398 (1994)
   PUBMED   8194529
REFERENCE   9  (bases 1 to 1734)
  AUTHORS   Jacob,G.A., Luse,S.W. and Luse,D.S.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   10 (bases 1 to 1734)
  AUTHORS   Conaway,R.C. and Conaway,J.W.
  TITLE     ATP activates transcription initiation from promoters by RNA
            polymerase II in a reversible step prior to RNA synthesis
  JOURNAL   J Biol Chem 263 (6), 2962-2968 (1988)
   PUBMED   2449431
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC044797.5.
            
            On Jun 26, 2021 this sequence version replaced NM_001515.3.
            
            Summary: This gene is part of a 500 kb inverted duplication on
            chromosome 5q13. This duplicated region contains at least four
            genes and repetitive elements which make it prone to rearrangements
            and deletions. The repetitiveness and complexity of the sequence
            have also caused difficulty in determining the organization of this
            genomic region. This gene is within the telomeric copy of the
            duplication. Deletion of this gene sometimes accompanies deletion
            of the neighboring SMN1 gene in spinal muscular atrophy (SMA)
            patients but it is unclear if deletion of this gene contributes to
            the SMA phenotype. This gene encodes the 44 kDa subunit of RNA
            polymerase II transcription initiation factor IIH which is involved
            in basal transcription and nucleotide excision repair. Transcript
            variants for this gene have been described, but their full length
            nature has not been determined. A second copy of this gene within
            the centromeric copy of the duplication has been described in the
            literature. It is reported to be different by either two or four
            base pairs; however, no sequence data is currently available for
            the centromeric copy of the gene. [provided by RefSeq, Jul 2008].
            
            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 :: SRR18074968.780213.1,
                                           SRR14038196.3041250.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274400.10/ ENSP00000274400.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-183               AC044797.5         164480-164662       c
            184-272             AC044797.5         159694-159782       c
            273-350             AC044797.5         158674-158751       c
            351-387             AC044797.5         158258-158294       c
            388-474             AC044797.5         157830-157916       c
            475-525             AC044797.5         157106-157156       c
            526-580             AC044797.5         156676-156730       c
            581-686             AC044797.5         152338-152443       c
            687-777             AC044797.5         146054-146144       c
            778-865             AC044797.5         145748-145835       c
            866-973             AC044797.5         144992-145099       c
            974-1037            AC044797.5         142430-142493       c
            1038-1141           AC044797.5         139167-139270       c
            1142-1244           AC044797.5         138508-138610       c
            1245-1284           AC044797.5         134493-134532       c
            1285-1734           AC044797.5         132333-132782       c
FEATURES             Location/Qualifiers
     source          1..1734
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..1734
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="general transcription factor IIH subunit 2"
                     /db_xref="GeneID:2966"
                     /db_xref="HGNC:HGNC:4656"
                     /db_xref="MIM:601748"
     exon            1..183
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            184..272
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     CDS             217..1404
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="isoform a is encoded by transcript variant 1;
                     general transcription factor IIH, polypeptide 2, 44kD
                     subunit; basic transcription factor 2 44 kDa subunit;
                     general transcription factor IIH polypeptide 2; TFIIH
                     basal transcription factor complex p44 subunit; general
                     transcription factor IIH, polypeptide 2, 44kDa"
                     /codon_start=1
                     /product="general transcription factor IIH subunit 2
                     isoform a"
                     /protein_id="NP_001506.1"
                     /db_xref="CCDS:CCDS34183.1"
                     /db_xref="GeneID:2966"
                     /db_xref="HGNC:HGNC:4656"
                     /db_xref="MIM:601748"
                     /translation="MDEEPERTKRWEGGYERTWEILKEDESGSLKATIEDILFKAKRK
                     RVFEHHGQVRLGMMRHLYVVVDGSRTMEDQDLKPNRLTCTLKLLEYFVEEYFDQNPIS
                     QIGIIVTKSKRAEKLTELSGNPRKHITSLKKAVDMTCHGEPSLYNSLSIAMQTLKHMP
                     GHTSREVLIIFSSLTTCDPSNIYDLIKTLKAAKIRVSVIGLSAEVRVCTVLARETGGT
                     YHVILDESHYKELLTHHVSPPPASSSSECSLIRMGFPQHTIASLSDQDAKPSFSMAHL
                     DGNTEPGLTLGGYFCPQCRAKYCELPVECKICGLTLVSAPHLARSYHHLFPLDAFQEI
                     PLEEYNGERFCYGCQGELKDQHVYVCAVCQNVFCVDCDVFVHDSLHCCPGCIHKIPAP
                     SGV"
     exon            273..350
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            351..387
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            388..474
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            475..525
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            526..580
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            581..686
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            687..777
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            778..865
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            866..973
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1037
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1141
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1244
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1284
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1734
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1456..1461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: AATAAA"
     polyA_site      1499
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="major polyA site"
     regulatory      1547..1552
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      1586
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
     regulatory      1680..1685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     regulatory      1713..1718
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      1718
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
     polyA_site      1734
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
ORIGIN      
        1 gagagtcctt ctagcggcgc cggtgagtcc gcgtgtggaa gtctgtgagg cgcagaggtg
       61 gggcaggccg tctggctagc taggcggctg ggagcgtttt cgtggcgggg aacggaggtt
      121 gaattgccct gcctgggctc atagggaagg aggatgtgaa ggagcttgtg aaggcagagg
      181 aagattattg aataataaaa tacagttttg aaaaaaatgg atgaagaacc tgaaagaact
      241 aagcgatggg aaggaggcta tgaaagaaca tgggagattc ttaaagaaga tgaatctgga
      301 tcacttaaag ctacaataga agacattcta ttcaaggcaa agagaaaaag agtatttgag
      361 caccatggac aagttcgact tggaatgatg cgccaccttt atgtggtagt agatggatca
      421 agaacaatgg aagaccaaga tttaaagcct aatagactga cgtgtacttt aaagttgttg
      481 gaatactttg tagaggaata ttttgatcaa aatcctatta gtcagattgg aataattgta
      541 actaagagta aaagagctga aaaattgact gaactttcag gaaacccaag aaaacatata
      601 acgtctttga agaaagctgt ggatatgacc tgccatggag agccatctct ttataattcc
      661 ctaagcatag ctatgcagac tctaaaacac atgcctggac atacaagtcg agaagtacta
      721 atcatcttta gcagccttac aacttgcgat ccatctaata tttatgatct aatcaagacc
      781 ctaaaggcag ctaaaattag agtatctgtt attggattgt ctgcagaagt tcgcgtttgc
      841 actgtacttg ctcgtgaaac tggtggcacg taccatgtta ttttagatga aagccattac
      901 aaagagttgc tcacacatca tgttagtcct cctcctgcta gctcaagttc tgaatgctca
      961 cttattcgta tgggatttcc tcagcacacc attgcttctt tatctgacca ggatgcaaaa
     1021 ccctctttca gcatggcgca tttggatggc aatactgagc cagggcttac attaggaggc
     1081 tatttctgcc cacagtgtcg ggcaaagtac tgtgagctac ctgttgagtg taaaatctgt
     1141 ggtcttactt tggtgtctgc tccccacttg gcacggtctt accatcattt gtttcctttg
     1201 gatgcttttc aagaaattcc cctagaagaa tataatggag aaagattttg ttatggatgt
     1261 cagggggaat tgaaagacca acatgtttat gtttgtgctg tgtgccaaaa tgttttctgt
     1321 gtggactgtg atgtttttgt tcatgattct ctacactgtt gccctggctg tattcataag
     1381 attccagctc cttcaggtgt ttgattccag catgtagtat acattgtatg tgttaaaaag
     1441 aaatttgcaa ctgtgaataa aaggacttct ttagaagaag cttcatttaa aacatgaaag
     1501 gataatctga cttaagaaac tttttgctaa gaaaaggtaa tattttatta aattttaaat
     1561 ttgtgttgtc acagaaatac ctgaaattca gtagtacttc attcaattaa ttttgttttc
     1621 tattattttg agttatactg ttttcaaagt cattatgcag tatgtataaa cttataagaa
     1681 ttaaattgat gtgataattt tatgttttta taattaaata tagaatcttt atga
//
