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    GTF2H1 general transcription factor IIH subunit 1 [ Homo sapiens (human) ]

    Gene ID: 2965, updated on 11-Apr-2024

    Summary

    Official Symbol
    GTF2H1provided by HGNC
    Official Full Name
    general transcription factor IIH subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:4655
    See related
    Ensembl:ENSG00000110768 MIM:189972; AllianceGenome:HGNC:4655
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P62; BTF2; TFB1; TFIIH
    Summary
    Enables thyroid hormone receptor binding activity. Involved in positive regulation of transcription, DNA-templated and transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 18.1), thyroid (RPKM 12.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    11p15.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18322567..18367045)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18418103..18462582)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18344114..18388592)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 334 Neighboring gene MPRA-validated peak1223 silencer Neighboring gene serum amyloid A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4494 Neighboring gene HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4495 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:18343272-18344471 Neighboring gene uncharacterized LOC105376577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:18415405-18416069 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:18416070-18416735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3191 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:18417470-18417971 Neighboring gene microRNA 3159 Neighboring gene lactate dehydrogenase A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.
    EBI GWAS Catalog
    Genome-wide association study of survival in patients with pancreatic adenocarcinoma.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of general transcription factor IIH, polypeptide 1 (GTF2H1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat TFIIH synergizes with HIV-1 Tat to induce transcription elongation from the HIV-1 LTR promoter PubMed
    tat Interaction of HIV-1 Tat with TFIIH stimulates phosphorylation of Ser-5 of the RNA polymerase II C-terminal domain (CTD), which in turn also stimulates co-transcriptional capping of HIV-1 mRNA PubMed
    tat TFIIH interacts with HIV-1 Tat as a component of the HIV-1 transcription preinitiation complex, but is released from the elongation complex which includes P-TEFb PubMed
    tat CAK/TFIIH is required for HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter PubMed
    tat Amino acids 1-48 of HIV-1 Tat, which includes the Tat activation domain, mediate the binding of Tat to CAK and the TFIIH complex through a direct interaction with CDK7 and possibly other TFIIH subunits, including p62 and ERCC3 PubMed
    tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIH, during Tat-mediated transactivation of the HIV-1 LTR PubMed
    Vpr vpr TFIIH inhibits HIV-1 Vpr cell cycle-arresting function PubMed
    vpr TFIIH enhances the synergistic activation of glucocorticoid receptor by HIV-1 Vpr and p300 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nuclear thyroid hormone receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of transcription factor TFIIH core complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transcription factor TFIIH core complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription factor TFIIH holo complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transcription factor TFIIH holo complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    general transcription factor IIH subunit 1
    Names
    BTF2 p62
    TFIIH basal transcription factor complex p62 subunit
    basic transcription factor 2 62 kDa subunit
    epididymis secretory sperm binding protein
    general transcription factor IIH polypeptide 1
    general transcription factor IIH, polypeptide 1, 62kDa

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001142307.2NP_001135779.1  general transcription factor IIH subunit 1

      See identical proteins and their annotated locations for NP_001135779.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AC084117, AI275181, AK027003, BC004452
      Consensus CDS
      CCDS7838.1
      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8, B2R7G4
      Related
      ENSP00000393638.2, ENST00000453096.6
      Conserved Domains (2) summary
      smart00751
      Location:182232
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:9102
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain
    2. NM_005316.4NP_005307.1  general transcription factor IIH subunit 1

      See identical proteins and their annotated locations for NP_005307.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript.
      Source sequence(s)
      AC084117, AI275181, BC004452, M95809
      Consensus CDS
      CCDS7838.1
      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8, B2R7G4
      Related
      ENSP00000265963.4, ENST00000265963.9
      Conserved Domains (2) summary
      smart00751
      Location:182232
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:9102
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      18322567..18367045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448457.2XP_024304225.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8, B2R7G4
      Conserved Domains (2) summary
      smart00751
      Location:182232
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:9102
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain
    2. XM_006718208.4XP_006718271.1  general transcription factor IIH subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_006718271.1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8, B2R7G4
      Conserved Domains (2) summary
      smart00751
      Location:182232
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:9102
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain
    3. XM_024448458.2XP_024304226.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8, B2R7G4
      Conserved Domains (2) summary
      smart00751
      Location:182232
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:9102
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160006.1 Reference GRCh38.p14 PATCHES

      Range
      71393..115871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332525.1XP_054188500.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8
    2. XM_054332524.1XP_054188499.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8
    3. XM_054332526.1XP_054188501.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      18418103..18462582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368587.1XP_054224562.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8
    2. XM_054368586.1XP_054224561.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8
    3. XM_054368588.1XP_054224563.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8