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    GTF2H5 general transcription factor IIH subunit 5 [ Homo sapiens (human) ]

    Gene ID: 404672, updated on 7-Apr-2024

    Summary

    Official Symbol
    GTF2H5provided by HGNC
    Official Full Name
    general transcription factor IIH subunit 5provided by HGNC
    Primary source
    HGNC:HGNC:21157
    See related
    Ensembl:ENSG00000272047 MIM:608780; AllianceGenome:HGNC:21157
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TTD; TFB5; TTD3; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2
    Summary
    This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in brain (RPKM 4.4), fat (RPKM 3.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    6q25.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (158168350..158199344)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (159413734..159444757)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (158589382..158620376)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25345 Neighboring gene SYNJ2 intronic transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158447101-158447788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158447789-158448476 Neighboring gene Sharpr-MPRA regulatory region 12557 Neighboring gene synaptojanin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:158458586-158459280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:158461967-158462502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:158470498-158471112 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:158490014-158491213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158492197-158492760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158492761-158493322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158516915-158517415 Neighboring gene MPRA-validated peak6269 silencer Neighboring gene serine active site containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:158604236-158604740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:158604741-158605243 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:158615403-158616003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:158653118-158653990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25350 Neighboring gene signal recognition particle 72 pseudogene 2 Neighboring gene TUB like protein 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:158706531-158707245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17738 Neighboring gene uncharacterized LOC124901447

    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

    Associated conditions

    Description Tests
    Trichothiodystrophy 3, photosensitive
    MedGen: C4017171 OMIM: 616395 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours among Bangladeshi adults.
    EBI GWAS Catalog

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of transcription factor TFIID complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription factor TFIIH core complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transcription factor TFIIH holo complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    general transcription factor IIH subunit 5
    Names
    TFB5 ortholog
    TFIIH basal transcription factor complex TTD-A subunit
    TFIIH basal transcription factor complex TTDA subunit
    TFIIH subunit p8
    general transcription factor IIH, polypeptide 5

    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.

    Genomic

    1. NG_011758.1 RefSeqGene

      Range
      5001..35998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_469

    mRNA and Protein(s)

    1. NM_207118.3NP_997001.1  general transcription factor IIH subunit 5

      See identical proteins and their annotated locations for NP_997001.1

      Status: REVIEWED

      Source sequence(s)
      AL133347, AL590703, BC056906, BQ004444, CN403888
      Consensus CDS
      CCDS5256.1
      UniProtKB/Swiss-Prot
      Q0P5V8, Q6ZYL4
      Related
      ENSP00000476100.1, ENST00000607778.2
      Conserved Domains (1) summary
      pfam06331
      Location:169
      Tfb5; Transcription factor TFIIH complex subunit Tfb5

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      158168350..158199344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      159413734..159444757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)