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    Gtf2h1 general transcription factor II H, polypeptide 1 [ Mus musculus (house mouse) ]

    Gene ID: 14884, updated on 9-Jul-2017
    Official Symbol
    Gtf2h1provided by MGI
    Official Full Name
    general transcription factor II H, polypeptide 1provided by MGI
    Primary source
    MGI:MGI:1277216
    See related
    Ensembl:ENSMUSG00000006599 Vega:OTTMUSG00000024398
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    p62; 62kDa; C77871; AW743425; AW822074; BTF2 p62
    Orthologs
    Location:
    7; 7 B3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 7 NC_000073.6 (46796094..46823800)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (54051464..54079170)

    Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene serum amyloid A 2 Neighboring gene HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 Neighboring gene Rap1A-retro1 Neighboring gene predicted gene 5331 Neighboring gene lactate dehydrogenase A Neighboring gene predicted gene, 39011

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to DNA-dependent ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to DNA-dependent ATPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to RNA polymerase II carboxy-terminal domain kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to RNA polymerase II carboxy-terminal domain kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to protein kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to leukemia inhibitory factor IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    nucleotide-excision repair IEA
    Inferred from Electronic Annotation
    more info
     
    phosphorylation of RNA polymerase II C-terminal domain IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase I promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription from RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    core TFIIH complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    holo TFIIH complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    holo TFIIH complex ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    general transcription factor IIH, polypeptide 1 (62kD subunit)

    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_001291075.1NP_001278004.1  general transcription factor IIH subunit 1 isoform 1

      See identical proteins and their annotated locations for NP_001278004.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC090123, AK005065, BC052837, BE136268
      Consensus CDS
      CCDS80729.1
      UniProtKB/Swiss-Prot
      Q9DBA9
      UniProtKB/TrEMBL
      E9QKD9, Q7TPY0
      Related
      ENSMUSP00000103271.1, OTTMUSP00000029124, ENSMUST00000107644.1, OTTMUST00000059810
      Conserved Domains (2) summary
      smart00751
      Location:187237
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:15108
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain
    2. NM_008186.4NP_032212.3  general transcription factor IIH subunit 1 isoform 2

      See identical proteins and their annotated locations for NP_032212.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK005065, BB610125, BC052837, BX632789
      Consensus CDS
      CCDS21287.1
      UniProtKB/Swiss-Prot
      Q9DBA9
      UniProtKB/TrEMBL
      G3X8R4, Q7TPY0
      Related
      ENSMUSP00000006774.4, OTTMUSP00000029123, ENSMUST00000006774.10, OTTMUST00000059809
      Conserved Domains (2) summary
      smart00751
      Location:181231
      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: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000073.6 Reference GRCm38.p4 C57BL/6J

      Range
      46796094..46823800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540636.3XP_006540699.1  general transcription factor IIH subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_006540699.1

      UniProtKB/TrEMBL
      E9QKD9
      Conserved Domains (2) summary
      smart00751
      Location:187237
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:15108
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain
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