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

    Gene ID: 14884, updated on 31-Jan-2019

    Summary

    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
    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
    Expression
    Ubiquitous expression in placenta adult (RPKM 21.5), testis adult (RPKM 11.4) and 28 other tissues See more
    Orthologs

    Genomic context

    See Gtf2h1 in Genome Data Viewer
    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

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    contributes_to DNA-dependent ATPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to RNA polymerase II CTD heptapeptide repeat 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 IEA
    Inferred from Electronic Annotation
    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
    PubMed 
    positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    transcription by RNA polymerase I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor TFIIH core complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription factor TFIIH holo complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription factor TFIIH holo complex ISO
    Inferred from Sequence Orthology
    more info
     

    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
    general transcription factor IIH, polypeptide 1 (62kD subunit)

    NCBI Reference Sequences (RefSeq)

    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) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (1) has a shorter and distinct N-terminus compared to isoform 3. Variants 1 and 4 both encode the same isoform (1).
      Source sequence(s)
      AC090123, AK005065, BC052837, BE136268
      Consensus CDS
      CCDS80729.1
      UniProtKB/Swiss-Prot
      Q9DBA9
      UniProtKB/TrEMBL
      E9QKD9, Q7TPY0
      Related
      ENSMUSP00000103271.1, ENSMUST00000107644.1
      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_001360075.1NP_001347004.1  general transcription factor IIH subunit 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC090122, AC090123
      Conserved Domains (2) summary
      smart00751
      Location:188238
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:16109
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain
    3. NM_001360076.1NP_001347005.1  general transcription factor IIH subunit 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (1) has a shorter and distinct N-terminus compared to isoform 3. Variants 1 and 4 both encode the same isoform (1).
      Source sequence(s)
      AC090122, AC090123
      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
    4. 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 3. The resulting isoform (2) is shorter at the N-terminus compared to isoform 3.
      Source sequence(s)
      AK005065, BB610125, BC052837, BX632789
      Consensus CDS
      CCDS21287.1
      UniProtKB/Swiss-Prot
      Q9DBA9
      UniProtKB/TrEMBL
      G3X8R4, Q7TPY0
      Related
      ENSMUSP00000006774.4, ENSMUST00000006774.10
      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

    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

      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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