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

Gene ID: 14884, updated on 11-Apr-2024

Summary

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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 AllianceGenome:MGI:1277216
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; BTF2 p62
Summary
Predicted to enable chromatin binding activity and thyroid hormone receptor binding activity. Acts upstream of or within cellular response to leukemia inhibitory factor. Located in nucleus. Is expressed in testis. Orthologous to human GTF2H1 (general transcription factor IIH subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta adult (RPKM 21.5), testis adult (RPKM 11.4) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Gtf2h1 in Genome Data Viewer
Location:
7 B3; 7 30.58 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (46445518..46473224)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (46796094..46823800)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene serum amyloid A 2 Neighboring gene STARR-seq mESC enhancer starr_18870 Neighboring gene HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 Neighboring gene STARR-positive B cell enhancer ABC_E6548 Neighboring gene STARR-seq mESC enhancer starr_18871 Neighboring gene STARR-seq mESC enhancer starr_18872 Neighboring gene Rap1A-retro1 Neighboring gene STARR-seq mESC enhancer starr_18874 Neighboring gene predicted gene 5331 Neighboring gene lactate dehydrogenase A Neighboring gene predicted gene, 39011

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. The insulin-like growth factor 2 (IGF2) mRNA-binding protein p62/IGF2BP2-2 as a promoter of NAFLD and HCC? Simon Y, et al. Gut, 2014 May. PMID 24173291, Free PMC Article
  2. p62 expression and autophagy in αB-crystallin R120G mutant knock-in mouse model of hereditary cataract. Wignes JA, et al. Exp Eye Res, 2013 Oct. PMID 23872361, Free PMC Article
  3. Autophagy and p62 in cardiac proteinopathy. Zheng Q, et al. Circ Res, 2011 Jul 22. PMID 21659648, Free PMC Article
  4. Molecular characterization and developmental expression of the TFIIH factor p62 gene from Drosophila melanogaster: effects on the UV light sensitivity of a p62 mutant fly. Castro J, et al. DNA Repair (Amst), 2002 May 30. PMID 12509240
  5. Genomic organization and promoter characterization of the mouse and human genes encoding p62 subunit of the transcription/DNA repair factor TFIIH. Perez C, et al. Gene, 1998 Jun 15. PMID 9630526

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Mechanism of TNF-alpha-Mediated Accumulation of Phosphorylated Tau Protein and Its Modulation by Propofol in Primary Mouse Hippocampal Neurons: Role of Mitophagy, NLRP3, and p62/Keap1/Nrf2 Pathway.
    Title: The Mechanism of TNF-α-Mediated Accumulation of Phosphorylated Tau Protein and Its Modulation by Propofol in Primary Mouse Hippocampal Neurons: Role of Mitophagy, NLRP3, and p62/Keap1/Nrf2 Pathway.
  2. Mice with a liver overexpression of insulin-like growth factor 2 (IGF2) mRNA-binding protein p62/IMP2-2/IGF2BP2-2 show elevated Ccl2 levels, which models all stages of non-alcoholic fatty liver disease.
    Title: The insulin-like growth factor 2 (IGF2) mRNA-binding protein p62/IGF2BP2-2 as a promoter of NAFLD and HCC?
  3. We propose that autophagy is inhibited in the alphaB-R120G mutant lenses because of a defect in protein degradation after autophagosome formation.
    Title: p62 expression and autophagy in αB-crystallin R120G mutant knock-in mouse model of hereditary cataract.
  4. p62 is up-regulated in mouse proteinopathic hearts and promotes aggresome formation and autophagy activation and protects cardiomyocytes against proteotoxic stress
    Title: Autophagy and p62 in cardiac proteinopathy.
  5. cdk1 phosphorylates p62 in vitro and in vivo at T269 and S272, which is necessary for the maintenance of appropriate cyclin B1 levels and the levels of cdk1 activity necessary to allow cells to properly enter and exit mitosis.
    Title: Phosphorylation of p62 by cdk1 controls the timely transit of cells through mitosis and tumor cell proliferation.
  6. p62 is a crucial regulator of ERK1 in metabolism
    Title: A functional role for the p62-ERK1 axis in the control of energy homeostasis and adipogenesis.
  7. These data demonstrate that PKCzeta and its adaptor protein p62 play a key role in the modulation of K(V) channel function in pulmonary arteries.
    Title: Role of protein kinase Czeta and its adaptor protein p62 in voltage-gated potassium channel modulation in pulmonary arteries.
  8. p62 normally antagonizes basal ERK activity and adipocyte differentiation and that its loss leads to the hyperactivation of ERK that favors adipogenesis and obesity.
    Title: Mature-onset obesity and insulin resistance in mice deficient in the signaling adapter p62.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 
  • Endonuclease-mediated (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
  
enables nuclear thyroid hormone receptor binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
  
involved_in DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in nucleotide-excision repair IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
involved_in transcription by RNA polymerase I IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
involved_in transcription initiation at RNA polymerase II promoter ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus 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 core complex ISO
Inferred from Sequence Orthology
more info
  
part_of transcription factor TFIIH holo complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transcription factor TFIIH holo complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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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)

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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_001291075.1 → NP_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
    O35637, Q9DBA9
    UniProtKB/TrEMBL
    E9QKD9
    Related
    ENSMUSP00000103271.2, ENSMUST00000107644.2
    Conserved Domains (2) summary
    smart00751
    Location:187 → 237
    BSD; domain in transcription factors and synapse-associated proteins
    cd13229
    Location:15 → 108
    PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

  2. NM_001360075.1 → NP_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
    UniProtKB/Swiss-Prot
    O35637, Q9DBA9
    Conserved Domains (2) summary
    smart00751
    Location:188 → 238
    BSD; domain in transcription factors and synapse-associated proteins
    cd13229
    Location:16 → 109
    PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

  3. NM_001360076.1 → NP_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
    Consensus CDS
    CCDS80729.1
    UniProtKB/Swiss-Prot
    O35637, Q9DBA9
    UniProtKB/TrEMBL
    E9QKD9
    Conserved Domains (2) summary
    smart00751
    Location:187 → 237
    BSD; domain in transcription factors and synapse-associated proteins
    cd13229
    Location:15 → 108
    PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

  4. NM_008186.4 → NP_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
    O35637, Q9DBA9
    UniProtKB/TrEMBL
    G3X8R4
    Related
    ENSMUSP00000006774.5, ENSMUST00000006774.11
    Conserved Domains (2) summary
    smart00751
    Location:181 → 231
    BSD; domain in transcription factors and synapse-associated proteins
    cd13229
    Location:9 → 102
    PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    46445518..46473224
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9DBA9.2 GenPept UniProtKB/Swiss-Prot:Q9DBA9

Gene LinkOut

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