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

Gene ID: 14884, updated on 18-Apr-2024

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 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
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Genomic context

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

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 Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001291075.1NP_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
    O35637, Q9DBA9
    UniProtKB/TrEMBL
    E9QKD9
    Related
    ENSMUSP00000103271.2, ENSMUST00000107644.2
    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
    UniProtKB/Swiss-Prot
    O35637, Q9DBA9
    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
    Consensus CDS
    CCDS80729.1
    UniProtKB/Swiss-Prot
    O35637, Q9DBA9
    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
  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
    O35637, Q9DBA9
    UniProtKB/TrEMBL
    G3X8R4
    Related
    ENSMUSP00000006774.5, ENSMUST00000006774.11
    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: 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)