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

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: human all
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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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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?
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.
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.
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.
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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235670

RH126259 (e-PCR)
- UniSTS:162967

Rap1a (e-PCR), detects polymorphism
- UniSTS:532892

AW822074 (e-PCR)
- UniSTS:208118

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)

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
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
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
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