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This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]
GTF2H3 (General Transcription Factor IIH Subunit 3) is a Protein Coding gene. Diseases associated with GTF2H3 include Leukoencephalopathy With Vanishing White Matter and Xeroderma Pigmentosum, Complementation Group B. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein N-terminus binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004672 | protein kinase activity | IDA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008094 | contributes_to DNA-dependent ATPase activity | IBA | 21873635 |
GO:0008353 | contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity | IBA | 21873635 |
GO:0016251 | RNA polymerase II general transcription initiation factor activity | IDA | 27193682 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000438 | core TFIIH complex portion of holo TFIIH complex | IDA | 27193682 |
GO:0000439 | transcription factor TFIIH core complex | IEA,IBA | 21873635 |
GO:0005634 | nucleus | IEA,IDA | 27193682 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005669 | transcription factor TFIID complex | IDA | 27193682 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | HIV Transcription Elongation |
.93
|
|
2 | RNA Polymerase II Transcription Initiation And Promoter Clearance |
Assembly of RNA Polymerase-II Initiation Complex
.91
Transcription of mRNA
.91
|
Protein Acetylation and Deacetylation
.51
Crosstalk Between CARM1 and ESRs
.39
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
.33
|
3 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
4 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
5 | HIV Life Cycle |
.91
.65
|
.45
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000717 | nucleotide-excision repair, DNA duplex unwinding | TAS | -- |
GO:0006281 | DNA repair | TAS | 8194529 |
GO:0006283 | transcription-coupled nucleotide-excision repair | TAS | -- |
GO:0006289 | nucleotide-excision repair | IEA,IBA | 21873635 |
GO:0006293 | nucleotide-excision repair, preincision complex stabilization | TAS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GTF2H3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GTF2H3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | GTF2H3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GTF2H3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gtf2h3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gtf2h3 30 |
|
||
Chicken (Gallus gallus) |
Aves | GTF2H3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GTF2H3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gtf2h3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24760 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gtf2h3 31 |
|
OneToOne | |
gtf2h3-2 30 |
|
||||
Dr.27486 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6345 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008522 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tfb4 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | ZK1128.4 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL323C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B08569g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TFB4 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G18340 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0125800 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | tfb4 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3315 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU01580 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6370 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
778081 | Likely Benign: not provided | 123,633,862(+) | G/A | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs558453538 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,633,740(+) | G/C | FIVE_PRIME_UTR_VARIANT | |
rs576953141 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,633,750(+) | C/A | FIVE_PRIME_UTR_VARIANT | |
rs778832726 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,633,765(+) | C/T | FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1566n100 | CNV | gain | 25217958 |
dgv1567n100 | CNV | gain | 25217958 |
dgv1568n100 | CNV | loss | 25217958 |
dgv2926n54 | CNV | gain | 21841781 |
dgv309e214 | CNV | gain | 21293372 |
esv2759918 | CNV | gain | 17122850 |
esv35148 | CNV | gain | 17911159 |
nsv1042181 | CNV | gain | 25217958 |
nsv1051385 | CNV | gain | 25217958 |
nsv1052065 | CNV | gain+loss | 25217958 |
nsv442292 | CNV | gain | 18776908 |
nsv455733 | CNV | gain | 19166990 |
nsv524660 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leukoencephalopathy with vanishing white matter |
|
|
xeroderma pigmentosum, complementation group b |
|
|
cockayne syndrome |
|
|
xeroderma pigmentosum, complementation group d |
|
|
trichothiodystrophy 1, photosensitive |
|
|