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Aliases for GTF2H1 Gene

Aliases for GTF2H1 Gene

  • General Transcription Factor IIH Subunit 1 2 3 3 5
  • General Transcription Factor IIH, Polypeptide 1, 62kDa 2 3
  • TFIIH Basal Transcription Factor Complex P62 Subunit 3 4
  • General Transcription Factor IIH Polypeptide 1 3 4
  • Basic Transcription Factor 2 62 KDa Subunit 3 4
  • BTF2 P62 3 4
  • BTF2 3 4
  • General Transcription Factor IIH, Polypeptide 1 (62kD Subunit) 2
  • TFIIH 3
  • TFB1 3
  • P62 3

External Ids for GTF2H1 Gene

Previous GeneCards Identifiers for GTF2H1 Gene

  • GC11P019465
  • GC11P019286
  • GC11P018382
  • GC11P018308
  • GC11P018300
  • GC11P018026

Summaries for GTF2H1 Gene

GeneCards Summary for GTF2H1 Gene

GTF2H1 (General Transcription Factor IIH Subunit 1) is a Protein Coding gene. Diseases associated with GTF2H1 include Rift Valley Fever and Hermansky-Pudlak Syndrome 5. Among its related pathways are Gene Expression and RNA Polymerase II Transcription Initiation And Promoter Clearance. Gene Ontology (GO) annotations related to this gene include protein kinase activity and RNA polymerase II carboxy-terminal domain kinase activity.

UniProtKB/Swiss-Prot for GTF2H1 Gene

  • Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.

Gene Wiki entry for GTF2H1 Gene

Additional gene information for GTF2H1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2H1 Gene

Genomics for GTF2H1 Gene

GeneHancer (GH) Regulatory Elements for GTF2H1 Gene

Promoters and enhancers for GTF2H1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J018320 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 722.1 +0.5 482 5.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 GTF2H1 HPS5 SAA2 SAAL1 SPTY2D1 ENSG00000256361 TSG101 LOC100129966 ENSG00000256588 LOC105376577
GH11J018105 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 36.7 -216.4 -216407 1.7 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B SAAL1 HIGD1AP5 GTF2H1 SPTY2D1 ENSG00000256361 TSG101 MRGPRX3 ENSG00000256588 LOC100129966 TPH1
GH11J018010 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 24.6 -309.7 -309730 3.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF143 ZNF548 SERGEF SAAL1 SNORD14A GTF2H1 SNORD14B SPTY2D1 ENSG00000256361 LOC100129966 TSG101 ENSG00000255448
GH11J018309 Enhancer 1.2 Ensembl ENCODE dbSUPER 42.6 -9.6 -9588 5.4 FOXA2 ZFP64 BATF IRF4 RFX5 YY1 RCOR1 ETV6 IKZF2 RUNX3 GTF2H1 SPTY2D1 SAAL1 ENSG00000256361 LDHA LDHC HPS5 SERGEF RNA5SP334
GH11J018525 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.9 +204.7 204672 2.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B TSG101 GC11P018527 GTF2H1 SAAL1 LDHC LDHA HPS5 SPTY2D1OS LOC100129966 ENSG00000256361
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTF2H1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GTF2H1 gene promoter:
  • Meis-1b
  • Meis-1a
  • Meis-1
  • FOXO1a
  • FOXO1
  • GATA-1
  • Pbx1a
  • ATF-2
  • En-1
  • Cdc5

Genomic Locations for GTF2H1 Gene

Genomic Locations for GTF2H1 Gene
chr11:18,322,269-18,367,044
(GRCh38/hg38)
Size:
44,776 bases
Orientation:
Plus strand
chr11:18,343,816-18,388,591
(GRCh37/hg19)
Size:
44,776 bases
Orientation:
Plus strand

Genomic View for GTF2H1 Gene

Genes around GTF2H1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2H1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2H1 Gene

Proteins for GTF2H1 Gene

  • Protein details for GTF2H1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32780-TF2H1_HUMAN
    Recommended name:
    General transcription factor IIH subunit 1
    Protein Accession:
    P32780
    Secondary Accessions:
    • B3KXE0
    • D3DQY2
    • Q6I9Y7
    • Q9H5K5
    • Q9NQD9

    Protein attributes for GTF2H1 Gene

    Size:
    548 amino acids
    Molecular mass:
    62032 Da
    Quaternary structure:
    • Component of the 7-subunit TFIIH core complex composed of XPB/ERCC3, XPD/ERCC2, GTF2H1, GTF2H2, GTF2H3, GTF2H4 and GTF2H5, which is active in NER. The core complex associates with the 3-subunit CDK-activating kinase (CAK) module composed of CCNH/cyclin H, CDK7 and MNAT1 to form the 10-subunit holoenzyme (holo-TFIIH) active in transcription. Interacts with PUF60.

    Three dimensional structures from OCA and Proteopedia for GTF2H1 Gene

    Alternative splice isoforms for GTF2H1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2H1 Gene

Post-translational modifications for GTF2H1 Gene

  • Ubiquitination at Lys218 and Lys93
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GTF2H1 Gene

Domains & Families for GTF2H1 Gene

Gene Families for GTF2H1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for GTF2H1 Gene

Graphical View of Domain Structure for InterPro Entry

P32780

UniProtKB/Swiss-Prot:

TF2H1_HUMAN :
  • Belongs to the TFB1 family.
Family:
  • Belongs to the TFB1 family.
genes like me logo Genes that share domains with GTF2H1: view

Function for GTF2H1 Gene

Molecular function for GTF2H1 Gene

UniProtKB/Swiss-Prot Function:
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.
GENATLAS Biochemistry:
general transcription factor IIH,polypeptide 1 (62kDa),overexpressed in testis

Phenotypes From GWAS Catalog for GTF2H1 Gene

Gene Ontology (GO) - Molecular Function for GTF2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0004672 contributes_to protein kinase activity IDA 9852112
GO:0005515 protein binding IPI 8652557
GO:0008094 contributes_to DNA-dependent ATPase activity IDA 9852112
GO:0008353 contributes_to RNA polymerase II carboxy-terminal domain kinase activity IDA 9852112
genes like me logo Genes that share ontologies with GTF2H1: view
genes like me logo Genes that share phenotypes with GTF2H1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2H1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GTF2H1 Gene

Localization for GTF2H1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2H1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GTF2H1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GTF2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000439 core TFIIH complex IEA,IBA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005675 holo TFIIH complex IEA,IDA 9852112
genes like me logo Genes that share ontologies with GTF2H1: view

Pathways & Interactions for GTF2H1 Gene

SuperPathways for GTF2H1 Gene

SuperPathway Contained pathways
1 Formation of HIV-1 elongation complex containing HIV-1 Tat
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
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
.45
genes like me logo Genes that share pathways with GTF2H1: view

Gene Ontology (GO) - Biological Process for GTF2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity TAS 7533895
GO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0006281 DNA repair TAS 9118947
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair IEA --
genes like me logo Genes that share ontologies with GTF2H1: view

No data available for SIGNOR curated interactions for GTF2H1 Gene

Drugs & Compounds for GTF2H1 Gene

No Compound Related Data Available

Transcripts for GTF2H1 Gene

Unigene Clusters for GTF2H1 Gene

General transcription factor IIH, polypeptide 1, 62kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2H1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2H1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - -
SP5: -
SP6: -
SP7: - - - -
SP8: - - - - - - -
SP9:
SP10: - -
SP11:
SP12: - - -
SP13:

ExUns: 15b · 15c ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c ^ 19
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6: - -
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:

Relevant External Links for GTF2H1 Gene

GeneLoc Exon Structure for
GTF2H1
ECgene alternative splicing isoforms for
GTF2H1

Expression for GTF2H1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GTF2H1 Gene

Protein differential expression in normal tissues from HIPED for GTF2H1 Gene

This gene is overexpressed in Breast (12.5), Monocytes (11.9), Tlymphocyte (9.1), and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTF2H1 Gene



Protein tissue co-expression partners for GTF2H1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GTF2H1 Gene:

GTF2H1

SOURCE GeneReport for Unigene cluster for GTF2H1 Gene:

Hs.577202

Evidence on tissue expression from TISSUES for GTF2H1 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with GTF2H1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTF2H1 Gene

Orthologs for GTF2H1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GTF2H1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTF2H1 34 33
  • 99.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2H1 34 33
  • 94.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GTF2H1 34 33
  • 94 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GTF2H1 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtf2h1 16 34 33
  • 91.77 (n)
rat
(Rattus norvegicus)
Mammalia Gtf2h1 33
  • 91.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2H1 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves GTF2H1 34 33
  • 84.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTF2H1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2h1 33
  • 75.69 (n)
Str.597 33
African clawed frog
(Xenopus laevis)
Amphibia gtf2h1-prov 33
zebrafish
(Danio rerio)
Actinopterygii gtf2h1 34 34 33
  • 70.5 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Tfb1 34 35 33
  • 52.21 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011110 33
  • 49.75 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_R02D3.3 33
  • 46.95 (n)
R02D3.3 34
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB1 36 34
  • 16 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G61420 33
  • 44.02 (n)
rice
(Oryza sativa)
Liliopsida Os08g0338200 33
  • 43.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2806 34
  • 46 (a)
OneToOne
Species where no ortholog for GTF2H1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GTF2H1 Gene

ENSEMBL:
Gene Tree for GTF2H1 (if available)
TreeFam:
Gene Tree for GTF2H1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GTF2H1: view image

Paralogs for GTF2H1 Gene

Pseudogenes.org Pseudogenes for GTF2H1 Gene

genes like me logo Genes that share paralogs with GTF2H1: view

No data available for Paralogs for GTF2H1 Gene

Variants for GTF2H1 Gene

Sequence variations from dbSNP and Humsavar for GTF2H1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs4150527 uncertain-significance, Hermansky-Pudlak syndrome 18,321,987(+) G/C upstream_transcript_variant
rs4150528 likely-benign, Hermansky-Pudlak syndrome 18,322,038(+) G/A upstream_transcript_variant
rs4150529 likely-benign, Hermansky-Pudlak syndrome 18,322,146(+) C/A upstream_transcript_variant
rs4150530 likely-benign, Hermansky-Pudlak syndrome 18,322,147(+) G/T upstream_transcript_variant
rs761585857 uncertain-significance, Hermansky-Pudlak syndrome 18,322,113(+) C/A/G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2H1 Gene

Variant ID Type Subtype PubMed ID
nsv475350 CNV novel sequence insertion 20440878
nsv475868 CNV novel sequence insertion 20440878
nsv475874 CNV novel sequence insertion 20440878
nsv476378 CNV novel sequence insertion 20440878
nsv479156 CNV novel sequence insertion 20440878
nsv481064 CNV novel sequence insertion 20440878
nsv481245 CNV novel sequence insertion 20440878
nsv509392 CNV insertion 20534489
nsv510999 OTHER complex 20534489
nsv523373 CNV loss 19592680
nsv553633 CNV gain 21841781
nsv7695 CNV insertion 18451855

Variation tolerance for GTF2H1 Gene

Residual Variation Intolerance Score: 19.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.67; 31.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GTF2H1 Gene

Human Gene Mutation Database (HGMD)
GTF2H1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTF2H1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2H1 Gene

Disorders for GTF2H1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GTF2H1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rift valley fever
hermansky-pudlak syndrome 5
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
xeroderma pigmentosum, complementation group b
  • xpb
cockayne syndrome
  • cs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GTF2H1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GTF2H1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GTF2H1 Gene

Publications for GTF2H1 Gene

  1. Genetic variants in GTF2H1 and risk of lung cancer: a case-control analysis in a Chinese population. (PMID: 18692935) Wu W … Lu D (Lung cancer (Amsterdam, Netherlands) 2009) 3 22 44 58
  2. Cloning of the 62-kilodalton component of basic transcription factor BTF2. (PMID: 1529339) Fischer L … Egly JM (Science (New York, N.Y.) 1992) 2 3 4 58
  3. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs FB … International Multiple Sclerosis Genetics Consortium (American journal of epidemiology 2010) 3 44 58
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58
  5. Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A. (PMID: 21124955) Marzi C … Gieger C (PLoS genetics 2010) 3 44 58

Products for GTF2H1 Gene

Sources for GTF2H1 Gene

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