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Aliases for GTF2H1 Gene

Aliases for GTF2H1 Gene

  • General Transcription Factor IIH Subunit 1 2 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 Xeroderma Pigmentosum, Group B and Rift Valley Fever. Among its related pathways are HIV Life Cycle and CCR5 Pathway in Macrophages. 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 core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.

Gene Wiki entry 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

Regulatory Elements for GTF2H1 Gene

Enhancers for GTF2H1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G018309 1.4 Ensembl ENCODE dbSUPER 45.2 -9.6 -9588 5.4 FOXA2 ZFP64 RFX5 YY1 EGR1 RCOR1 RELB ETV6 IKZF2 CREM GTF2H1 SAAL1 TSG101 LDHA LDHC HPS5 LOC100129966 SERGEF RNA5SP334
GH11G018320 1.4 ENCODE dbSUPER 44.5 +0.5 482 5.1 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21 GTF2H1 SAAL1 ENSG00000256361 LOC105376579 TSG101 LOC100129966 HPS5 ENSG00000256588 SPTY2D1 LOC105376577
GH11G018371 1.3 ENCODE dbSUPER 44.4 +49.7 49668 1.8 HNRNPUL1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 FOS GTF2H1 HPS5 LDHA LDHC GC11P018373 LOC105376577
GH11G018328 1.4 Ensembl ENCODE dbSUPER 34.5 +7.8 7758 2.7 HDAC1 PKNOX1 TBL1XR1 ARNT NFRKB GATA2 FOS ETV6 IKZF2 CREM GTF2H1 LDHA LDHC HPS5 LOC105376577
GH11G018331 0.8 ENCODE dbSUPER 46.3 +10.6 10604 1.7 ZNF426 CEBPG ZNF394 RELA GTF2H1 LDHA SAAL1 TSG101 LOC100129966 SPTY2D1 HPS5 LOC105376577
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GTF2H1 on UCSC Golden Path with GeneCards custom track

Promoters for GTF2H1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000037603 -169 2601 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21

Genomic Location for GTF2H1 Gene

Chromosome:
11
Start:
18,322,269 bp from pter
End:
18,367,044 bp from pter
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:
    • One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. 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 isoforms=93 and isoforms=2218
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GTF2H1 Gene

Domains & Families for GTF2H1 Gene

Protein Domains for GTF2H1 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for GTF2H1 Gene

Molecular function for GTF2H1 Gene

GENATLAS Biochemistry:
general transcription factor IIH,polypeptide 1 (62kDa),overexpressed in testis
UniProtKB/Swiss-Prot Function:
Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.

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

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

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 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 RNA Polymerase II Transcription Initiation And Promoter Clearance
2 Formation of HIV elongation complex in the absence of HIV Tat
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

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, PaxDb, 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

Primer Products

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 35
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia GTF2H1 34 35
  • 94.28 (n)
cow
(Bos Taurus)
Mammalia GTF2H1 34 35
  • 94 (n)
oppossum
(Monodelphis domestica)
Mammalia GTF2H1 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtf2h1 34 16 35
  • 91.77 (n)
rat
(Rattus norvegicus)
Mammalia Gtf2h1 34
  • 91.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2H1 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves GTF2H1 34 35
  • 84.58 (n)
lizard
(Anolis carolinensis)
Reptilia GTF2H1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2h1 34
  • 75.69 (n)
Str.597 34
African clawed frog
(Xenopus laevis)
Amphibia gtf2h1-prov 34
zebrafish
(Danio rerio)
Actinopterygii gtf2h1 34 35 35
  • 70.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tfb1 36 34 35
  • 52.21 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011110 34
  • 49.75 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_R02D3.3 34
  • 46.95 (n)
R02D3.3 35
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB1 35 37
  • 16 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G61420 34
  • 44.02 (n)
rice
(Oryza sativa)
Liliopsida Os08g0338200 34
  • 43.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2806 35
  • 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)

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 Sequence Context AA Info Type
rs4150528 Likely benign 18,322,038(+) AGCCC(A/G)GAGGT intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs4150529 Likely benign 18,322,146(+) AAGAG(A/C)GGAAC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs4150530 Likely benign 18,322,147(+) AGAGC(G/T)GAACG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs4150527 Uncertain significance 18,321,987(+) CTTGA(C/G)AGGAG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs761585857 Uncertain significance 18,322,113(+) CCCGG(A/C/G/T)TTAGC intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links 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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, group b
  • xeroderma pigmentosum group b
rift valley fever
hermansky-pudlak syndrome 5
  • hps 5
xeroderma pigmentosum, group c
  • xeroderma pigmentosum group c
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GTF2H1

Genetic Association Database (GAD)
GTF2H1
Human Genome Epidemiology (HuGE) Navigator
GTF2H1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GTF2H1
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 2009) 3 22 46 64
  2. Cloning of the 62-kilodalton component of basic transcription factor BTF2. (PMID: 1529339) Fischer L. … Egly J.-M. (Science 1992) 2 3 4 64
  3. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs F.B. … Barcellos L.F. (Am. J. Epidemiol. 2010) 3 46 64
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 64
  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 Genet. 2010) 3 46 64

Products for GTF2H1 Gene

Sources for GTF2H1 Gene

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