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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 paget disease of bone 3 and frontotemporal dementia and/or amyotrophic lateral sclerosis 3. Among its related pathways are Gene Expression and HIV Life Cycle. 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2H1 Gene

Genomics for GTF2H1 Gene

Regulatory Elements for GTF2H1 Gene

Promoters for GTF2H1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GTF2H1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for GTF2H1 Gene at MOPED

Post-translational modifications for GTF2H1 Gene

  • Ubiquitination at Lys 93 and Lys 218
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for GTF2H1

No data available for DME Specific Peptides for GTF2H1 Gene

Domains & Families for GTF2H1 Gene

Gene Families for GTF2H1 Gene

Protein Domains for GTF2H1 Gene

Graphical View of Domain Structure for InterPro Entry

P32780

UniProtKB/Swiss-Prot:

TF2H1_HUMAN :
  • Contains 2 BSD domains.
Domain:
  • Contains 2 BSD domains.
genes like me logo Genes that share domains with GTF2H1: view

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.
genes like me logo Genes that share phenotypes with GTF2H1: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for GTF2H1 Gene 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:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with GTF2H1: view

Pathways & Interactions for GTF2H1 Gene

SuperPathways for GTF2H1 Gene

Superpath Contained pathways
1 RNA Polymerase II Transcription Initiation And Promoter Clearance
2 Formation of the HIV-1 Early Elongation Complex
3 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
4 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
5 Assembly of RNA Polymerase-II Initiation Complex
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:0006293 nucleotide-excision repair, preincision complex stabilization TAS --
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:

Inhibitory RNA Products

Flow Cytometry 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 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, MOPED, and MaxQB for GTF2H1 Gene



SOURCE GeneReport for Unigene cluster for GTF2H1 Gene Hs.577202

genes like me logo Genes that share expression patterns with GTF2H1: view

Protein tissue co-expression partners for GTF2H1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia GTF2H1 35
  • 94 (n)
  • 97.51 (a)
GTF2H1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2H1 35
  • 94.28 (n)
  • 98.18 (a)
GTF2H1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtf2h1 35
  • 91.77 (n)
  • 97.26 (a)
Gtf2h1 16
Gtf2h1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GTF2H1 35
  • 99.76 (n)
  • 99.64 (a)
GTF2H1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gtf2h1 35
  • 91.54 (n)
  • 96.9 (a)
oppossum
(Monodelphis domestica)
Mammalia GTF2H1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2H1 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves GTF2H1 35
  • 84.58 (n)
  • 89.58 (a)
GTF2H1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTF2H1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2h1 35
  • 75.69 (n)
  • 84.1 (a)
Str.597 35
African clawed frog
(Xenopus laevis)
Amphibia gtf2h1-prov 35
zebrafish
(Danio rerio)
Actinopterygii gtf2h1 35
  • 70.5 (n)
  • 77.01 (a)
gtf2h1 36
  • 76 (a)
OneToMany
gtf2h1 36
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Tfb1 37
  • 44 (a)
Tfb1 35
  • 52.21 (n)
  • 49.72 (a)
Tfb1 36
  • 45 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011110 35
  • 49.75 (n)
  • 48.13 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_R02D3.3 35
  • 46.95 (n)
  • 34.7 (a)
R02D3.3 36
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB1 36
  • 16 (a)
OneToOne
TFB1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G61420 35
  • 44.02 (n)
  • 30.26 (a)
rice
(Oryza sativa)
Liliopsida Os08g0338200 35
  • 43.29 (n)
  • 30.37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2806 36
  • 46 (a)
OneToOne
Species with no ortholog for GTF2H1:
  • 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
rs4150603 - 18,341,353(+) GGGAT(C/T)GGCTG reference, missense
VAR_014346 -
rs4150665 - 18,360,696(+) AGTAT(G/T)TAAGC reference, missense
rs4596 -- 18,366,581(-) ATATT(C/G)CCTCT utr-variant-3-prime
rs2068545 -- 18,329,504(+) TCTCC(A/T)GTCTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7695 CNV Insertion 18451855
nsv509392 CNV Insertion 20534489
nsv510999 CNV Complex 20534489
nsv523373 CNV Loss 19592680

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

HapMap Linkage Disequilibrium report
GTF2H1
Human Gene Mutation Database (HGMD)
GTF2H1

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

Disorders for GTF2H1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GTF2H1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
paget disease of bone 3
  • osteitis deformans
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • ftdals3
rift valley fever
xeroderma pigmentosum, group b
  • xeroderma pigmentosum complementation group b
xeroderma pigmentosum, group c
  • xeroderma pigmentosum, type 3
- 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. Cloning of the 62-kilodalton component of basic transcription factor BTF2. (PMID: 1529339) Fischer L. … Egly J.-M. (Science 1992) 2 3 4 67
  2. 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 23
  3. Structural insight into the TFIIE-TFIIH interaction: TFIIE and p53 share the binding region on TFIIH. (PMID: 18354501) Okuda M. … Nishimura Y. (EMBO J. 2008) 3 23
  4. Structure of the Tfb1/p53 complex: Insights into the interaction between the p62/Tfb1 subunit of TFIIH and the activation domain of p53. (PMID: 16793543) Di Lello P. … Omichinski J.G. (Mol. Cell 2006) 3 23
  5. NMR structure of the amino-terminal domain from the Tfb1 subunit of TFIIH and characterization of its phosphoinositide and VP16 binding sites. (PMID: 15909982) Di Lello P. … Omichinski J.G. (Biochemistry 2005) 3 23

Products for GTF2H1 Gene

Sources for GTF2H1 Gene

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