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Aliases for GTF2H5 Gene

Aliases for GTF2H5 Gene

  • General Transcription Factor IIH, Polypeptide 5 2 3
  • TFIIH Basal Transcription Factor Complex TTD-A Subunit 3 4
  • TFB5 Ortholog 3 4
  • C6orf175 3 4
  • TTDA 3 4
  • TFIIH Basal Transcription Factor Complex TTDA Subunit 3
  • DNA Repair Syndrome Trichothiodystrophy Group A 2
  • General Transcription Factor IIH Polypeptide 5 4
  • Chromosome 6 Open Reading Frame 175 2
  • Trichothiodystrophy 2
  • BA120J8.2 3
  • TGF2H5 3
  • TFIIH 3
  • TTD-A 3
  • TFB5 3
  • TTD3 3
  • TTD 3

External Ids for GTF2H5 Gene

Previous HGNC Symbols for GTF2H5 Gene

  • C6orf175
  • TTD

Previous GeneCards Identifiers for GTF2H5 Gene

  • GC06P158559
  • GC06P158509
  • GC06P156060

Summaries for GTF2H5 Gene

Entrez Gene Summary for GTF2H5 Gene

  • This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]

GeneCards Summary for GTF2H5 Gene

GTF2H5 (General Transcription Factor IIH, Polypeptide 5) is a Protein Coding gene. Diseases associated with GTF2H5 include trichothiodystrophy 3, photosensitive and nonphotosensitive trichothiodystrophy. Among its related pathways are Infectious disease and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include rDNA binding.

UniProtKB/Swiss-Prot for GTF2H5 Gene

  • Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.

Gene Wiki entry for GTF2H5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2H5 Gene

Genomics for GTF2H5 Gene

Regulatory Elements for GTF2H5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GTF2H5 Gene

Chromosome:
6
Start:
158,168,347 bp from pter
End:
158,199,344 bp from pter
Size:
30,998 bases
Orientation:
Plus strand

Genomic View for GTF2H5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GTF2H5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2H5 Gene

Proteins for GTF2H5 Gene

  • Protein details for GTF2H5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZYL4-TF2H5_HUMAN
    Recommended name:
    General transcription factor IIH subunit 5
    Protein Accession:
    Q6ZYL4
    Secondary Accessions:
    • Q0P5V8

    Protein attributes for GTF2H5 Gene

    Size:
    71 amino acids
    Molecular mass:
    8053 Da
    Quaternary structure:
    • Subunit of the TFIIH basal transcription factor complex that contains ERCC2, ERCC3, GTF2H1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, MNAT1, CDK7 and CCNH

    Three dimensional structures from OCA and Proteopedia for GTF2H5 Gene

neXtProt entry for GTF2H5 Gene

Proteomics data for GTF2H5 Gene at MOPED

Post-translational modifications for GTF2H5 Gene

  • Ubiquitination at Lys 31
  • Modification sites at PhosphoSitePlus

Other Protein References for GTF2H5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GTF2H5 Gene

Domains & Families for GTF2H5 Gene

Gene Families for GTF2H5 Gene

Protein Domains for GTF2H5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GTF2H5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZYL4

UniProtKB/Swiss-Prot:

TF2H5_HUMAN :
  • Belongs to the TFB5 family.
Family:
  • Belongs to the TFB5 family.
genes like me logo Genes that share domains with GTF2H5: view

Function for GTF2H5 Gene

Molecular function for GTF2H5 Gene

UniProtKB/Swiss-Prot Function:
Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.

Gene Ontology (GO) - Molecular Function for GTF2H5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000182 rDNA binding IEA --
genes like me logo Genes that share ontologies with GTF2H5: view
genes like me logo Genes that share phenotypes with GTF2H5: view

Animal Models for GTF2H5 Gene

MGI Knock Outs for GTF2H5:

Animal Model Products

miRNA for GTF2H5 Gene

miRTarBase miRNAs that target GTF2H5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GTF2H5 Gene

Localization for GTF2H5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2H5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GTF2H5 Gene COMPARTMENTS Subcellular localization image for GTF2H5 gene
Compartment Confidence
nucleus 2

Gene Ontology (GO) - Cellular Components for GTF2H5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000439 core TFIIH complex IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with GTF2H5: view

Pathways & Interactions for GTF2H5 Gene

SuperPathways for GTF2H5 Gene

Superpath Contained pathways
1 RNA Polymerase II Transcription Initiation And Promoter Clearance
2 Formation of the HIV-1 Early Elongation Complex
3 RNA Polymerase I Transcription
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 GTF2H5: view

Interacting Proteins for GTF2H5 Gene

Selected Interacting proteins: Q6ZYL4-TF2H5_HUMAN for GTF2H5 Gene via I2D

Gene Ontology (GO) - Biological Process for GTF2H5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair TAS --
GO:0006294 nucleotide-excision repair, preincision complex assembly IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with GTF2H5: view

No data available for SIGNOR curated interactions for GTF2H5 Gene

Drugs & Compounds for GTF2H5 Gene

No Compound Related Data Available

Transcripts for GTF2H5 Gene

mRNA/cDNA for GTF2H5 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(129) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GTF2H5 Gene

General transcription factor IIH, polypeptide 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2H5 Gene

No ASD Table

Relevant External Links for GTF2H5 Gene

GeneLoc Exon Structure for
GTF2H5
ECgene alternative splicing isoforms for
GTF2H5

Expression for GTF2H5 Gene

mRNA expression in normal human tissues for GTF2H5 Gene

Protein differential expression in normal tissues from HIPED for GTF2H5 Gene

This gene is overexpressed in Breast (54.7) and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for GTF2H5 Gene



SOURCE GeneReport for Unigene cluster for GTF2H5 Gene Hs.356224

genes like me logo Genes that share expression patterns with GTF2H5: view

Protein tissue co-expression partners for GTF2H5 Gene

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 GTF2H5 Gene

Orthologs for GTF2H5 Gene

This gene was present in the common ancestor of animals.

Orthologs for GTF2H5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GTF2H5 35
  • 92.49 (n)
  • 100 (a)
GTF2H5 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2H5 35
  • 94.37 (n)
  • 100 (a)
GTF2H5 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtf2h5 35
  • 87.32 (n)
  • 98.59 (a)
Gtf2h5 16
Gtf2h5 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GTF2H5 35
  • 99.06 (n)
  • 100 (a)
GTF2H5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gtf2h5 35
  • 91.08 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia GTF2H5 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2H5 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves GTF2H5 35
  • 82.16 (n)
  • 90.14 (a)
GTF2H5 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTF2H5 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2h5 35
  • 76.53 (n)
  • 83.1 (a)
zebrafish
(Danio rerio)
Actinopterygii gtf2h5 35
  • 76.53 (n)
  • 83.1 (a)
gtf2h5 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tfb5 35
  • 63.85 (n)
  • 64.79 (a)
Tfb5 36
  • 63 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y55B1AL.2 36
  • 45 (a)
OneToOne
Species with no ortholog for GTF2H5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GTF2H5 Gene

ENSEMBL:
Gene Tree for GTF2H5 (if available)
TreeFam:
Gene Tree for GTF2H5 (if available)

Paralogs for GTF2H5 Gene

No data available for Paralogs for GTF2H5 Gene

Variants for GTF2H5 Gene

Sequence variations from dbSNP and Humsavar for GTF2H5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs582657 -- 158,199,760(-) ctttc(G/T)tattt downstream-variant-500B
rs599345 -- 158,198,377(-) CTAGT(C/T)TTTCA utr-variant-3-prime
rs615107 -- 158,198,681(-) CGCCT(C/G)TAATC utr-variant-3-prime
rs628039 -- 158,196,540(-) ttttg(C/T)tgcaa utr-variant-3-prime
rs725208 -- 158,172,323(-) aaaaa(A/G)aaaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2H5 Gene

Variant ID Type Subtype PubMed ID
nsv886797 CNV Gain 21882294
nsv830849 CNV Loss 17160897
esv1252764 CNV Insertion 17803354
nsv823889 CNV Loss 20364138

Variation tolerance for GTF2H5 Gene

Residual Variation Intolerance Score: 57.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GTF2H5 Gene

HapMap Linkage Disequilibrium report
GTF2H5
Human Gene Mutation Database (HGMD)
GTF2H5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2H5 Gene

Disorders for GTF2H5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GTF2H5 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
trichothiodystrophy 3, photosensitive
  • trichothiodystrophy, complementation group a
nonphotosensitive trichothiodystrophy
  • hair-brain syndrome
trichothiodystrophy 1, photosensitive
  • bids syndrome
- elite association

UniProtKB/Swiss-Prot

TF2H5_HUMAN
  • Trichothiodystrophy 3, photosensitive (TTD3) [MIM:616395]: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. {ECO:0000269 PubMed:15220921}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GTF2H5

Genetic Association Database (GAD)
GTF2H5
Human Genome Epidemiology (HuGE) Navigator
GTF2H5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GTF2H5
genes like me logo Genes that share disorders with GTF2H5: view

No data available for Genatlas for GTF2H5 Gene

Publications for GTF2H5 Gene

  1. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A and stabilizes TFIIH. (PMID: 15220921) Giglia-Mari G. … Vermeulen W. (Nat. Genet. 2004) 2 23 67
  2. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. (PMID: 18470933) Boyle J. … Kraemer K.H. (Hum. Mutat. 2008) 23 67
  3. Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells. (PMID: 16669699) Giglia-Mari G. … Vermeulen W. (PLoS Biol. 2006) 23 67
  4. Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. (PMID: 12393803) Botta E. … Stefanini M. (Hum. Mol. Genet. 2002) 23 67
  5. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. (PMID: 11369901) Itin P.H. … Pittelkow M.R. (J. Am. Acad. Dermatol. 2001) 23 67

Products for GTF2H5 Gene

Sources for GTF2H5 Gene

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