Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
HomeAbout PhosphoSiteUsing PhosphoSiteCuration ProcessContact
NIH-logos NIGMS Logo NIAAA Logo NCI Logo NIH Logo
Protein Page:
GTF2H5 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitylation
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

GTF2H5 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. Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP). TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. Belongs to the TFB5 family. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; DNA repair, damage
Chromosomal Location of Human Ortholog: 6q25.3
Cellular Component: nucleoplasm; nucleolus
Molecular Function: rDNA binding
Biological Process: transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; viral reproduction; positive regulation of viral transcription; transcription from RNA polymerase I promoter; RNA elongation from RNA polymerase I promoter; DNA repair; termination of RNA polymerase I transcription; regulation of gene expression, epigenetic; nucleotide-excision repair, preincision complex assembly; mRNA capping; regulation of transcription, DNA-dependent; negative regulation of gene expression, epigenetic; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; RNA elongation from RNA polymerase II promoter; nucleotide-excision repair, DNA damage removal; gene expression; transcription initiation from RNA polymerase I promoter; rRNA processing
Disease: Trichothiodystrophy 3, Photosensitive
Reference #:  Q6ZYL4 (UniProtKB)
Alt. Names/Synonyms: bA120J8.2; C6orf175; General transcription factor IIH polypeptide 5; General transcription factor IIH subunit 5; general transcription factor IIH, polypeptide 5; GTF2H5; TF2H5; TFB5; TFB5 ortholog; TFIIH basal transcription factor complex TTD-A subunit; TFIIH basal transcription factor complex TTDA subunit; TGF2H5; TTD; TTD-A; TTDA
Gene Symbols: GTF2H5
Molecular weight: 8,053 Da
Basal Isoelectric point: 4.5  Predict pI for various phosphorylation states
CST Pathways:  Protein Acetylation
Select Structure to View Below


Protein Structure Not Found.

STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Scansite  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend

Show Multiple Sequence Alignment


LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


0 1 T69-p DQNAFSLtQK_____

Home  |  Curator Login With enhanced literature mining using Linguamatics I2E I2E Logo Produced by 3rd Millennium  |  Design by Digizyme
©2003-2013 Cell Signaling Technology, Inc.