Description
| Product Name: | Human GTF2H5 Recombinant Protein |
| Product Code: | RPPB3609 |
| Size: | 20µg |
| Species: | Human |
| Target: | GTF2H5 |
| Synonyms: | General transcription factor IIH subunit 5, bA120J8.2,C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTDA, TFIIH basal transcriptionfactor complex TTD-A subunit, TFB5 ortholog. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered clear solution. |
| Formulation: | GTF2H5 protein solution (1mg/ml) containing Phosphatebuffered saline (pH7.4) and 10% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 95.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSMVNVLKG VLIECDPAMK QFLLYLDESN ALGKKFIIQD IDDTHVFVIAELVNVLQERV GELMDQNAFS LTQK |
General Transcription Factor IIH Polypeptide 5 (GTF2H5) is a subunit of transcription/repair factor TFIIH, which serves in gene transcription and DNA repair. GTF2H5 protein stimulates ERCC3/XPB ATPase activity which triggers DNA opening during DNA repair, and is involved in the regulation of cellular levels of TFIIH. GTF2H5 gene mutations result in trichothiodystrophy, complementation group A.
GTF2H5 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 94 amino acids (1-71 a.a) and having a molecular mass of 10.4kDa.GTF2H5 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | 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.Protein type: DNA-binding; DNA repair, damageChromosomal Location of Human Ortholog: 6q25.3Cellular Component: nucleolusMolecular Function: rDNA bindingBiological Process: regulation of transcription, DNA-dependent; nucleotide-excision repair; RNA elongation from RNA polymerase I promoter; nucleotide-excision repair, preincision complex assembly; rRNA processingDisease: Trichothiodystrophy 3, Photosensitive |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | Q6ZYL4 |
| NCBI GenInfo Identifier: | 67462047 |
| NCBI Gene ID: | 404672 |
| NCBI Accession: | Q6ZYL4.1 |
| UniProt Secondary Accession: | Q6ZYL4,Q0P5V8 |
| UniProt Related Accession: | Q6ZYL4 |
| Molecular Weight: | |
| NCBI Full Name: | General transcription factor IIH subunit 5 |
| NCBI Synonym Full Names: | general transcription factor IIH, polypeptide 5 |
| NCBI Official Symbol: | GTF2H5�� |
| NCBI Official Synonym Symbols: | TTD; TFB5; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2�� |
| NCBI Protein Information: | general transcription factor IIH subunit 5; TFB5 ortholog; TFIIH basal transcription factor complex TTD-A subunit; TFIIH basal transcription factor complex TTDA subunit |
| UniProt Protein Name: | General transcription factor IIH subunit 5 |
| UniProt Synonym Protein Names: | General transcription factor IIH polypeptide 5; TFB5 ortholog; TFIIH basal transcription factor complex TTD-A subunit |
| Protein Family: | General transcription factor |
| UniProt Gene Name: | GTF2H5�� |
| UniProt Entry Name: | TF2H5_HUMAN |
