Tchem ERCC2 General transcription and DNA repair factor IIH helicase subunit XPD

Protein Summary

Description

ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers. The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Uniprot Accession IDs

• P18074
• Q2TB78
• Q2YDY2
• Q7KZU6
• Q8N721
• TFIIH subunit XPD

Gene Name

• ERCC2

Ensembl ID

• ENST00000391945
• ENSP00000375809
• ENSG00000104884
• ENST00000485403
• ENSP00000431229

Symbol

• XPD
• XPDC
• EM9
• TTD
• XPD
• TTD1
• COFS2
• TFIIH

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	1
biological process	0.99
biological term	0.99
protein domain	0.99
disease perturbation	0.87

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Helicase / Dna Helicase / General Transcription And Dna Repair Factor Iih Helicase Subunit Xpd

Protein / Nucleic Acid Binding / Dna Binding Protein / Dna Helicase / General Transcription And Dna Repair Factor Iih Helicase Subunit Xpd

DTO Classes

Protein / Enzyme / Helicase / Dna Helicase / Tfiih Basal Transcription Factor Complex Helicase Xpd Subunit

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1195.1   (req: < 5)

Gene RIFs: 502   (req: <= 3)

Antibodies: 250   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1195.1   (req: >= 5)

Gene RIFs: 502   (req: > 3)

Antibodies: 250   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 54

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 10

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0