ERCC2
Encyclopedia
ERCC2, or XPD is a protein involved in transcription-coupled
nucleotide excision repair
.
The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein is a 760 amino acids polypeptide with a size of 87kDa. Defects in this gene can result in three different disorders: the cancer-prone syndrome xeroderma pigmentosum
complementation group D, trichothiodystrophy, and Cockayne syndrome
.
Just like XPB
, XPD is also a part of human transcriptional initiation factor
TFIIH and has ATP-dependent helicase
activity. It belongs to the RAD3/XPD subfamily of helicases.
XPD is essential for the viability of cells. Deletion of XPD in mice is embryonic lethal.
with GTF2H2
, GTF2H1
, ERCC5
and XPB
.
Transcription-coupled repair
Transcription-coupled repair is a DNA repair mechanism which operates in tandem with transcription. The activity of TCR has been known for 20 years, but its mechanism of action is an area of current research...
nucleotide excision repair
Nucleotide excision repair
Nucleotide excision repair is a DNA repair mechanism. DNA constantly requires repair due to damage that can occur to bases from a vast variety of sources including chemicals, radiation and other mutagens...
.
The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein is a 760 amino acids polypeptide with a size of 87kDa. Defects in this gene can result in three different disorders: the cancer-prone syndrome xeroderma pigmentosum
Xeroderma pigmentosum
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. Multiple basal cell carcinomas and other skin...
complementation group D, trichothiodystrophy, and Cockayne syndrome
Cockayne syndrome
Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
.
Just like XPB
XPB
XPB is an ATP dependent human DNA helicase that is a part of the TFIIH transcription factor complex.-Structure:The 3D structure of the archeael homologue of XPB has been solved by X-ray crystallography by Dr...
, XPD is also a part of human transcriptional initiation factor
Initiation factor
Initiation factors are proteins that bind to the small subunit of the ribosome during the initiation of translation, a part of protein biosynthesis.They are divided into three major groups:*Prokaryotic initiation factors*Archaeal initiation factors...
TFIIH and has ATP-dependent helicase
Helicase
Helicases are a class of enzymes vital to all living organisms. They are motor proteins that move directionally along a nucleic acid phosphodiester backbone, separating two annealed nucleic acid strands using energy derived from ATP hydrolysis.-Function:Many cellular processes Helicases are a...
activity. It belongs to the RAD3/XPD subfamily of helicases.
XPD is essential for the viability of cells. Deletion of XPD in mice is embryonic lethal.
Interactions
ERCC2 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with GTF2H2
GTF2H2
General transcription factor IIH subunit 2 is a protein that in humans is encoded by the GTF2H2 gene.-Interactions:GTF2H2 has been shown to interact with GTF2H5, XPB and ERCC2.-Further reading:...
, GTF2H1
GTF2H1
General transcription factor IIH subunit 1 is a protein that in humans is encoded by the GTF2H1 gene.-Interactions:GTF2H1 has been shown to interact with E2F1, XPB, ERCC2, Estrogen receptor alpha, Cyclin-dependent kinase 7 and TCEA1....
, ERCC5
ERCC5
DNA repair protein complementing XP-G cells is a protein that in humans is encoded by the ERCC5 gene.-External links:* -Further reading:...
and XPB
XPB
XPB is an ATP dependent human DNA helicase that is a part of the TFIIH transcription factor complex.-Structure:The 3D structure of the archeael homologue of XPB has been solved by X-ray crystallography by Dr...
.