Recombinant Human TFIIH basal transcription factor complex helicase XPD subunit (ERCC2)

Uniprot Id

P18074

Target Species

Human

Target Name

ERCC2

Target Full Name

General transcription and DNA repair factor IIH helicase subunit XPD

Target Function

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.

Target Involvement

Xeroderma pigmentosum complementation group D (XP-D); Trichothiodystrophy 1, photosensitive (TTD1); Cerebro-oculo-facio-skeletal syndrome 2 (COFS2)

Target Subcellular Location

Nucleus. Cytoplasm, cytoskeleton, spindle.

Target Protein Families

Helicase family, RAD3/XPD subfamily

Target Synonyms

TFIIH 80 kDa subunit; Basic transcription factor 2 80 kDa subunit; BTF2 p80; COFS 2; COFS2; CXPD; DNA excision repair protein ERCC 2; DNA excision repair protein ERCC-2; DNA repair protein complementing XP D cells; DNA repair protein complementing XP-D cells; EM9; ERCC 2; ERCC2; ERCC2_HUMAN; Excision repair 2; Excision repair cross complementing rodent repair deficiency complementation; Excision repair cross complementing rodent repair deficiency; complementation group 2; MAG; MGC102762; MGC126218; MGC126219; OTTHUMP00000045860; OTTHUMP00000045861; OTTHUMP00000045862; OTTHUMP00000045863; TFIIH 80 kDa subunit; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH Basal Transcription Factor Complex Helicase Subunit; TFIIH basal transcription factor complex helicase XPD subunit; TFIIH basal transcription factor complex p80 subunit; TFIIH p80; TTD; Xeroderma pigmentosum complementary group D; Xeroderma pigmentosum group D complementing protein; Xeroderma pigmentosum group D-complementing protein; XPD; XPDC

Target Background

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.