Literature summary for 5.6.2.3 extracted from

Vashisht, A.A.; Yu, C.C.; Sharma, T.; Ro, K.; Wohlschlegel, J.A.
The association of the Xeroderma pigmentosum group D DNA helicase (XPD) with transcription factor IIH is regulated by the cytosolic iron-sulfur cluster assembly pathway (2015), J. Biol. Chem., 290, 14218-14225 .

Search for more literature for 5.6.2.3

Cloned(Commentary)

Cloned (Comment)	Organism
recombinant expression of HA3-FLAG3-tagged wild-type and mutant enzymes in HEK-293 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
C190S	site-directed mutagenesis	Homo sapiens
additional information	generation of truncated enzyme forms, e.g. mutant DELTA277-286	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
cytoplasm	-	Homo sapiens	5737	-
additional information	the CIA targeting complex is present almost exclusively in the cytoplasmic fraction, whereas XPD is distributed between both cytoplasmic and nuclear fractions. TFIIH components XPB and cyclin H are both enriched in the nuclear fraction, consistent with their essential functions in nuclear processes, although a pool of cytoplasmic cyclin H is also detectable	Homo sapiens	-	-
nucleus	-	Homo sapiens	5634	-

Metals/Ions

Metals/Ions	Comment	Organism	Structure
Mg2+	required	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + H2O	Homo sapiens	-	ADP + phosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P18074	-	-

Purification (Commentary)

Purification (Comment)	Organism
recombinant HA3-FLAG3-tagged wild-type and mutant enzymes from HEK-293 cells by affinity chromatography. XPD copurifies with known TFIIH subunits (XPB, cyclin H, CDK7, and GTF2H1) as well as with the CIA targeting complex (MMS19, CIAO1, and FAM96B)	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	derived from healthy domors and xeroderma pigmentosum patients	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + H2O	-	Homo sapiens	ADP + phosphate	-	?

Synonyms

Synonyms	Comment	Organism
xeroderma pigmentosum group D DNA helicase	-	Homo sapiens
XPD	-	Homo sapiens
XPD helicase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	fibroblasts derived from xeroderma pigmentosum patients harboring mutations in XPD display increased sensitivity to UV-induced DNA damage due to defects in the NER pathway and this mutant phenotype can be rescued by expression of wild-type XPD. The XPD-DELTA277-286 mutant that is defective in MMS19 binding is able to complement the UV sensitivity phenotype of XPD-deficient fibroblasts. Although the expression of wild-type XPD is able to rescue the UV sensitivity defects seen in these cells, the expression of the XPD-DELTA277-286 mutant does not rescue the phenotype, suggesting that this mutant is incapable of fully supporting NER. Identification of a docking site in XPD that is required for recognition by the CIA targeting complex, which may have important implications for recognition of Fe-S proteins by the CIA targeting complex	Homo sapiens
metabolism	the association of the xeroderma pigmentosum group D DNA helicase (XPD) with transcription factor IIH is regulated by the cytosolic iron-sulfur cluster assembly pathway, assembly of an Fe-S cluster on XPD requires the CIA targeting complex	Homo sapiens
additional information	enzyme XPD is present in two mutually exclusive protein complexes, i.e. with TFIIH complex subunits (XPB, cyclin H, CDK7, and GTF2H1) as well as with the CIA targeting complex (MMS19, CIAO1, and FAM96B), proteomic analysis, overview. XPD assembly into TFIIH requires sufficient cellular iron and the ability to bind an Fe-S cluster cofactor. Physical association of XPD with MMS19 is required for both its incorporation into TFIIH and DNA repair	Homo sapiens

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Release 2023.1 (January 2023)