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FLASH GENE

Symbol

ERCC3

contributors: mct/pgu - updated : 30-08-2015

HGNC name	excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)
HGNC id	3435

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     highly Lymphoid/Immune thymus       highly Nervous brain       highly Reproductive male system testis     highly Skin/Tegument skin appendages hair follicle   highly Homo sapiens Adult

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument melanocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four domains: an N-terminal domain
	two conserved helicase domains (HD1 and HD2)
	one helicase ATP-binding domain
	one helicase C-terminal domain
	a C-terminal extension

HOMOLOGY

interspecies	homolog to yeast RAD25
	homolog to Drosophila haywire
	homolog to murine Ercc3 (95.9pc)
	homolog to rattus Ercc3 (95.9pc)

intraspecies

homolog to D discoidum REPB

Homologene

FAMILY	helicase family
	RAD25/XPB subfamily

CATEGORY

enzyme , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	ATP dependent 3'-5' DNA helicase (nucleotide excision repair), involved in transcription-coupled repair (TCR) of oxidative lesions
	involved in the accumulation of TFIIH complex to sites of DNA damage
	when complexed to CAK, involved in RNA transcription by RNA pol II
	acting by opening either around the RNA transcription start site or the DNA damage
	with ERCC2, are central genome caretakers involved in nucleotide excision repair (NER), although their respective role within this DNA repair pathway remains difficult to delineate
	role in cell cycle regulation, and may be the structural basis for a long known, but hitherto unexplained interaction between ERCC3 and TUBG1
	ERCC3 and ERCC2 are part of the TFIIH complex which mediates basal transcription and DNA nucleotide excision repair
	DNA-dependent helicase and a subunit of the TFIIH complex required for both transcription and DNA repair

CELLULAR PROCESS	nucleotide, repair, nucleotide excision repair
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

nucleotide-excision repair

a component

component of the basal transcription factor TFIIH, one of the six subunits

INTERACTION

DNA

binding

RNA

small molecule	nucleotide,
	ATP/GTP binding

protein	interacting with PUF60
	interacting with EBNA2
	interacting with the TFIIH p52 subunit and thus stimulating the ATPase activity of ERCC3
	interacting with COPS2 (interacting within a network of proteins involved in transcriptional regulation, DNA repair, and cell cycle including nucleophosmin, TRIP11, as well as CRSP3)
	interacts with the centrosomal protein gamma-tubulin TUBG1
	C1D facilitates ERCC3 DNA repair through direct interaction with ERCC3
	GTF2E2 is essential for transcription initiation by RNA polymerase II (RNA pol II) via direct interaction with the basal transcription/DNA repair factor IIH (ERCC3)
	ERCC3 interacts functionally with KAT2A, a histone acetyltransferase (HAT) that belongs to the hSAGA and hATAC complexes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

XPB , TTDP2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       decreasing GTF2H activity in XPB patients tumoral     --low   in sqamous cell carcinoma of the head and neck constitutional       loss of function associated with non-pigmented hair fiber growth constitutional       loss of function in functional ERCC3 paradoxically renders cells more sensitive to the genotoxic effects of oxidative stress while reducing the cytotoxic effects

Susceptibility

for TTDA (trichothiodystrophy type A)

Variant & Polymorphism	genetic variation of ERCC3 may contribute to benzene-induced haemotoxicity at relatively low levels of benzene exposure

Candidate gene	influences recruitment and redistribution of NER proteins at sites of UV-induced DNA damage and thus may contribute to the markedly increased frequency of skin cancer in XP patients
Marker
Therapy target

ANIMAL & CELL MODELS