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FLASH GENE

Symbol

ERCC8

contributors: mct - updated : 01-09-2015

HGNC name	excision repair cross-complementing rodent repair deficiency, complementation group 8
HGNC id	3439

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000082 12 - 2044 NP_000073 43 396 - Bethke(2008) NM_001007233 13 - 2252 NP_001007234 37 338 - - having an additional exon in the 5' region and using a downstream AUG start codon, as compared to variant 1 NM_001007234 6 - 908 NP_001007235 23 205 - - lacking several 3' exons and having an alternate 3' end, as compared to variant 1 the encoded isoform 3 has a shorter and distinct C-terminus, as compared to isoform 1 NM_001290285 11 - 1964 NP_001277214 - 243 - -

EXPRESSION

Type

widely

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 pancreas         Hearing/Equilibrium ear         Lymphoid/Immune thymus       highly Nervous brain diencephalon epithalamus pineal gland   Respiratory lung           respiratory tract larynx       Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

seven WD40 repeat motifs and beta-propeller architecture

HOMOLOGY

interspecies

homolog to murine Ercc8

Homologene

FAMILY

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
text	rapidly translocated to the nuclear matrix after UV irradiation

basic FUNCTION	involved in RNA polymerase II transcription and in transcription-coupled repair
	ERCC6, ERCC8 are the key elements of a regulatory mechanism that equilibrate beneficial and detrimental effects of TP53 activity upon cellular stress
	ERCC6, ERCC8, in addition to their established role in transcription-coupled nucleotide excision repair, can modulate the base excision repair (BER) of oxidized DNA bases both directly (by interaction with BER proteins) and indirectly (by modulating the expression of the DNA repair genes)
	role of ERCC6 and ERCC8 protein in the oxidative stress response
	role of ERCC8 in transcription-coupled nucleotide excision repair
	DNA repair factor of the transcription-coupled branch of nucleotide excision repair

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

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

nucleotide excision repair (NER) pathway

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with CSB (ERCC6) protein and a subunit of (p44) TFIIH factor
	interacting with XAB2
	UVSSA is an evolutionarily conserved protein that participates in Transcription-coupled repair (TCR)through its interaction with ERCC8 and the TFIIH complex

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CKN1

Susceptibility

to meningioma

Variant & Polymorphism SNP	increasing the risk of meningioma

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS