Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

XRCC6

contributors: mct/pgu - updated : 02-07-2015

HGNC name	X-ray repair complementing defective repair in Chinese hamster cells 6 (Ku autoantigen, 70kDa)
HGNC id	4055

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

constitutive of

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 Digestive intestine small intestine     highly Reproductive male system testis     highly Skin/Tegument skin       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a SAP domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to Xenopus KU70

Homologene

FAMILY	ATP-dependent DNA helicase family
	ku70 family

CATEGORY

enzyme , antigen

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus

basic FUNCTION	involved in DNA double-strand break repair by non homologous end joining and V(D)J recombination
	XRCC5-JUN activates JUN expression by binding to the GAGCCTC element in the JUN promoter and XRCC6 may also serve a role
	is a novel DNA sensor inducing the IFNL1 activation
	play an essential role in the DNA double-strand break (DSB) repair pathway, i.e., nonhomologous DNA-end-joining (NHEJ)

CELLULAR PROCESS	nucleotide, repair, recombination
	nucleotide, genomic integrity

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	dimerizing with KUP80 (XRCC5) to form an ATP dependent DNA unwinding enzyme (helicase II) and the regulatory component of a DNA dependentprotein kinase (PRKDC)
	binding to DNA double strand break ends and recruiting XRCC4-LIG4
	XRCC6/XRCC5 heterodimer is located at telomeres but its precise function in telomere maintenance is not known, but potentially enhances TERF2 chromatin association and non-chromatin bound TERF2 is targeted to the proteasome
	XRCC5 works as a heterodimer with XRCC6

INTERACTION

DNA

binding

RNA

small molecule

protein	binding XRCC5 (KUP80) stimulating WRN exonuclease activity and facilitating digestion of damaged DNA
	70 kDa subunit binds to the osteoblast-specific
	transcription factors MSX2, RUNX2 and DLX5
	interacting with DCLRE1C and the DNA-dependent protein kinase catalytic subunit at DNA ends
	interacting with SIRT3 (stress-responsive deacetylase in cardiomyocytes that protects cells from stress-mediated cell death by deacetylation of XRCC6)
	with XRCC6, are FXR associated factors (function as corepressors for FXR)
	interacting with COIL
	interacts directly with BAZ1A and is required for the accumulation of XRCC proteins at DNA double-strand breaks
	strong interaction of TOP2B with XRCC6 as well as PARP1 suggesting that TOP2B is associated both in XRCC6 and PARP-dependent pathways in DSBs repair in primary neurons
	interaction between CFLAR and the DNA repair protein XRCC6 that regulates CFLAR protein stability by inhibiting its polyubiquitination
	interaction of DEAF1 with XRCC6 and XRCC5
	interaction of RECQL with XRCC5/XRCC6 and role of the human RecQ helicase in double-strand break repair through nonhomologous end-joining
	KDM5B is required for efficient DSB repair and for the recruitment of XRCC6 and BRCA1, the essential component of nonhomologous end-joining and homologous recombination, respectively
	interaction between TERT and PTTG1 by association of XRCC6 might be important for the enhancement of the limited self-renewal activity of MSCs and for understanding the regulatory mechanisms of self-renewal
	DDB2 is critical for chromatin association of XRCC5/XRCC6 in the absence of DNA damage and provide evidence that XRCC5/XRCC6 are functional partners of DDB2 in its transcriptional stimulatory activity

cell & other

REGULATION

induced by

FGF2 in osteoblasts

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to scleroderma-polymyositis syndrome

Variant & Polymorphism

Candidate gene
Marker
Therapy target	XRCC6 is a regulator of Bax-mediated pathogenesis and a therapeutic target in laminin-alpha2-deficiency (MDC1A)

ANIMAL & CELL MODELS