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FLASH GENE

Symbol

XRCC5

contributors: mct - updated : 02-05-2014

HGNC name	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)
HGNC id	12833

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q35      Physical location : 216.974.019 - 217.071.014
Synonym name	ATP dependent DNA helicase 2
	repair X-ray defect, complementing defect in CHO cells 5, KU autoantigen
	86 kDa subunit of Ku antigen
Synonym symbol(s)	KUB2, KUP80, KU80, KU86, NFIV, KARP1, KARP-1

DNA

TYPE	functioning gene
STRUCTURE	96.99 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	promoter region contains several copies of Sp1 recognition cis regulatory elements (Ku promoter binding element)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	an alternative truncated form (68kb)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021141 21 - 3448 80 732 - 2000 11000272 KU80m - - - 68 - mitochondrial 2000 11000272 C-terminally truncated form of Ku80 localized in mammalian mitochondria where it functions in a DNA end-binding activity

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 Digestive liver       highly   pharynx       highly Skin/Tegument skin       highly Urinary bladder       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	WW factor type A domain
	EEXXXDDL motif required for the interaction with catalytic subunit PRKDC and its recruitment to sites of DNA damage
	C-terminal domain and C493 of XRCC5 play at most a minor role in the redox regulation of Ku, and other cysteines are likely involved, either alone or in conjunction with these regions of XRCC5 ,
	and nuclear localization signal (NLS) localized in the C-terminal region

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to Xenopus KU80

Homologene

FAMILY

CATEGORY

DNA associated , antigen

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,nucleus,nucleoplasm
text	localizes within the nucleus in NLS-dependent and NLS-independent manner and forms a heterodimer with XRCC6, and stabilizes XRCC6

basic FUNCTION	involved in DNA double-strand break repair by end joining (non homologous recombination NHEJ) and V(D)J recombination and in telomere homeostasis
	involved in embryonic neurogenesis
	facilitates DNA repair and therefore should suppress cancer
	facilitates tumor growth most likely by dampening baseline cellular DNA damage responses
	XRCC5-JUN activates JUN expression by binding to the GAGCCTC element in the JUN promoter and XRCC6 may also serve a role
	ATP-dependent DNA helicase, which is a potential chronic obstructive pulmonary disease susceptibility gene (
	appears to be essential for human but not rodent cell survival
	may have a novel role in DSB response
	may function as an oncogene in the development of cancers

CELLULAR PROCESS

nucleotide, repair, recombination

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component	dimerizing with KUP70 (G22P1) to form an ATP dependent DNA unwinding enzyme (helicase II) and the regulatory component of a DNA dependent protein kinase (PRKDC)
	binding to DNA double strand break ends and recruiting XRCC4-LIG4, facilitated by POLM
	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	G22P (KUP70)
	with XRCC6, are FXR associated factors (function as corepressors for FXR)
	WRN, Ku heterodimer, stimulating exonuclear activity and facilitating digestion of damaged DNA
	interacting with COIL
	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
	NEK1 may facilitate S-phase progression by interacting with XRCC5 and regulating chromatin loading of replication factors
	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

by FGF2 in osteoblasts

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to myeloma for some htSNPs to cancer

Variant & Polymorphism SNP	increasing the risk of multiple myeloma
	3R allele compared to 0R allele may have protected role against development of cancer

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS