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FLASH GENE

Symbol

PRKDC

contributors: mct/npt - updated : 04-01-2013

HGNC name	protein kinase, DNA-activated, catalytic polypeptide
HGNC id	9413

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	187.07 kb     86 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006904 86 - 13509 NP_008835 - 4128 - Danoy (2008) NM_001081640 85 - 13416 NP_001075109 - 4097 - Danoy (2008)

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 blood / hematopoietic thymus       highly Cardiovascular heart       highly Digestive liver           mouth gingiva     highly Urinary bladder       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

dimer

HOMOLOGY

Homologene

FAMILY	PRK family
	PIK, phosphatidylinositol kinase family
	PI3/PI4-kinase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	DNA dependent serine/threonine protein kinase catalytic subunit, phosphatidylinositol kinase
	involved in DNA double-strand break repair by end joining (non homologous recombination NHEJ) and V(D)J recombination
	central regulator of DNA double-strand break (DSB) repair

CELLULAR PROCESS

nucleotide, repair

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

dimerizing with Ku antigen (see KUP70 (G22P1) and KUP80 (XRCC5) at DNA double strand break ends, recruiting XRCC4-ligase, facilitated by POLM

INTERACTION

DNA

binding

RNA

small molecule

protein	KIP2
	WRN (inhibition of both the helicase and exonuclease activities of WRN)
	interaction between PRKCD and PRKDC participates in apoptosis induced by DNA damage
	interacting with HNRNPU (phosphorylation of HNRNPU by PRKDC suggests novel functions for PRKDC in the response to DNA damage)
	CENPF is associated with the DNA-dependent protein kinase (PRKDC), a trimeric protein complex critical for genome homeostasis
	NR4A1, NR4A2 interact with PRKDC and, upon exposure to DNA damage, translocate to DSB foci by a mechanism requiring the activity of PARP1
	DEAF1 can interact with the PRKDC complex through interactions of its DNA binding domain with the C-terminal region of XRCC6 that contains the BAX binding domain, and is a potential substrate for PRKDC
	NR5A1 restricts centrosome overduplication by inhibiting aberrant activation of DNA-dependent protein kinase (PRKDC) in the centrosome
	has fundamental roles in Classical nonhomologous end joining (C-NHEJ) processes beyond end processing that have been masked by functional overlaps with NHEJ1
	novel regulatory pathway where signaling from PRKDC appears to suppress midbrain-specific LMX1A expression
	DNA-damage-induced Golgi dispersal requires GOLPH3/MYO18A/F-actin and the DNA damage protein kinase, PRKDC

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IMD26

Susceptibility

to radiosensitivity in a patient with xeroderma pigmentosum

Variant & Polymorphism other	splice variant associated with radiosensitivity in a patient with xeroderma pigmentosum (Abbaszadeh 2010)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS