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FLASH GENE

Symbol

HJURP

contributors: mct/pgu - updated : 26-06-2012

HGNC name	holliday junction recognition protein
HGNC id	25444

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q37.1      Physical location : 234.745.486 - 234.763.212
Synonym name	fetal liver expressing gene 1
	up-regulated in lung cancer 9
	fourteen-three-three associated AKT Substrate
Synonym symbol(s)	FAKTS, URLC9, hFLEG1, DKFZp762E1312

DNA

TYPE	functioning gene
STRUCTURE	17.73 kb     9 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018410 9 - 3065 NP_060880 83.41 748 - 2007 17823411

EXPRESSION

Type	restricted

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 Lymphoid/Immune thymus         Homo sapiens

cell lineage
cell lines	cancer cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a TLTY box required for the interaction of HJURP with CENPA
	C-terminal beta-sheet domain of HJURP caps the DNA-binding region of the histone heterodimer, preventing it from spontaneous association with DNA

HOMOLOGY

Homologene

FAMILY

CATEGORY

chaperone/stress , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome,centromere
	intracellular,nucleus,nucleolus
text	found at centromeres for two to three hours after anaphase onset7 and may serve, directly or indirectly, as a CENPA chaperone during chromatin assembly

basic FUNCTION	involved in the homologous recombination pathway in the DSB repair process through interaction with MSH5 and NBS1, which is a part of the MRN protein complex
	key factor for CENPA deposition and maintenance at centromeres
	CENPA chaperone, required for cell cycle specific targeting of CENPA to centromeres
	key chaperone responsible for the targeting and deposition of newly synthesized CENP-A at centromeres
	CENPA nucleosome assembly activity of HJURP is responsible for centromeric chromatin assembly to maintain the epigenetic mark
	its stringent regulation is critical for genome stability

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	possible downstream target for ataxia telangiectasia mutated signaling
	14-3-3 binding protein
	CENPA-binding protein , CENPA histone chaperone
	binds a CENPA-H4 heterodimer
	WDHD1 interacts with both CENPA and HJURP in a prenucleosomal complex, and the association of WDHD1 with CENPA is increased during the cell cycle transition from mitosis to G1 phase
	CENPA is a HJURP-interacting partner required for HJURP localization at centromeres
	HJURP interacts with prenucleosomal CENPA and is required for the centromeric assembly of new CENPA in a process after centromere priming
	CENPA pre-nucleosomal complex achieves assembly of the octameric CENPA nucleosome through the dimerization of the CENPA chaperone HJURP

cell & other

REGULATION

Other

centromeric localization is cell cycle regulated

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in a majority of lung cancers and associated with poor prognosis as well constitutional     --over   led to mitotic defects in human cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS