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FLASH GENE

Symbol

RAD51AP1

contributors: mct - updated : 23-03-2015

HGNC name	RAD51 associated protein 1
HGNC id	16956

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	12p13.32      Physical location : 4.647.949 - 4.669.212
Synonym name	RAD51-interacting protein
	nucleic acid-binding protein
Synonym symbol(s)	PIR51

DNA

TYPE	functioning gene
STRUCTURE	21.26 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_001130862 10 - 2269 - 352 - 1997 9396801 NM_006479 9 - 2218 - 335 - 1997 9396801

EXPRESSION

Type

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         Digestive intestine small intestine     lowly   intestine large intestine colon   lowly Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a conserved WVPP motif reminiscent of the FVPP motif in BRCA2
	two DNA binding domai, needed for protein function
	C-terminal portion encompassing AAs 188–335 mediates the interaction with DMC1 and is capable of promoting synaptic complex assembly and d-loop formation in conjunction with the DMC1 presynaptic filament , and extreme C terminus appears to be critical for RAD51 interaction

HOMOLOGY

interspecies

homolog to murine Rab22

Homologene

FAMILY

CATEGORY

DNA associated , RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	helps maintain genomic integrity via RAD51 recombinase enhancement
	required to protect cells from the adverse effects of DNA double-strand break-inducing agents
	RAD51 accessory protein that specifically stimulates joint molecule formation through the combination of structure-specific DNA binding and physical contact with RAD51
	may potentially play a role in cell proliferation as well as DNA repair
	a key accessory factor of RAD51
	also serves an important role in meiotic homologous recombination
	important homologous recombination factor that associates with and stimulates the recombinase activity of RAD51
	potentially, RAD51AP1, with its separate epitopes for binding DMC1 and RAD51, may simultaneously associate with both recombinases to serve as a molecular bridge to bring the two recombinases together in these repair centers
	serves a key role in homologous recombination-mediated chromosome damage repair

CELLULAR PROCESS

nucleotide, repair, recombination

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to single-stranded and double-stranded DNA

RNA

binding

small molecule

protein	interact with and enhance the recombinase activity of RAD51
	functional cooperation is dependent on complex formation between DMC1 and RAD51AP1 and distinct epitopes in RAD51AP1 mediate interactions with RAD51 and DMC1
	physically interacts with PALB2 (PALB2 functionally cooperates with RAD51AP1 to enhance the recombinase function of RAD51)
	physical association of RAD51AP1 with the meiosis-specific recombinase DMC1 having a stimulatory effect of RAD51AP1 on the DMC1-mediated D-loop reaction
	interacts with RAD51 and colocalizes with RAD51 to double strand break sites in cells
	partners with the meiotic recombinase DMC1, displaying isoform-specific interactions with DMC1
	serves as a cofactor of both RAD51 and DMC1
	USP1-WDR48 complex promotes homologous recombination (HR) repair via multiple mechanisms: through FANCD2 deubiquitination, as well as by interacting with RAD51AP1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in the great majority of the intrahepatic cholangiocarcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS