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FLASH GENE

Symbol

BARD1

contributors: mct - updated : 01-02-2013

HGNC name	BRCA1 associated RING domain 1
HGNC id	952

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 3 - - 4400 isoform 3 - 752 - 1996 8944023 NM_000465 11 - 2610 NP_000456 - 777 breast and ovarian cancer cell lines 2007 17497650 variant 1 - - - isoform 1 - - - 2007 17497650 also called BARD1delta variant 2 - - - isoform 2 - - - 2007 17497650 also called deltaRIN

EXPRESSION

Type

widely

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 mouth       highly Lymphoid/Immune lymph node       highly Nervous nerve cranial nerve     highly

cell lineage
cell lines	breast and ovarian cancer cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one RING zinc finger domain at the N terminus
	three tandem ankyrin repeats
	a C terminal domain of homology with BRCA1 (BRCT)
	two BRCT domains at the C terminus
	a nuclear localization signal and a nuclear export signal
	ankyrin and BRCT motifs are each essential for both chromosome stability and homology-directed repair

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies

homolog to murine Bard1

Homologene

FAMILY

CATEGORY

transcription factor , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus
text	increased cytoplasmic localization associated with apoptosis

basic FUNCTION	potentially involved in DNA repair and tumor suppression, mediator of apoptosis
	inducing with BRCA1 the formation of conjugated ubiquitin structures in cells during DNA replication and repair
	required for S phase progression, contact inhibition and normal nuclear division
	playing a dual role in response to genotoxic stress: DNA repair as a BARD1-BRCA1 heterodimer and induction of apoptosis in a BRCA1-independent manner
	acting in conjunction with BRCA1 as ubiquitin ligase

CELLULAR PROCESS	cell life, proliferation/growth
	cell life, cell death/apoptosis
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	heterodimer with BRCA1 complexing with the RNA polymerase II holoenzyme, containing a ubiquitin ligase activity important for prevention of breast and ovarian cancer
	BRCA1/BARD1 heterodimer functioning as an E3 ubiquitin ligase that catalyzes the synthesis of polyubiquitin chains
	required for S phase progression, contact inhibition and normal nuclear division
	BRCA1/BARD1 may promote genome stability and tumor suppression through its involvement in other cellular processes, such as mitotic spindle assembly and cell cycle checkpoint control

INTERACTION

DNA

RNA

small molecule

protein	CSTF1 and repressing nuclear mRNA polyadenylation (linking mRNA 3' end formation to DNA damage and tumor suppression)
	RNA polymerase II holoenzyme
	BRCA1 for mediating of protein ubiquitination
	interaction with TP53( TP53 dependent role in apoptosis)
	UBXN1 associates with autoubiquitinated BRCA1/BARD1 heterodimers in a bipartite manner (interaction between NR5A1 and BRCA1/BARD1 may recruit BRCA1/BARD1 complex to the aromatase PII promoter for BRCA1/BARD1-mediate transcriptional repression)
	BRCA1/BARD1 complex interacts with NR5A1
	BRCA1 functions depend on the interaction with BARD1 for its stability, nuclear localization and ubiquitin ligase activity
	BRCA1 heterodimerizes with its partner protein, BARD1, via the RING domain present in both proteins

cell & other

REGULATION

Other

inducing BRCA1 intranuclear foci formation

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral germinal mutation       in breast and breast-ovarian cancers tumoral   deletion     homozygous deletion, in basal breast cancer tumoral germinal mutation     loss of function in patients with primary ovarian, fallopian tube, or peritoneal cancers

Susceptibility

to breast cancer to neuroblastoma

Variant & Polymorphism SNP , other	Val/Met 507 increasing the risk of breast cancer
	Cys557Ser confers a slightly increased risk of breast cancer in women
	rs6435862, rs3768716 significantly associated with high-risk neuroblastoma

Candidate gene	identification of BARD1 deletion could have clinical applications including screening for hereditary forms of breast cancer
Marker
Therapy target

ANIMAL & CELL MODELS