BARD1 - BRCA1 associated RING domain 1 Gene

Homo sapiens

Gene ID: 580 | Gene type: protein coding

About BARD1

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:214,725,646-214,809,683 (from NCBI)

This gene has 15 transcripts (splice variants), 215 orthologues and is associated with 97 phenotypes. Broad expression in testis (RPKM 4.0), bone marrow (RPKM 3.8) and 24 other tissues.

Summary

This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian Cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

BARD1 Products(5)

mRNA	Protein	Name
NM_000465.4	NP_000456.2	BRCA1-associated RING domain protein 1 isoform 1
NM_001282543.2	NP_001269472.1	BRCA1-associated RING domain protein 1 isoform 2
NM_001282545.2	NP_001269474.1	BRCA1-associated RING domain protein 1 isoform 3
NM_001282548.2	NP_001269477.1	BRCA1-associated RING domain protein 1 isoform 4
NM_001282549.2	NP_001269478.1	BRCA1-associated RING domain protein 1 isoform 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA binding	IDA IDA: Inferred from direct assay	12419249	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8944023	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	15265711	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	15265711	GOA
contributes to ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	12890688	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to ionizing radiation	IMP IMP: Inferred from mutant phenotype	14636569	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	15265711	GOA
involved in negative regulation of protein export from nucleus	IDA IDA: Inferred from direct assay	15265711	GOA
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	15782130	GOA
involved in protein K6-linked ubiquitination	IDA IDA: Inferred from direct assay	12890688	GOA
involved in regulation of phosphorylation	IMP IMP: Inferred from mutant phenotype	15782130	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of BRCA1-A complex	IDA IDA: Inferred from direct assay	17525342	GOA
part of BRCA1-B complex	IPI IPI: Inferred from physical interaction	16391231	GOA
part of BRCA1-BARD1 complex	IDA IDA: Inferred from direct assay	12890688	GOA
part of BRCA1-BARD1 complex	IPI IPI: Inferred from physical interaction	11573085	GOA
part of BRCA1-C complex	IPI IPI: Inferred from physical interaction	16391231	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15265711	GOA
part of nuclear ubiquitin ligase complex	IDA IDA: Inferred from direct assay	14636569	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9342365	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	15632137	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BARD1 Protein Structure

zf-RING_6

Ank_2

Ank

BRCT

0
200
400
600
777 a.a.

Protein Preferred Names

Protein Names

BRCA1-associated RING domain protein 1

BRCA1-associated RING domain gene 1

BARD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	BARD1	Q99728	KRT40	Homo sapiens	Q6A162	Validated Y2H	25416956
Intra	BARD1	Q99728	KRT40	Homo sapiens	Q6A162	Y2H Prey Pooling	25416956
Intra	BARD1	Q99728	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	25416956
Intra	BARD1	Q99728	IKZF1	Homo sapiens	Q13422-7	Y2H Array	32296183
Intra	BARD1	Q99728	IKZF1	Homo sapiens	Q13422-7	Y2H Prey Pooling	32296183
Intra	BARD1	Q99728	MTUS2	Homo sapiens	Q5JR59-3	Y2H Prey Pooling	32296183
Intra	BARD1	Q99728	MTUS2	Homo sapiens	Q5JR59-3	Y2H Array	32296183
Intra	BARD1	Q99728	KIFC3	Homo sapiens	Q9BVG8-5	Y2H Prey Pooling	32296183
Intra	BARD1	Q99728	KIFC3	Homo sapiens	Q9BVG8-5	Validated Y2H	32296183
Intra	BARD1	Q99728	KIFC3	Homo sapiens	Q9BVG8-5	Y2H Array	32296183
Intra	BARD1	Q99728	CSTF1	Homo sapiens	Q05048	Anti Bait CoIP	10477523
Intra	BARD1	Q99728	CSTF1	Homo sapiens	Q05048	Pull Down	10477523
Intra	BARD1	Q99728	BRCA1	Homo sapiens	P38398	NMR	11573085
Intra	BARD1	Q99728	BRCA1	Homo sapiens	P38398	Anti Bait CoIP	8944023
Intra	BARD1	Q99728	BRCA1	Homo sapiens	P38398	Y2H	8944023
Intra	BARD1	Q99728	BRCA1	Homo sapiens	P38398	Anti Bait CoIP	10477523
Intra	BARD1	Q99728	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	32296183
Intra	BARD1	Q99728	TRAF1	Homo sapiens	Q13077	Y2H Array	32296183
Intra	BARD1	Q99728	PARN	Homo sapiens	O95453	Pull Down	20379136
Intra	BARD1	Q99728	PARN	Homo sapiens	O95453	Anti Tag CoIP	20379136
Intra	BARD1	Q99728	AXIN2	Homo sapiens	Q9Y2T1	Y2H Prey Pooling	32296183
Intra	BARD1	Q99728	AXIN2	Homo sapiens	Q9Y2T1	Validated Y2H	32296183
Intra	BARD1	Q99728	AXIN2	Homo sapiens	Q9Y2T1	Y2H Array	32296183
Intra	BARD1	Q99728	RABEP1	Homo sapiens	Q15276	Y2H Prey Pooling	32296183
Intra	BARD1	Q99728	RABEP1	Homo sapiens	Q15276	Y2H Array	32296183
Intra	BARD1	Q99728	GIT1	Homo sapiens	Q9Y2X7	Pull Down	15383276
Intra	BARD1	Q99728	GIT1	Homo sapiens	Q9Y2X7	Y2H	15383276
Intra	BARD1	Q99728	CEP126	Homo sapiens	Q9P2H0	Pull Down	15383276
Intra	BARD1	Q99728	CEP126	Homo sapiens	Q9P2H0	Y2H	15383276
Intra	BARD1	Q99728	KAT7	Homo sapiens	O95251	Y2H	15383276
Intra	BARD1	Q99728	KAT7	Homo sapiens	O95251	Pull Down	15383276
Intra	BARD1	Q99728	TCERG1	Homo sapiens	O14776	Y2H	15383276
Intra	BARD1	Q99728	TCERG1	Homo sapiens	O14776	Pull Down	15383276
Intra	BARD1	Q99728	CHD3	Homo sapiens	Q12873	Pull Down	15383276
Intra	BARD1	Q99728	CHD3	Homo sapiens	Q12873	Y2H	15383276
Intra	BARD1	Q99728	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	32296183
Intra	BARD1	Q99728	GOLGA2	Homo sapiens	Q08379	Y2H Array	25416956
Intra	BARD1	Q99728	GOLGA2	Homo sapiens	Q08379	Y2H Array	32296183
Intra	BARD1	Q99728	ZNF655	Homo sapiens	Q8N720	Y2H Prey Pooling	32296183
Intra	BARD1	Q99728	ZNF655	Homo sapiens	Q8N720	Y2H Array	32296183
Intra	BARD1	Q99728	CSTF2	Homo sapiens	P33240	Anti Bait CoIP	10477523
Intra	BARD1	Q99728	CSTF2	Homo sapiens	P33240	Anti Tag CoIP	20379136
Intra	BARD1	Q99728	CSTF2	Homo sapiens	P33240	GMS	10477523
Intra	BARD1	Q99728	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	BARD1	Q99728	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	BARD1	Q99728	CEP70	Homo sapiens	Q8NHQ1	Y2H Prey Pooling	25416956
Intra	BARD1	Q99728	LDOC1	Homo sapiens	O95751	Y2H Array	32296183
Intra	BARD1	Q99728	LDOC1	Homo sapiens	O95751	Y2H Prey Pooling	32296183
Intra	BARD1	Q99728	LDOC1	Homo sapiens	O95751	Y2H Array	31515488
Intra	BARD1	Q99728	LDOC1	Homo sapiens	O95751	Validated Y2H	25416956
Intra	BARD1	Q99728	EXOC5	Homo sapiens	O00471	Y2H Array	25416956
Intra	BARD1	Q99728	EXOC5	Homo sapiens	O00471	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome	Common Syndrome
Bap1 Cancer Syndrome	Bap1-Tpds
Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms	Tumor Predisposition Syndrome
Tumor Susceptibility Linked To Germline Bap1 Mutations	Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
Tumor Predisposition

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Hepatoblastoma

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Fallopian Tube Carcinoma

Fallopian Tube Cancer	Cancer Of The Fallopian Tube
Carcinoma Of Fallopian Tube	Neoplasm Of Fallopian Tube
Fallopian Tube Neoplasms	Fallopian Tube Ca
Fallopian Tube Neoplasm	Malignant Neoplasm Of Uterine Tube
Malignant Tumor Of Fallopian Tube	Malignant Tumour Of Fallopian Tube
Tumor Of The Fallopian Tube	Tumor, Fallopian Tube, Malignant
Malignant Tumor Of Fallopian Tubes	Cancer Of Fallopian Tubes
Malignant Tubal Tumor	Tubal Cancer
Malignant Neoplasm Of Fallopian Tube	Primary Malignant Neoplasm Of Fallopian Tube
Cancer Of The Oviduct

Plasma Cell Neoplasm

Plasma Cell Dyscrasia	Paraproteinemias
Plasma Cell Tumour	Plasmacytic Tumor
Multiple Myeloma	Plasmacytoma
Plasma Cell Tumours	Plasma Cells Dyscrasia

Myeloma, Multiple

Multiple Myeloma	Plasma Cell Myeloma
Kahler Disease	Myelomatosis
Medullary Plasmacytoma	Multiple Myeloma, Resistance To
Myeloma	Plasma Cell Dyscrasia
Kahler'S Disease	Multiple Myeloma, Susceptibility To
Myeloma - Multiple	Kahler-Bozzolo Disease
Plasma Cell Myelomas	MM
Plasma Cell Neoplasm	Primary Systemic Amyloidosis
Primary Amyloidosis	Immunoglobulin Deposition Disease
Plasmacytic Myeloma	Multiple Myelomata
Multiple Myeloma Nos	Multiple Myeloma Without Mention Of Remission
Monostotic Plasma Cell Myeloma	Mm - [Multiple Myeloma]

Sporadic Breast Cancer

Sporadic Breast Carcinoma

Bilateral Breast Cancer

Bilateral Breast Carcinoma

Diffuse Gastric And Lobular Breast Cancer Syndrome

Hereditary Diffuse Gastric Cancer	HDGC
LBC	Familial Diffuse Gastric Cancer
Fdgc	Hereditary Diffuse Gastric Adenocarcinoma
Breast Cancer, Lobular	Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate
DGLBC	Gastric Cancer, Hereditary Diffuse
Gastric Cancer, Familial Diffuse Breast Cancer, Lobular	Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate
E-Cadherin-Associated Hereditary Gastric Cancer	Familial Diffuse Cancer Of Stomach
Hereditary Diffuse Cancer Of Stomach	Gastric Cancer Familial Diffuse
Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate	Cancer, Gastric, Hereditary Diffuse

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome	Pten Hamartoma Tumor Syndrome
Lhermitte-Duclos Disease	Bannayan-Zonana Syndrome
Phts	Riley-Smith Syndrome
Bzs	Ruvalcaba-Myhre-Smith Syndrome
Multiple Hamartoma Syndrome	Rmss
Brrs	Dysplastic Gangliocytoma Of The Cerebellum
CWS1	Cs
Cd	Mham
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor	Macrocephaly Multiple Lipomas And Hemangiomata
Bannayan-Ruvalcaba-Riley Syndrome	Myhre-Riley-Smith Syndrome
LDD	Cerebelloparenchymal Disorder Vi
Hamartoma Syndrome, Multiple	Bbrs
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata	Macrocephaly, Multiple Lipomas, And Hemangiomata
Macrocephaly Pseudopapilledema And Multiple Hemangiomas	Ruvalcaba -Myhre-Smith Syndrome
Ruvalcaba-Myhre Syndrome	Cowden Disease
Macrocephaly Pseudopapilledema And Multiple Hemangiomata	Cerebellar Granule Cell Hypertrophy And Megalencephaly
Cpd6	Pten Hamartoma Tumor Syndromes
Cowden Syndrome, Type 1

Peritoneum Cancer

Peritoneal Neoplasm	Cancer Of Peritoneum
Malignant Tumor Of Peritoneum	Peritoneal Neoplasms

Diffuse Gastric Cancer

Hereditary Diffuse Gastric Adenocarcinoma	Hereditary Diffuse Gastric Cancer
Signet Cell Adenocarcinoma	Signet Ring Cell Carcinoma
Signet Ring Cell Gastric Carcinoma	Signet Ring Gastric Carcinoma
Fdgc	Familial Diffuse Cancer Of Stomach
Familial Diffuse Gastric Cancer	Gastric Cancer, Familial Diffuse
Gastric Cancer, Hereditary Diffuse	Hdgc
Hereditary Diffuse Cancer Of Stomach	Diffuse Gastric Cancer Syndrome
Cancer, Gastric, Diffuse	Carcinoma, Signet Ring Cell
Gastric Signet Ring Carcinoma

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni	Sbla Syndrome
LFS	Li-Fraumeni Familiar Cancer Susceptibility Syndrome
Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome	Lfs1
Li Fraumeni Syndrome	Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome
Lfl	Sbla Syndrome Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome 1

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

Cowden Syndrome

Cowden Disease	Multiple Hamartoma Syndrome
Cowden'S Disease	Lhermitte-Duclos Disease
Cd	Cs
Mham	Dysplastic Gangliocytoma Of Cerebellum
Cowden'S Syndrome	Hamartoma Syndrome, Multiple

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01365	BARD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BARD1	VGNC	VGNC:49949
Mus musculus	BARD1	MGD	MGI:1328361
Bos taurus	BARD1	VGNC	VGNC:26420
Macaca mulatta	BARD1	VGNC	VGNC:70226
Rattus norvegicus	BARD1	RGD	RGD:621072
Felis catus	BARD1	VGNC	VGNC:69102

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