BARD1 - BRCA1 associated RING domain 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 580

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01365	BARD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174563	Human OLA1 mRNA		/	Unkown
HY-RS20367	Bard1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26877	Bard1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	BARD1	NCBI