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BRCA1

Summary: This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
BRCA1, DNA repair associated	MIM:113705	Ensembl:ENSG00000012048	HGNC:HGNC:1100	PA25411	17q21.31

Gene Categories:

CLINICALLY ACTIONABLE DNA REPAIR TUMOR SUPPRESSOR HISTONE MODIFICATION DRUGGABLE GENOME

GO terms in BRCA1

Term Type	Evidence Type	GO Term ID	GO Des.
MF	TAS	GO:0003677	DNA binding
MF	IEA	GO:0003684	damaged DNA binding
MF	IMP	GO:0003713	transcription coactivator activity
MF	NAS	GO:0003713	transcription coactivator activity
MF	IDA	GO:0003723	RNA binding
MF	IBA	GO:0004842	ubiquitin-protein transferase activity
MF	IDA	GO:0004842	ubiquitin-protein transferase activity
MF	IPI	GO:0005515	protein binding
MF	IEA	GO:0008270	zinc ion binding
MF	NAS	GO:0015631	tubulin binding
MF	IPI	GO:0019899	enzyme binding
MF	IPI	GO:0031625	ubiquitin protein ligase binding
MF	IDA	GO:0044212	transcription regulatory region DNA binding
MF	NAS	GO:0050681	androgen receptor binding
MF	IDA	GO:0070063	RNA polymerase binding
CC	NAS	GO:0000151	ubiquitin ligase complex
CC	IDA	GO:0000800	lateral element
CC	IDA	GO:0005634	nucleus
CC	TAS	GO:0005654	nucleoplasm
CC	ISS	GO:0005694	chromosome
CC	IDA	GO:0005737	cytoplasm
CC	IBA	GO:0005886	plasma membrane
CC	IDA	GO:0005886	plasma membrane
CC	NAS	GO:0008274	gamma-tubulin ring complex
CC	IBA	GO:0031436	BRCA1-BARD1 complex
CC	IDA	GO:0031436	BRCA1-BARD1 complex
CC	IDA	GO:0032991	protein-containing complex
CC	IBA	GO:0070531	BRCA1-A complex
CC	IDA	GO:0070531	BRCA1-A complex
CC	IDA	GO:1990904	ribonucleoprotein complex
BP	IBA	GO:0000724	double-strand break repair via homologous recombination
BP	IDA	GO:0000724	double-strand break repair via homologous recombination
BP	TAS	GO:0000729	DNA double-strand break processing
BP	TAS	GO:0006260	DNA replication
BP	IDA	GO:0006301	postreplication repair
BP	IDA	GO:0006302	double-strand break repair
BP	IMP	GO:0006302	double-strand break repair
BP	TAS	GO:0006303	double-strand break repair via nonhomologous end joining
BP	IEA	GO:0006349	regulation of gene expression by genetic imprinting
BP	IEA	GO:0006351	transcription, DNA-templated
BP	IMP	GO:0006357	regulation of transcription by RNA polymerase II
BP	TAS	GO:0006359	regulation of transcription by RNA polymerase III
BP	IEA	GO:0006633	fatty acid biosynthetic process
BP	TAS	GO:0006915	apoptotic process
BP	TAS	GO:0006974	cellular response to DNA damage stimulus
BP	TAS	GO:0006978	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
BP	IMP	GO:0007059	chromosome segregation
BP	IEA	GO:0007098	centrosome cycle
BP	IDA	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
BP	IBA	GO:0009048	dosage compensation by inactivation of X chromosome
BP	IMP	GO:0010212	response to ionizing radiation
BP	IMP	GO:0010575	positive regulation of vascular endothelial growth factor production
BP	IMP	GO:0010628	positive regulation of gene expression
BP	IDA	GO:0016567	protein ubiquitination
BP	TAS	GO:0016579	protein deubiquitination
BP	NAS	GO:0030521	androgen receptor signaling pathway
BP	IDA	GO:0031398	positive regulation of protein ubiquitination
BP	IMP	GO:0033147	negative regulation of intracellular estrogen receptor signaling pathway
BP	IBA	GO:0035066	positive regulation of histone acetylation
BP	IDA	GO:0035066	positive regulation of histone acetylation
BP	IBA	GO:0035067	negative regulation of histone acetylation
BP	TAS	GO:0042127	regulation of cell proliferation
BP	TAS	GO:0042981	regulation of apoptotic process
BP	IBA	GO:0043009	chordate embryonic development
BP	IDA	GO:0043627	response to estrogen
BP	IEA	GO:0044030	regulation of DNA methylation
BP	IEA	GO:0044818	mitotic G2/M transition checkpoint
BP	IBA	GO:0045717	negative regulation of fatty acid biosynthetic process
BP	IMP	GO:0045717	negative regulation of fatty acid biosynthetic process
BP	IMP	GO:0045739	positive regulation of DNA repair
BP	IMP	GO:0045766	positive regulation of angiogenesis
BP	IDA	GO:0045892	negative regulation of transcription, DNA-templated
BP	IDA	GO:0045893	positive regulation of transcription, DNA-templated
BP	NAS	GO:0045893	positive regulation of transcription, DNA-templated
BP	TAS	GO:0045893	positive regulation of transcription, DNA-templated
BP	IBA	GO:0045944	positive regulation of transcription by RNA polymerase II
BP	IDA	GO:0045944	positive regulation of transcription by RNA polymerase II
BP	IMP	GO:0045944	positive regulation of transcription by RNA polymerase II
BP	NAS	GO:0046600	negative regulation of centriole replication
BP	IDA	GO:0051571	positive regulation of histone H3-K4 methylation
BP	IEA	GO:0051572	negative regulation of histone H3-K4 methylation
BP	IDA	GO:0051573	negative regulation of histone H3-K9 methylation
BP	IEA	GO:0051574	positive regulation of histone H3-K9 methylation
BP	IDA	GO:0051865	protein autoubiquitination
BP	TAS	GO:0070317	negative regulation of G0 to G1 transition
BP	IDA	GO:0070512	positive regulation of histone H4-K20 methylation
BP	IBA	GO:0071158	positive regulation of cell cycle arrest
BP	IDA	GO:0071158	positive regulation of cell cycle arrest
BP	IMP	GO:0071356	cellular response to tumor necrosis factor
BP	IDA	GO:0071681	cellular response to indole-3-methanol
BP	IMP	GO:0072425	signal transduction involved in G2 DNA damage checkpoint
BP	IDA	GO:0085020	protein K6-linked ubiquitination
BP	IMP	GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
BP	IMP	GO:2000378	negative regulation of reactive oxygen species metabolic process
BP	IDA	GO:2000617	positive regulation of histone H3-K9 acetylation
BP	IDA	GO:2000620	positive regulation of histone H4-K16 acetylation

Gene expression in normal tissue: BRCA1

Select Project:

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in BRCA1

Database	Pathway ID	Pathway Des.
biocarta	atmpathway	atm signaling pathway
biocarta	atrbrcapathway	role of brca1 brca2 and atr in cancer susceptibility
biocarta	bard1pathway	brca1 dependent ub ligase activity
biocarta	g2pathway	cell cycle: g2/m checkpoint
reactome	R-HSA-1221632	Meiotic synapsis
reactome	R-HSA-1474165	Reproduction
reactome	R-HSA-1500620	Meiosis
reactome	R-HSA-1640170	Cell Cycle
reactome	R-HSA-1640170	Cell Cycle
reactome	R-HSA-212436	Generic Transcription Pathway
reactome	R-HSA-2990846	SUMOylation
reactome	R-HSA-3108214	SUMOylation of DNA damage response and repair proteins
reactome	R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins
reactome	R-HSA-3700989	Transcriptional Regulation by TP53
reactome	R-HSA-392499	Metabolism of proteins
reactome	R-HSA-5633007	Regulation of TP53 Activity
reactome	R-HSA-5685938	HDR through Single Strand Annealing (SSA)
reactome	R-HSA-5685942	HDR through Homologous Recombination (HRR)
reactome	R-HSA-5688426	Deubiquitination
reactome	R-HSA-5689901	Metalloprotease DUBs
reactome	R-HSA-5693532	DNA Double-Strand Break Repair
reactome	R-HSA-5693537	Resolution of D-Loop Structures
reactome	R-HSA-5693538	Homology Directed Repair
reactome	R-HSA-5693554	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
reactome	R-HSA-5693565	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
reactome	R-HSA-5693567	HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
reactome	R-HSA-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates
reactome	R-HSA-5693571	Nonhomologous End-Joining (NHEJ)
reactome	R-HSA-5693579	Homologous DNA Pairing and Strand Exchange
reactome	R-HSA-5693606	DNA Double Strand Break Response
reactome	R-HSA-5693607	Processing of DNA double-strand break ends
reactome	R-HSA-5693616	Presynaptic phase of homologous DNA pairing and strand exchange
reactome	R-HSA-597592	Post-translational protein modification
reactome	R-HSA-6796648	TP53 Regulates Transcription of DNA Repair Genes
reactome	R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation
reactome	R-HSA-69473	G2/M DNA damage checkpoint
reactome	R-HSA-69481	G2/M Checkpoints
reactome	R-HSA-69620	Cell Cycle Checkpoints
reactome	R-HSA-73857	RNA Polymerase II Transcription
reactome	R-HSA-73894	DNA Repair
reactome	R-HSA-74160	Gene expression (Transcription)
reactome	R-HSA-8953750	Transcriptional Regulation by E2F6
reactome	R-HSA-912446	Meiotic recombination
wikipathways	WP138	Androgen receptor signaling pathway
wikipathways	WP1530	miRNA Regulation of DNA Damage Response
wikipathways	WP2261	Signaling Pathways in Glioblastoma
wikipathways	WP3646	Hepatitis C and Hepatocellular Carcinoma
wikipathways	WP3651	Pathways Affected in Adenoid Cystic Carcinoma
wikipathways	WP3808	TP53 Regulates Transcription of DNA Repair Genes
wikipathways	WP4172	PI3K-Akt Signaling Pathway
wikipathways	WP707	DNA Damage Response
pid	ar_pathway	Coregulation of Androgen receptor activity
pid	atf2_pathway	ATF-2 transcription factor network
pid	atm_pathway	ATM pathway
pid	aurora_a_pathway	Aurora A signaling
pid	bard1pathway	BARD1 signaling events
pid	e2f_pathway	E2F transcription factor network
pid	era_genomic_pathway	Validated nuclear estrogen receptor alpha network
pid	fanconi_pathway	Fanconi anemia pathway
pid	hnf3apathway	FOXA1 transcription factor network
pid	myc_represspathway	Validated targets of C-MYC transcriptional repression
kegg	hsa03440	Homologous recombination - Homo sapiens (human)
kegg	hsa03460	Fanconi anemia pathway - Homo sapiens (human)
kegg	hsa04120	Ubiquitin mediated proteolysis - Homo sapiens (human)
kegg	hsa04151	PI3K-Akt signaling pathway - Homo sapiens (human)
kegg	hsa05206	MicroRNAs in cancer - Homo sapiens (human)
kegg	hsa05224	Breast cancer - Homo sapiens (human)
netpath	Pathway_AndrogenReceptor	AndrogenReceptor
netpath	Pathway_TGF_beta_Receptor	TGF_beta_Receptor

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD193	Fqi1	2
iGMDRD686	PF4708671	1
iGMDRD281	Vinorelbine base	1
iGMDRD446	LY 2183240	3
iGMDRD375	GW-405833	3
iGMDRD280	CYTOCHALASIN B	2
iGMDRD387	CHIR-99021	2
iGMDRD971	PARP inhibitor	16
iGMDRD398	Sepantronium	2
iGMDRD562	Navitoclax	3
iGMDRD411	Platinum Agent	6
iGMDRD577	BIX01294	3
iGMDRD887	Compound 23 citrate	3
iGMDRD100	Zebularine	2
iGMDRD60	Quinoclamine	4
iGMDRD138	PX 12	3
iGMDRD318	PAC-1	5
iGMDRD211	(1S,3R)-RSL3	2
iGMDRD901	ELCPK	1
iGMDRD512	nutlin 3	2
iGMDRD307	Manumycin A	2
iGMDRD84	Lovastatin acid	2
iGMDRD382	CEP-701	1
iGMDRD424	Tamatinib	1
iGMDRD160	Cis-Platin	3
iGMDRD345	Compound 10b [PMID: 11504634]	4
iGMDRD42	Vorinostat	1
iGMDRD300	Tozasertib	2
iGMDRD479	Veliparib	2
iGMDRD381	Rucaparib	7
iGMDRD267	Oligomycin A	3
iGMDRD434	BMS-536924	7
iGMDRD62	Platinum	2
iGMDRD152	179324-69-7	1
iGMDRD1033	WEE1 inhibitor	2
iGMDRD639	YK 4-279	3
iGMDRD433	Lexibulin	4
iGMDRD781	Sirolimus	2
iGMDRD546	BMS-754807	1
iGMDRD506	Fedratinib	10
iGMDRD74	Idarubicin	4
iGMDRD730	Kahalalide F	1
iGMDRD356	PNU-74654	3
iGMDRD64	Parbendazole	5
iGMDRD474	Avrainvillamide	2
iGMDRD117	Docetaxel	1
iGMDRD383	Cediranib	1
iGMDRD123	Isoevodiamine	5
iGMDRD879	chemotherapy	4
iGMDRD584	VER 155008	3
iGMDRD330	BRD4132	2
iGMDRD79	Gemcitabine	3
iGMDRD583	LDN 193189	2
iGMDRD150	RITA	3
iGMDRD560	MK-2206	1
iGMDRD532	Olaparib	18
iGMDRD329	Merck60	7
iGMDRD331	Taxane	1
iGMDRD286	Nsc 632839	8
iGMDRD202	Curcumin	1
iGMDRD137	Indisulam	7
iGMDRD251	ML162	2
iGMDRD77	Itraconazole	2
iGMDRD288	Carboplatin	1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in BRCA1

SITE

DATATYPES

CLASSFICATION

Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.