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BRCA1 Gene

protein-coding GIFtS: 69

GC17M041197

breast cancer 1, early onset
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases & Descriptions
breast cancer 1, early onset¹ ²		breast cancer type 1 susceptibility protein²
RNF53¹ ² ³		breast and ovarian cancer susceptibility protein 1²
BRCC1¹ ²		BRCAI²
RING finger protein 53² ³		BRCA1/BRCA2-containing complex, subunit 1²
PSCP² ⁵		IRIS²
BROVCA1² ⁵		EC 6.3.2.-³
breast and ovarian cancer sususceptibility protein²

External Ids:	HGNC: 1100¹	Entrez Gene: 672²	Ensembl: ENSG00000012048⁷	UniProtKB: P38398³

Search outside databases for aliases for BRCA1 gene

Previous GC identifers: GC17P062255 GC17M043361 GC17M041105 GC17M041569 GC17M038450

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BRCA1:

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)

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398

Function: The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair,

ubiquitination and transcriptional regulation to maintain genomic stability. Acts by mediating ubiquitin E3 ligase

activity that is required for its tumor suppressor function. Plays a central role in DNA repair by facilitating

cellular response to DNA repair. Required for appropriate cell cycle arrests after ionizing irradiation in both the

S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage.

Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid

synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation

Gene Wiki entry for BRCA1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BRCA1 gene upstream (promoter) region

:
AP-1 c-Fos c-Jun STAT1 STAT1alpha STAT1beta p300 NF-1 p53 Sp1

Epigenetics:

SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for BRCA1:

MePH28472-1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21-q24

BRCA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M041197: view genomic region (about GC identifiers)

Start:	41,196,312 bp from pter
End:	41,277,500 bp from pter
Size:	81,189 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000017.10 NT_010783.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398 (See protein sequence)

Recommended Name: Breast cancer type 1 susceptibility protein

Size: 1863 amino acids; 207721 Da

Subunit: Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM,

BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the

cell cycle and within subnuclear domains. Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1,

UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and MERIT40/NBA1. Interacts (via BRCT domains) with

FAM175A/Abraxas and RBBP8. Associates with RNA polymerase II holoenzyme. Interacts with SMC1A and COBRA1/NELFB.

Interacts (via BRCT domains) with BRIP1. Interacts with FANCD2 (ubiquitinated). Interacts with BAP1. Interacts with

DCLRE1C/Artemis and CLSPN. Interacts with H2AFX (phosphorylated on 'Ser-140'). Interacts with CHEK1/CHK1. Interacts

with BRCC3. Interacts (via BRCT domains) with ACACA (phosphorylated); the interaction prevents dephosphorylation of

ACACA

Subcellular location: Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA

damage sites is mediated by the BRCA1-A complex

Subcellular location: Isoform 3: Cytoplasm

Subcellular location: Isoform 5: Cytoplasm

PDB structures from and Proteopedia :

1JM7 (3D)

1JNX (3D)

1N5O (3D)

1OQA (3D)

1T15 (3D)

1T29 (3D)

1T2U (3D)

1T2V (3D)

1Y98 (3D)

2ING (3D)

3COJ (3D)

3K0H (3D)

3K0K (3D)

3K15 (3D)

3K16 (3D)

Secondary accessions: O15129 Q3LRJ0 Q7KYU9

Alternative splicing, Alternative initiation: 5 isoforms: P38398-1 P38398-2 P38398-3 P38398-4 P38398-5

Post-translational modifications:

Phosphorylated in response to IR, UV, and various stimuli that cause checkpoint activation, probably by ATM or ATR¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (11 alternative transcripts):

NP_009225.1 NP_009226.1 NP_009227.1 NP_009228.2 NP_009229.2 NP_009230.2 NP_009231.2 NP_009233.1

NP_009234.1 NP_009235.2 NP_009236.1

ENSEMBL proteins:

ENSP00000411408 ENSP00000377285 ENSP00000310938 ENSP00000377288 ENSP00000377294 ENSP00000338007

ENSP00000312236 ENSP00000326002 ENSP00000246907 ENSP00000013772 ENSP00000417241 ENSP00000397145

ENSP00000418212 ENSP00000417988 ENSP00000420781 ENSP00000417554 ENSP00000420201 ENSP00000419481

ENSP00000419103 ENSP00000420705 ENSP00000419274 ENSP00000420412 ENSP00000418548 ENSP00000417148

ENSP00000418819 ENSP00000418775 ENSP00000418960 ENSP00000419988 ENSP00000418986 ENSP00000420253

ENSP00000350283

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	HuPro® and/or Recombinant Proteins from Abnova for BRCA1
	Browse Origene full length recombinant human proteins expressed in human HEK293 cells
	Novus Biologicals Proteins for BRCA1
	Browse Sino Biological Recombinant Proteins

5/12 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 12 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000151	ubiquitin ligase complex	NAS	14976165
GO:0000793	condensed chromosome	--	--
GO:0005622	intracellular	IEA	--
GO:0005634	nucleus	IDA	17525340 17643121
GO:0005654	nucleoplasm	EXP	10550055

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BRCA1 for ontologies About GeneDecksing

Antibodies for BRCA1:

	Millipore Mono- and Polyclonal Antibodies for the study of BRCA1
	Sigma-Aldrich Antibodies for BRCA1
	R&D Systems Antibodies for BRCA1
	Cell Signaling Technology (CST) Antibodies for BRCA1
	Monoclonal and Polyclonal Antibodies from Abnova (BRCA1)
	Browse Origene Antibodies
	Novus Biologicals Antibodies for BRCA1
	Browse antibodies at Epitomics

Assays for BRCA1:

	Millipore Kits and Assays for the Analysis of BRCA1
	Browse ELISAs at Sigma-Aldrich
	Browse R&D Systems for biochemical assays
	Browse Enzo Life Sciences for kits & assays

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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BRCA1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7 ):

IPR001841 Znf_RING

IPR002378 Brst_cancerI

IPR011364 BRCA1

IPR006957 EIN3

IPR017907 Znf_RING_CS

Graphical View of Domain Structure for InterPro Entry P38398

ProtoNet protein and cluster: P38398

3 Blocks protein families:

IPB001357 BRCT domain

IPB001841 Zn-finger

IPB002378 Breast cancer type I susceptibility protein signature

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398

Domain: The BRCT domains recognize and bind phosphorylated pSXXF motif on proteins. The interaction with the

phosphorylated pSXXF motif of FAM175A/Abraxas, recruits BRCA1 at DNA damage sites

Domain: The RING-type zinc finger domain interacts with BAP1

Similarity: Contains 2 BRCT domains

Similarity: Contains 1 RING-type zinc finger

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib. RNA:		Millipore RNAi Products for the Analysis of BRCA1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (BRCA1)
		Origene 29mer shRNA kits in GFP-retroviral vector (see all 14): BRCA1 Origene shRNA RFP (see all 14): BRCA1 Origene basic RS shRNA (see all 14): BRCA1
		Applied Biosystems Silencer® siRNAs for BRCA1
		Sigma-Aldrich siRNA Panels and siRNA for BRCA1 Sigma-Aldrich shRNA Panels and shRNA for BRCA1 Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		Origene GFP tagged cDNA clones in CMV expression vector (see all 14): BRCA1 Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 11): BRCA1 Origene untagged cDNA clones in CMV expression vector (see all 8): BRCA1
		Browse Sino Biological Human cDNA Clones

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398

Function: The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair,

ubiquitination and transcriptional regulation to maintain genomic stability. Acts by mediating ubiquitin E3 ligase

activity that is required for its tumor suppressor function. Plays a central role in DNA repair by facilitating

cellular response to DNA repair. Required for appropriate cell cycle arrests after ionizing irradiation in both the

S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage.

Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid

synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation

Enzyme Number (IUBMB): EC 6.3.2.-

Genatlas biochemistry entry for BRCA1:

nuclear cell cycle regulated phosphoprotein of breast epithelium,located at the centrosome during M phase,associating

with RAD51 (RECA) at S phase of mitosis,putative negative regulator of cell growth (in a RB-dependent

fashion),phosphorylated by ATM protein kinase in response to ionizing radiation induced DNA damage,then activating DNA

repair through homologous recombination in cooperation with BRCA2,RAD51 and RAD52,P-BRCA,also complexing with RNA

polymerase II holoenzyme,may also regulate transcription,recruiting CREBBP and interacting with components of the

histone deacetylase complex,mediating ubiquitin-conjugating enzyme (E2)-dependent ubiquitination through the RING

finger domain,induction of BRCA1 triggers JNK/SAPK (MAPK8) dependent apoptosis through induction of DDIT1 (GADD45)

5/14 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 14 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003684	damaged DNA binding	--	--
GO:0003713	transcription coactivator activity	NAS	15572661
GO:0003723	RNA binding	IDA	12419249
GO:0004842	contributes to ubiquitin-protein ligase activity	IDA	17349954

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BRCA1 for ontologies About GeneDecksing

Animal Models: 15/25 MGI mutant phenotypes (inferred from 17 alleles) (MGI details for Brca1) (see all 25 ):

adipose tissue	behavior/neurological	cardiovascular system	cellular	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism
immune system	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail

BRCA1 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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BRCA1 for pathways About GeneDecksing

5/10 Millipore Pathways for BRCA1 (see all 10 )

	DNA damage ATM/ATR regulation of G1/S checkpoint
	Development VEGF signaling and activation
	Meiosis
	Cell cycle Regulation of G1/S transition (part 1)
	DNA damage DNA-damage-induced responses

5/10 Sigma-Aldrich "Your Favorite Gene" Pathways for BRCA1 (Your Favorite Gene powered by Ingenuity) (see all 10 )

	Role of Oct4 in Mammalian Embryonic Stem Cell Pluripotency
	p53 Signaling
	Molecular Mechanisms of Cancer
	ATM Signaling
	Ovarian Cancer Signaling

5/11 GeneAssist Pathways for BRCA1 (see all 11 )

	Estrogen Pathway
	JAK-STAT Pathway
	Fanconi's Anaemia Pathway
	ATM Pathway
	Molecular Mechanisms of Cancer

1 Cell Signaling Technology (CST) Pathway for BRCA1:

Cell Cycle Control: G2/M DNA Damage Checkpoint

1 Kegg Pathway (Kegg details for BRCA1):

hsa04120 Ubiquitin mediated proteolysis

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398

Pathway: Protein modification; protein ubiquitination

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BRCA1

5/145 Interacting proteins for BRCA1 (ENSP00000350283³ P38398^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 145 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ESR1	P03372¹^,²	STRING: ENSP00000206249 EBI-349905,EBI-78473 MINT-13785 MINT-13786 EBI-349905,EBI-78473 MINT-13785 MINT-13786
BARD1	Q99728¹^,²	STRING: ENSP00000260947 EBI-349905,EBI-473181 MINT-25055 EBI-349905,EBI-473181 MINT-25055
BRIP1	Q9BX63²	STRING: ENSP00000259008 MINT-19306 MINT-19307 MINT-5115454 MINT-19369 MINT-5115319 MINT-5115375 MINT-5115552 MINT-19368 MINT-5115303 MINT-5115348
BRAP	Q7Z569¹^,²	EBI-349905,EBI-349900 MINT-16087 MINT-16089 MINT-16088 EBI-349905,EBI-349900 MINT-16087 MINT-16089 MINT-16088
NCK1	P16333¹^,²	EBI-349905,EBI-389883 MINT-7250578 EBI-349905,EBI-389883 MINT-7250578

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5/33 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 33 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000724	double-strand break repair via homologous recombination	IDA	17349954
GO:0006260	DNA replication	--	--
GO:0006281	DNA repair	--	--
GO:0006301	postreplication repair	IDA	17349954
GO:0006302	double-strand break repair	IMP	17525340 17643121 19261748

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BRCA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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BRCA1 for compounds About GeneDecksing

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for BRCA1
10/210 Novoseek chemical compound relationships for BRCA1 gene (see all 210 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
indole-3-carbinol	6.34	13	16434996 (6), 19622773 (2), 11110848 (2), 10868478 (2) (see all 5)
3,3'-diindolylmethane	5.97	8	19622773 (8)
methylmethanethiosulfonate	5.85	6	17531442 (6)
hboc	4.58	6	17636423 (3), 18645608 (1), 17221156 (1), 11597388 (1)
plumbagin	4.37	6	14694444 (4), 18187487 (2)
irofulven	4.10	5	17229870 (5)
tamoxifen	3.30	62	11710890 (7), 18997820 (6), 14645421 (4), 11870509 (4) (see all 29)
acca	2.61	4	16698035 (4)
t 340	2.50	1	11332994 (1)
bpde	2.38	9	11191113 (4), 11782367 (3), 10506754 (2)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Millipore RNAi Products for the Analysis of BRCA1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (BRCA1)
		Applied Biosystems Silencer® siRNAs: NM_007294 NM_007297 NM_007298 NM_007299 NM_007300
		Origene 29mer shRNA kits in GFP-retroviral vector (see all 14): BRCA1 Origene shRNA RFP (see all 14): BRCA1 Origene basic RS shRNA (see all 14): BRCA1
		Sigma-Aldrich siRNA Panels and siRNA for BRCA1 Sigma-Aldrich shRNA Panels and shRNA for BRCA1 Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:		2 SABiosciences microRNAs that regulate BRCA1:
		hsa-miR-212 hsa-miR-132

Assays:

NM_007294 NM_007297 NM_007298 NM_007299 NM_007300

Clones:

Origene GFP tagged cDNA clones in CMV expression vector (see all 14): BRCA1
Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 11): BRCA1
Origene untagged cDNA clones in CMV expression vector (see all 8): BRCA1

Primers:		Origene genome-wide validated SYBR primer pairs: BRCA1
		SABiosciences RT2 qPCR Primer Assay for BRCA1: PPH00322A

REFSEQ mRNAs for BRCA1 gene (11 alternative transcripts):

NM_007294.3 NM_007295.2 NM_007296.2 NM_007297.3 NM_007298.3 NM_007299.3 NM_007300.3 NM_007302.2

NM_007303.2 NM_007304.2 NM_007305.2

Additional cDNA sequence:

AF005068.1 AK093551.1 AK293762.1 AK307553.1 AK308084.1 AK311131.1 AK316200.1 AY354539.2

AY751490.1 BC012577.1 BC030969.1 BC038947.1 BC046142.1 BC062429.1 BC072418.1 BC085615.1

BC106745.1 BC106746.1 BC114511.1 BC114562.1 BC115037.1 DQ333386.1 DQ333387.1 DQ363751.1

U14680.1 U64805.1 U68041.1 Y08864.1

18 DOTS entries:

DT.313524 DT.91764293 DT.100785659 DT.100785660 DT.100785657 DT.91764294 DT.426829 DT.102831055

DT.102839953 DT.120910679 DT.120910781 DT.120969440 DT.75119216 DT.86851763 DT.91764295 DT.97813828

DT.120910801 DT.95149213

24/146 AceView cDNA sequences (see all 146 ):

CB158976 BU617173 AW514868 CB136844 BQ422380 AU125312 BG257190 BC046142

BQ676829 CB155501 BU155689 CK822699 CB108172 AL043576 BQ681242 BC072418

U14680 BG681276 BQ683955 AA486004 BC030969 BM755305 BM755214 BU194336

highest scoring ESTs for BRCA1:

U14680 AA205474 AF005068 AL701927 AL704228 AU098869 BC012577 BC030969 BC072418 BG257190

Unigene Cluster for BRCA1:

Breast cancer 1, early onset

Hs.194143 [show with all ESTs]

Unigene Representative Sequence: NM_007300

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for BRCA1 (see all 8 )

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10a	·	10b	·	10c	·	10d	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16a	·
SP1:							-																														-
SP2:																	-																				-
SP3:																																	-		-		-
SP4:							-																										-		-		-
SP5:																											-		-				-		-		-

ExUns:	16b	^	17	^	18	^	19	^	20	^	21	^	22	^	23
SP1:	-
SP2:	-
SP3:	-
SP4:	-
SP5:	-

About this scheme

ECgene alternative splicing isoforms for BRCA1

18/33 Ensembl transcripts including schematic representations (see all 33 ):

ENST00000430698 ENST00000393680 ENST00000309486 ENST00000393683 ENST00000393691 ENST00000351666

ENST00000352993 ENST00000354071 ENST00000346315 ENST00000353540 ENST00000461574 ENST00000412061

ENST00000472490 ENST00000487825 ENST00000461798 ENST00000489037 ENST00000476777 ENST00000473961

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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BRCA1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for BRCA1

¹ / ² / ³

8 probe-sets matching BRCA1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1993_s_at²^{, 3}	U95-A	1	1.00	1.00	0.76	0.65	U14680	1.00	1.00	1.00	1
604_at²^{, 3}	U95-A	1	1.00	1.00	0.85	1.09	L78833	0.20	0.25	0.23	1
33724_at²^{, 3}	U95-A	1	1.00	1.00	0.60	1.13	U64805	0.80	1.00	0.91	1
83730_at*²	U95-E	1	--	--	0.40	1.22	--	--	--	--	--
211851_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF005068	0.80	1.00	0.91	1
204531_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_007295	0.60	1.00	0.82	1
211851_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204531_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

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BRCA1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.194143

Expression variation in blood from EXPOLDB for BRCA1

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398

Tissue specificity: Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and

ovarian cancer cell lines

Primers:		Origene genome-wide validated SYBR primer pairs: BRCA1
		SABiosciences RT2 qPCR Primer Assay for BRCA1: PPH00322A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for BRCA1 gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	BRCA1¹	--	breast cancer 1, early onset	84.1(n) 74.83(a)	403437 NM_001013416.1 NP_001013434.1
chimpanzee (Pan troglodytes)	BRCA1¹	--	breast cancer 1, early onset	99.29(n) 98.19(a)	449497 XM_001157352.1 XP_001157352.1
cow (Bos taurus)	BRCA1¹	--	breast cancer 1, early onset	83.74(n) 72.72(a)	353120 NM_178573.1 NP_848668.1
rat (Rattus norvegicus)	Brca1¹	--	breast cancer 1	75.24(n) 58.28(a)	497672 NM_012514.1 NP_036646.1
mouse (Mus musculus)	Brca1^{1, 5}	11 (60.50 cM)⁵	breast cancer 1^{1, 5}	74.34(n)¹ 58.15(a)¹	12189¹ NM_009764.2¹ NP_033894.2¹ AB221610⁵ AB221611⁵ (see all 18)

About this table Species with no ortholog for BRCA1

ENSEMBL Gene Tree for BRCA1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398

Polymorphism: There is evidence that the presence of the rare form of Gln-356-Arg and Leu-871-Pro polymorphisms may be

associated with an increased risk for developing ovarian cancer

10/97 NCBI SNPs in BRCA1 are shown (see all 97 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 144)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Related Data				Allele Frequencies
				--	--	--		--	--			--
	rs799905^1,2	C,F,O,A	37043496(+)	`CCCCCG/CTCAAA`	11	--	int¹ ng5¹		12	MN NS EA NA WA	996
	rs12516^1,2	C,F,A,H	36962759(-)	`CCCCCC/TAGTGT`	11	--	ut3¹		16	NS MN EA NA WA	1300
	rs799906^1,2	C,F,A,H	37044425(+)	`TAGTCT/CTGTAA`	11	--	ng5¹		15	NS EA MN NA WA	1140
--	rs799908^1,2	C,F,A,H	37045225(+)	`gttccG/Aggtgg`	11	--	ng5¹ tfbs³		3	MN NA	8
--	rs799907^1,2	C,F,A	37045034(+)	`ctcggG/Cgcctc`	11	--	ng5¹		2	NA	4
--	rs799909^1,2	C,F	37045536(+)	`caggcG/Acccgg`	10	--	ng5¹		1	WA	50
--	rs1800707^1,2	C,H	37000873(-)	`ATAAAG/TCTCCA`	22	K N	ref¹ mis¹ ese³		9	MN NS EA	810
--	rs4793204^1,2	C,A	37045607(+)	`ttggaA/Gaactt`	10	--	ng5¹ tfbs³		1	MN	8
--	rs3092995^1,2	C,F	36964008(-)	`GACCCC/GAAGAA`	11	--	ut3¹ ese³		10	NS EA NA	1024
--	rs3092986^1,2	C,F	37044305(-)	`AGTCCA/GTAACT`	11	--	ng5¹		3	NS NA	242

About this table

HapMap Linkage Disequilibrium images for BRCA1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BRCA1: --

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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BRCA1 for disorders About GeneDecksing

OMIM: 113705 disorders: 604370

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398

Defects in BRCA1 are a cause of genetic susceptibility to breast cancer (BC) [MIM:113705, 114480]. BC is an

extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been

identified as major contributor to risk of development of the disease, and this link is striking for early-onset

breast cancer. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover, BRCA1

carriers have a 4-fold increased risk of colon cancer, whereas male carriers face a 3-fold increased risk of prostate

cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination

Defects in BRCA1 are a cause of susceptibility to familial breast-ovarian cancer type 1 (BROVCA1)

[MIM:604370]. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer

Defects in BRCA1 are a cause of genetic susceptibility to ovarian cancer [MIM:113705]

10/378 Novoseek disease relationships for BRCA1 gene (see all 378 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	100.00	3415	20223018 (9), 19174581 (9), 17557253 (8), 11710890 (8) (see all 100)
ovarian cancer	100.00	2301	9796975 (8), 15581943 (8), 20223018 (7), 10882857 (7) (see all 100)
breast cancer, familial	100.00	397	8616762 (8), 8751855 (4), 18257128 (4), 15564800 (4) (see all 100)
sporadic breast cancer	100.00	257	9778046 (7), 16334138 (5), 15383419 (5), 10835497 (5) (see all 100)
breast tumor	100.00	277	11506493 (6), 17511879 (5), 16846527 (5), 9950212 (4) (see all 100)
brca1 mutation	100.00	1896	9815648 (9), 19723349 (9), 16084122 (9), 10686936 (9) (see all 100)
brca2 mutation	100.00	1456	11844822 (7), 20043088 (6), 17196508 (6), 17148771 (6) (see all 100)
germline mutation	100.00	640	9544766 (4), 8875986 (4), 19619314 (4), 17997147 (4) (see all 100)
brcax	100.00	53	20174566 (6), 18497862 (5), 18327210 (4), 15709182 (4) (see all 22)
breast-ovarian cancer	100.00	131	9197534 (4), 7627958 (3), 15146557 (3), 14984472 (3) (see all 97)

About this table

Genatlas disease: BRCA1

breast carcinoma,early onset,high tumor grade,negative estrogen and progesterone receptor status,and high

proliferative rate,breast ovarian cancer family,familial site-specific ovarian cancer,Lynch syndrome II (see

TSG17B),excluding familial male breast cancer,including early onset gastric carcinoma,not frequently prostate

carcinomas

GeneTests: BRCA1

BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer

Locus Specific Mutation Databases: BRCA1
Human Gene Mutation Database: BRCA1
Genetic Association Database: BRCA1
Human Genome Epidemiology Navigator: BRCA1 (717 documents)
Tumor Gene Database: BRCA1
Breast Cancer Gene Database: BRCA1

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/2539 PubMed articles for BRCA1 gene (see all 2539 ):

One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. (PubMed id 14746861)^{3, 4, 6} Malander S.... Borg A. (2004)
Breast cancer risk and the DNA double-strand break end-joining capacity of nonhomologous end-joining genes are affected by BRCA1. (PubMed id 15256476)^{1, 3, 6} Bau D.T....Shen C.Y. (2004)
A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. (PubMed id 14680495)^{1, 3, 6} Robson M.E....Foulkes W.D. (2004)
A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. (PubMed id 11857015)^{1, 3, 6} Antoniou A.C....Easton D.F. (2002)
[Clinical and pathological characteristics and clinical course of patients with breast cancer and BRCA1/BRCA2 mutations] (PubMed id 11481082)^{1, 3, 6} Pericay C....Alonso C. (2001)
Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. (PubMed id 14722926)^{1, 3, 4} Valarmathi M.T.... Das S.N. (2004)
[Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai] (PubMed id 16324400)^{1, 3, 6} Song C.G....Shao Z.M. (2005)
[Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people] (PubMed id 15059511)^{1, 3, 6} Zhou Y.Z....Fang F.D. (2004)
[Analysis of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives.] (PubMed id 15777502)^{1, 3, 6} Hu Z....Shao Z.M. (2004)
Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer, or both. (PubMed id 12928470)^{1, 3, 6} de la Hoya M....Caldes T. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 672	HGNC: 1100	AceView: BRCA1	Ensembl:ENSG00000012048	euGenes: HUgn672
ECgene: BRCA1	Kegg: 672	H-InvDB: BRCA1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for BRCA1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRCA1
NIEHS-SNPs	http://egp.gs.washington.edu/data/brca1/
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=BRCA1
Wikipedia	http://en.wikipedia.org/wiki/BRCA1

Intellectual Property for BRCA1 gene
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Patent Information for BRCA1 gene:

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GeneCards and IP:

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Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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Products for BRCA1:

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breast mouse
herpes
malformation
ovarian cancer, familial
ovarian dysgerminoma
malignant pleural effusion
relapse
lymphocytic infiltrate
germline mutation
tumor morphology
cystic fibrosis
aneuploid
multiple tumors
braf gene mutation
breast cancer squamous cell
nonsense mutation
premalignant lesion
human mammary carcinoma
metaplastic carcinoma
malignant disease
lesion; primary
lymphoma
xeroderma pigmentosum group g
male breast tumor
ovarian cancer
epithelial proliferation
malignant phyllodes tumor
leiomyoma
cervical cancer stage iii
hamartoma
canavan disease
endometrial tumor
alcoholic pancreatitis
insulinoma
ovarian serous carcinoma
tongue tumor
neutropenia
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sex cord-stromal tumor
metabolic syndrome
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seckel syndrome
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hyperplasia; uterus
metastatic carcinoma
abortion (spontaneous)
osteosarcoma
worried well
dna interstrand crosslinking
beta-thalassemia
BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer
cartilaginous metaplasia
bloom syndrome
aging; premature
early disease onset
breast disease fibrocystic
atypical medullary carcinoma
herpesvirus infection
hereditary non-polyposis colorectal cancer syndrome
ewing sarcoma
undifferentiated carcinoma
benign tumor
nbccs
lymphoma (non-hodgkins)
fancn
gene abnormality
brcax
invasive breast cancer
leiomyosarcoma
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multiple endocrine neoplasia type 2
ovarian epithelial tumor
bone sarcoma
medullary thyroid carcinoma
papilloma
atypical hyperplasia
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genotoxic stress
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chromosome fragment
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NF1
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shock
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hnscc
rectal cancer
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hyperkeratosis
tuberous sclerosis complex
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Nbs
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pelvic tumor
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glanzmann thrombasthenia
microcephalies
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delay; developmental
serous carcinoma
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cervical carcinoma, invasive
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endometrial cancer
dna repair deficiency
down syndrome
adenosis sclerosing
brca1 mutation
chek2 gene mutation
residual tumor
von hippel-lindau disease
endometriosis
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tumor growth
phyllodes tumor
cyclin d1 gene amplification
cns sarcoma
disease, tay-sachs
hyperthyroidism
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nsclc
tumor necrosis
cancer
insertion mutation
disease characteristic
break, double-strand dna
cutaneous melanoma
fallopian tube carcinoma
growth arrest
oncogenesis
cystadenoma serous
acute promyelocytic leukemia
46,xx true hermaphrodite
ductal hyperplasia
invasive lobular carcinoma
cell transformation
precancerous lesions
primary peritoneal carcinoma
breast cancer stage ii
brain tumor
TCC
lobular carcinoma
gynecomastia
mucinous tumor
multiple endocrine neoplasia type 1
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lymphocytic infiltration
ataxia telangiectasia
lipoma
telangiectasia
epithelial hyperplasia
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hyperplasia
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cytoplasmic accumulation
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pathogeneses
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STIC
cancer, radiation-induced
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hematologic malignancies
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hypertrophies
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adenoma
polycystic kidney disease
radiation-induced dna damage
xenograft model
spina bifida
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syndrome; turner
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breast cancer stage
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angioedema; hereditary
malignant transformation
dcis
infection viral
chromosomal deletion
metastatic bladder cancer
microsatellite instability
retinoblastoma
proliferative breast disease
myelomeningocele
gynecologic tumor
dystrophy; myotonic
anxiety; state
hypoxic
cellular stress
occult carcinoma
fancj
bard1, cys557ser
cervical lesion
sorsbys fundus dystrophy
skin abnormalities
cancer cell growth
adenocarcinoma
advanced cancer
neck cancer
early menopause
leukoplakia
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peritoneal cancer
distress
disease; hodgkin
polyposis
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sickle cell disease
immunodeficiency
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clear cell carcinoma
cancer recurrence
prostate cancer
mammary tumorigenesis
carcinoma hepatocellular
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lymphoid tumor
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bladder cancer
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invasive carcinoma
cowden syndrome
unilateral breast cancer
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lead line
double minutes
bilateral cancer
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laryngeal carcinoma
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mutagenic effect
mucinous carcinoma
ovarian endometrioid carcinoma
telomere shortening
breast tumor
multiple cancer, primary
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anencephaly
nuclear accumulation
invasive ductal carcinoma
aberrant dna methylation
mcph1
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sertoli cell tumor
retroviral infection
gauchers
pathological angiogenesis
cancer family syndrome
myoma
allelic imbalance
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chromosomal loss
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fanconi
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