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BRCA1 Gene

protein-coding   GIFtS: 72

GC17M038450
breast cancer 1, early onset
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for BRCA1

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
BRCAI 2
BRCC1 1, 2
BROVCA1 2, 5
EC 6.3.2.- 3
IRIS 2
PSCP 2, 5
RNF53 1, 2, 3
Descriptions
BRCA1/BRCA2-containing complex, subunit 1 2
RING finger protein 53 2, 3
breast and ovarian cancer susceptibility protein 1 2
breast cancer 1, early onset 2
External Ids
HGNC: 11001
Entrez Gene: 6722
UniProtKB: P383983
Ensembl: ENSG000000120487
Search outside databases for aliases for BRCA1 gene

Previous GC identifers: GC17P062255 GC17M043361 GC17M041105 GC17M041569

Summaries
for BRCA1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene 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

Genomic Location
for BRCA1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the BRCA1 gene  

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 GC17M038450:     (about GC identifiers)

Start:
 38,449,840 bp from pter
End:
 38,530,994 bp from pter
Size:
 81,155 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010755.15  

Proteins
for BRCA1

(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 Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 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)    
Secondary accessions: O15129 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: 
    ENSP00000310938 ENSP00000377285 ENSP00000377288 ENSP00000350283 ENSP00000013772 ENSP00000326002 
    ENSP00000246907 ENSP00000312236 ENSP00000338007 ENSP00000377294 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for 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
    Recombinant Proteins from Abcam (BRCA1)
    Human Recombinant Proteins from Abnova (BRCA1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151 ubiquitin ligase complex NAS14976165
    GO:0000793 condensed chromosome IEA--
    GO:0005622 intracellular IEA--
    GO:0005634 nucleus TAS10918303
    GO:0005654 nucleoplasm EXP10550055
    About this table

    Antibodies for BRCA1: 
    Browse Antibodies Central at Invitrogen
    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 
    Antibodies from Abcam (BRCA1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (BRCA1)
    Novus Biologicals Antibodies for BRCA1

    Assays for BRCA1: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of BRCA1
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for BRCA1

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro domains/families (see all 6 ):
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR002378 Brst_cancerI
     IPR011364 BRCA1
     IPR018957 Znf_C3HC4_RING-type


       GeneDecks  BRCA1 for the domains selected above  
    About GeneDecksing

    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

    Gene Function
    for BRCA1

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (BRCA1)
    Millipore RNAi Products for the Analysis of BRCA1 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (BRCA1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 13): NM_007294

                  Applied Biosystems Silencer® siRNAs for BRCA1

                  Sigma-Aldrich siRNA and siRNA Panels for BRCA1  
                         Sigma-Aldrich shRNA Panels and shRNA for BRCA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 11): NM_007294
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 11): NM_007294
                                     untagged cDNA clones in CMV expression vector (see all 12): NM_007294 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_007295

    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)

    15/17 MGI mutant phenotypes (inferred from 16 alleles) (MGI details for Brca1) (see all 17 ):

    cellularembryogenesisendocrine/exocrine glandgrowth/sizehematopoietic system
    immune systemlethality-postnatallethality-prenatal/perinatallife span-post-weaning/aginglimbs/digits/tail
    nervous systemnormalpigmentationrenal/urinary systemreproductive system

    5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684 damaged DNA binding IEA--
    GO:0003713 transcription coactivator activity NAS15572661
    GO:0004842contributes to ubiquitin-protein ligase activity NAS15905410
    GO:0008270 zinc ion binding TAS8944023
    GO:0015631 tubulin binding NAS12214252
    About this table

    Pathways & Interactions
    for BRCA1

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    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 Apr 2009 via Entrez Gene.)
    About This Section

    5 Invitrogen iPath™ Online BioAtlas - Pathways for BRCA1 (Maps provided by GeneGo):
     p53-dependent apoptosis
     Cell Cycle Regulation by Brca1
     VEGF signaling and activation
     Role of Brca1 and Brca2 in DNA repair
     Estrogen receptor signaling pathway

       GeneDecks  BRCA1 for the pathways selected above  
    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

       GeneDecks  BRCA1 for the pathways selected above  
    About GeneDecksing

    5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for  BRCA1  (Your Favorite Gene powered by Ingenuity) (see all 8 ) 
     p53 Signaling
     Protein Ubiquitination Pathway
     Cell Cycle: G2/M DNA Damage Checkpoint Regulation
     Role of CHK Proteins in Cell Cycle Checkpoint Control
     Molecular Mechanisms of Cancer

       GeneDecks  BRCA1 for the pathways selected above  
    About GeneDecksing

    1 Cell Signaling Technology (CST) Pathway for BRCA1: 
     Cell Cycle Control: G2/M DNA Damage Checkpoint

       GeneDecks  BRCA1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for BRCA1):
     hsa04120 Ubiquitin mediated proteolysis

       GeneDecks  BRCA1 for the pathways selected above  
    About GeneDecksing
    UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
    Pathway: Protein modification; protein ubiquitination

     Gene Network CentralTM Interacting Genes and Proteins Network for  BRCA1 


    5/265 Interacting proteins for BRCA1 (ENSP000003502833 P383981, 2) via UniProtKB, MINT, and/or STRING (see all 265 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRIP1Q9BX632STRING (score=.999) MINT-19306 MINT-19307 MINT-5115454 MINT-19369 MINT-5115319 MINT-5115375 MINT-5115552 MINT-19368 MINT-5115303 MINT-5115348
    ACACAQ130851STRING (score=.98) EBI-349905, EBI-717681
    BACH1O148671STRING (score=.913) EBI-349905, EBI-1263541
    BAP1Q925601STRING (score=.752) EBI-2015072, EBI-1791447
    CCND1P243851STRING (score=.994) EBI-349905, EBI-375001
    About this table

    5/23 Gene Ontology (GO) biological process terms (links to tree view) (see all 23 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724 double-strand break repair via homologous recombination IDA17349954
    GO:0006260 DNA replication IEA--
    GO:0006301 postreplication repair IDA17349954
    GO:0006357 regulation of transcription from RNA polymerase II promoter TAS10910365
    GO:0006359 regulation of transcription from RNA polymerase III promoter TAS10918303
    About this table

    Drugs & Compounds
    for BRCA1

    (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)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for BRCA1
    10/40 Novoseek chemical compound relationships for BRCA1 gene (see all 40 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    progesterone 53.12 62 18197009 (4), 16109739 (4), 15816544 (3), 11981002 (2) (see all 34)
    alpha-naphthoflavone 13.48 3 10506754 (1), 11191113 (1)
    5-methylcytosine 10.76 5 15190129 (1), 12154064 (1), 10954590 (1), 11751682 (1)
    bpde 5.15 10 11782367 (3), 11191113 (3), 10506754 (2)
    thymidine 5.05 2 9667663 (1), 11103814 (1)
    diepoxybutane 4.83 2 17078101 (1)
    guanylate 4.53 1 12966421 (1)
    selenium 3.95 2 16619485 (1), 15894690 (1)
    linoleic acid 3.73 8 10806298 (5)
    gold 2.02 2 16825125 (1), 19441445 (1)
    About this table


    Transcripts
    for BRCA1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) 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 Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (BRCA1)
    Millipore RNAi Products for the Analysis of BRCA1 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (BRCA1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 13): NM_007294

                  Sigma-Aldrich siRNA and siRNA Panels for BRCA1  
                         Sigma-Aldrich shRNA Panels and shRNA for BRCA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_007294  NM_007295  NM_007296  NM_007297  NM_007298  NM_007299  NM_007300  NM_007302  
    NM_007303  NM_007304  NM_007305  

    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   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_007294  NM_007295  NM_007296  NM_007297  NM_007298  NM_007299  NM_007300  NM_007302  
    NM_007303  NM_007304  NM_007305  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 11): NM_007294
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 11): NM_007294
                                     untagged cDNA clones in CMV expression vector (see all 12): NM_007294 

    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 BC114562.1 BC115036.1 BC115037.1 BC115038.1 U14680.1 U64805.1 
    U68041.1 Y08864.1 

    18 DOTS entries:

    DT.313524  DT.91764293  DT.100785659  DT.100785660  DT.91764294  DT.100785657  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 ):

    AW514868 CB158976 BM755214 BQ683955 AA086435 BG257190 CK822699 BU194336 
    AU125312 AU122476 BM755305 CB155501 BC046142 BC072418 BM988066 AL043576 
    AA486004 CB136844 BC030969 U14680 CB108172 BG681276 BU617173 BQ676829 

    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_007295


    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

    10 Ensembl transcripts including schematic representations:
    ENST00000309486  ENST00000393680  ENST00000393683  ENST00000357654  ENST00000353540  ENST00000354071  
    ENST00000346315  ENST00000352993  ENST00000351666  ENST00000393691  

    Expression
    for BRCA1

    (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 219 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 )
    About This Section

    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  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		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

    		1993_s_at2, 3 U95-A 2 1.00 0.97 0.76 0.65 U14680 1.00 1.00 1.00 1

    		83730_at2 U95-E 1 0.38 1.00 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 -- -- -- -- -- -- --
    About this table
    Data from (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

    Orthologs
    for BRCA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    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)    		 Brca11, 5 11 (60.50 cM)5
    		 breast cancer 11, 5 74.34(n)1
    58.15(a)1    		 121891  NM_009764.21  NP_033894.21 
     AB2216105  AB2216115  (see all 20)
    About this table        Species with no ortholog for BRCA1

    ENSEMBL Gene Tree for BRCA1

    Paralogs
    for BRCA1

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    		  --

    SNPs/Variants
    for BRCA1

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    		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


    10/797 NCBI SNPs in BRCA1 are shown (see all 797 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 168)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs7999051,2
    		A,C,F,H,O38530713(+) CCCCCG/CTCAAA 11 -- int1 ng317Minor allele frequency- C:0.47MN EU EA WA NS 782
    rs17999661,2
    		A,C,F,H,O38476620(-) CCCAGA/GGTCCA 11 S/G mis1 int1 ese324Minor allele frequency- G:0.30MN CSAM EA NS EU WA NA 2518
    rs125161,2
    		A,C,F,H38449934(-) CCCCCC/TAGTGT 11 -- ut3110Minor allele frequency- T:0.33NS MN EU EA WA NA 1080
    rs7999171,2
    		A,C,F,H38498462(-) TGCTCC/TGTTTT 11 P/L mis1 int123Minor allele frequency- T:0.44EA MN CSAM NS EU WA 3736
    rs7999061,2
    		A,C,F,H38531642(+) TAGTCT/CTGTAA 11 -- ng316Minor allele frequency- C:0.45NS EU EA WA MN 596
    rs17999501,2
    		C,F,H,O38500007(-) TAAGCA/GGAAAC 11 Q/R mis1 int121Minor allele frequency- G:0.02MN CSAM EA EU WA NS 2254
    rs169421,2
    		C,F,H,O38497526(-) CCAGAA/GAGGAG 11 K/R mis1 int1 ese3 trp326Minor allele frequency- G:0.29MN EU EA WA CSAM NS NA 2518
    --
    rs49868521,2
    		C,F,H38497955(-) AGCCAG/ACTCAA 11 N/S mis1 int115Minor allele frequency- A:0.02MN CSAM EA NS EU WA 1566
    rs169411,2
    		C,F,H38497961(-) TAAAGA/GAGCCA 11 E/G mis1 int116Minor allele frequency- G:0.26MN CSAM EA NS EU WA 1648
    --
    rs30929951,2
    		C,F,H38451185(-) GACCCC/GAAGAA 11 -- ut31 ese39Minor allele frequency- G:0.03NS EU EA WA 1016
    About this table

    HapMap Linkage Disequilibrium images for BRCA1 (up to first 250kb)

    Disorders & Mutations
    for BRCA1

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

    		 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]

    • 10/95 Novoseek disease relationships for BRCA1 gene (see all 95 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian cancer 95.82 2056 10560359 (7), 9796975 (7), 10978226 (6), 17196508 (6) (see all 99)
    breast cancer 93.39 3648 15564800 (9), 11710890 (8), 11044354 (8), 17557253 (8) (see all 99)
    germ-line mutation 91.29 213 17001151 (4), 8875917 (4), 10969800 (3), 16085232 (3) (see all 99)
    prophylactic oophorectomy 90.93 56 15863145 (6), 10469748 (5), 9148160 (3), 12023993 (3) (see all 38)
    bilateral breast cancer 85.31 34 11556836 (3), 10573018 (2), 17557253 (2), 19372713 (2) (see all 21)
    cancer 82.18 906 14966099 (7), 12237281 (5), 10972993 (4), 12237282 (4) (see all 99)
    breast carcinoma 74.51 206 9840533 (5), 9241077 (4), 9699523 (4), 11859870 (3) (see all 99)
    fanconis anemia 73.47 22 12483114 (2), 12967657 (2), 16116421 (2), 15726604 (1) (see all 18)
    ovarian carcinoma 72.80 104 10686936 (5), 16284991 (4), 10388472 (3), 9661879 (3) (see all 61)
    tumors 72.42 1433 15868446 (10), 11773283 (8), 10686936 (8), 15712267 (7) (see all 99)
    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

    Human Gene Mutation Database: BRCA1
    Genetic Association Database: BRCA1
    Human Genome Epidemiology Navigator: BRCA1 (603 documents)
    Tumor Gene Database: BRCA1
    Breast Cancer Gene Database: BRCA1

    Medical News
    for BRCA1

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    Publications
    for BRCA1

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/2187 PubMed articles for BRCA1 gene (see all 2187 ):

    Search for BRCA1

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing BRCA1

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

    Other Databases showing BRCA1

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing BRCA1

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for BRCA1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=BRCA1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/brca1/

    Licensable Technologies
    for BRCA1

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for BRCA1

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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