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BRCA1 breast cancer 1, early onset [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_007294 Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_007297 Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_007298 Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_007299 Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_007300 Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_006722029 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_006722030 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_006722031 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_006722032 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_006722033 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_006722034 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_006722035 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_006722036 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_006722037 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X9, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006722038 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X10, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006722039 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X11, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006722040 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X12, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006722041 PREDICTED: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant X13, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

Gene Symbol BRCA1
Entrez Gene ID 672
Full Name breast cancer 1, early onset
Synonyms BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PPP1R53, PSCP, RNF53
General protein information
Preferred Names
breast cancer type 1 susceptibility protein
Names
breast cancer type 1 susceptibility protein
RING finger protein 53
BRCA1/BRCA2-containing complex, subunit 1
protein phosphatase 1, regulatory subunit 53
breast and ovarian cancer susceptibility protein 1
breast and ovarian cancer sususceptibility protein 1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q21

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].
Disorder

MIM: 113705

{Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer,

mRNA Protein Product Sequence Price Select
NM_007294, 237757283 NP_009225, 6552299 breast cancer type 1 susceptibility protein isoform 1 ORF Sequence $2500.00
NM_007297, 237681120 NP_009228, 237681121 breast cancer type 1 susceptibility protein isoform 3 ORF Sequence $2500.00
NM_007298, 237681122 NP_009229, 237681123 breast cancer type 1 susceptibility protein isoform 4 ORF Sequence $700.00
NM_007299, 237681124 NP_009230, 237681125 breast cancer type 1 susceptibility protein isoform 5 ORF Sequence $700.00
NM_007300, 237681118 NP_009231, 237681119 breast cancer type 1 susceptibility protein isoform 2 ORF Sequence $2500.00
XM_006722029, 578831286 XP_006722092, 578831287 breast cancer type 1 susceptibility protein isoform X1 ORF Sequence $2500.00
XM_006722030, 578831288 XP_006722093, 578831289 breast cancer type 1 susceptibility protein isoform X2 ORF Sequence $2500.00
XM_006722031, 578831290 XP_006722094, 578831291 breast cancer type 1 susceptibility protein isoform X3 ORF Sequence $2500.00
XM_006722032, 578831292 XP_006722095, 578831293 breast cancer type 1 susceptibility protein isoform X4 ORF Sequence $2500.00
XM_006722033, 578831294 XP_006722096, 578831295 breast cancer type 1 susceptibility protein isoform X5 ORF Sequence $2500.00
XM_006722034, 578831296 XP_006722097, 578831297 breast cancer type 1 susceptibility protein isoform X6 ORF Sequence $2500.00
XM_006722035, 578831298 XP_006722098, 578831299 breast cancer type 1 susceptibility protein isoform X7 ORF Sequence $2500.00
XM_006722036, 578831300 XP_006722099, 578831301 breast cancer type 1 susceptibility protein isoform X8 ORF Sequence $2500.00
XM_006722037, 578831302 XP_006722100, 578831303 breast cancer type 1 susceptibility protein isoform X9 ORF Sequence $700.00
XM_006722038, 578831304 XP_006722101, 578831305 breast cancer type 1 susceptibility protein isoform X10 ORF Sequence $700.00
XM_006722039, 578831306 XP_006722102, 578831307 breast cancer type 1 susceptibility protein isoform X11 ORF Sequence $700.00
XM_006722040, 578831308 XP_006722103, 578831309 breast cancer type 1 susceptibility protein isoform X12 ORF Sequence $700.00
XM_006722041, 578831310 XP_006722104, 578831311 breast cancer type 1 susceptibility protein isoform X13 ORF Sequence $700.00
KEGG
hsa04120Ubiquitin mediated proteolysis
hsa03460Fanconi anemia pathway
hsa_M00295BRCA1-associated genome surveillance complex (BASC)
hsa04151PI3K-Akt signaling pathway
hsa05206MicroRNAs in cancer
WikiPathways
WP707DNA damage response
WP138Androgen receptor signaling pathway
WP1984Integrated Breast Cancer Pathway
WP2377Integrated Pancreatic Cancer Pathway
WP2261Signaling Pathways in Glioblastoma
WP1971Integrated Cancer pathway
WP2263Prostate Cancer
Pathway Interaction Database
aurora_a_pathwayAurora A signaling
atf2_pathwayATF-2 transcription factor network
bard1pathwayBARD1 signaling events
hnf3apathwayFOXA1 transcription factor network
e2f_pathwayE2F transcription factor network
ar_pathwayCoregulation of Androgen receptor activity
myc_represspathwayValidated targets of C-MYC transcriptional repression
Reactome
REACT_216DNA Repair
REACT_1587Homologous recombination repair of replication-independent double-strand breaks
REACT_204ATM mediated response to DNA double-strand break
REACT_18410Fanconi Anemia pathway
REACT_97Recruitment of repair and signaling proteins to double-strand breaks
REACT_2054Double-Strand Break Repair
REACT_1874Homologous Recombination Repair
REACT_1924ATM mediated phosphorylation of repair proteins
REACT_27271Meiotic recombination
REACT_111183Meiosis
REACT_75792Meiotic synapsis
REACT_115566Cell Cycle
Homo sapiens (human)BRCA1NP_009231.2
Pan troglodytes (chimpanzee)BRCA1NP_001038958.1
Macaca mulatta (Rhesus monkey)BRCA1NP_001108421.1
Canis lupus familiaris (dog)BRCA1NP_001013434.1
Bos taurus (cattle)BRCA1NP_848668.1
Mus musculus (house mouse)Brca1NP_033894.3
Rattus norvegicus (Norway rat)Brca1NP_036646.1
Gallus gallus (chicken)BRCA1NP_989500.1
Process
IDNameEvidence
GO:0000724double-strand break repair via homologous recombinationIDA
GO:0000724double-strand break repair via homologous recombinationTAS
GO:0006281DNA repairTAS
GO:0006301postreplication repairIDA
GO:0006302double-strand break repairIMP
GO:0006302double-strand break repairTAS
GO:0006357regulation of transcription from RNA polymerase II promoterTAS
GO:0006359regulation of transcription from RNA polymerase III promoterTAS
GO:0006633fatty acid biosynthetic processIEA
GO:0006915apoptotic processTAS
GO:0006974cellular response to DNA damage stimulusTAS
GO:0006978DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorTAS
GO:0007059chromosome segregationIMP
GO:0008630intrinsic apoptotic signaling pathway in response to DNA damageIDA
GO:0010212response to ionizing radiationIMP
GO:0016567protein ubiquitinationIDA
GO:0030521androgen receptor signaling pathwayNAS
GO:0031398positive regulation of protein ubiquitinationIDA
GO:0031572G2 DNA damage checkpointIMP
GO:0034446substrate adhesion-dependent cell spreadingIDA
GO:0035066positive regulation of histone acetylationIDA
GO:0042127regulation of cell proliferationTAS
GO:0042981regulation of apoptotic processTAS
GO:0043627response to estrogenIDA
GO:0045717negative regulation of fatty acid biosynthetic processIMP
GO:0045739positive regulation of DNA repairIMP
GO:0045892negative regulation of transcription, DNA-templatedIDA
GO:0045893positive regulation of transcription, DNA-templatedNAS
GO:0045893positive regulation of transcription, DNA-templatedTAS
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIMP
GO:0046600negative regulation of centriole replicationNAS
GO:0051571positive regulation of histone H3-K4 methylationIDA
GO:0051573negative regulation of histone H3-K9 methylationIDA
GO:0051865protein autoubiquitinationIDA
GO:0070512positive regulation of histone H4-K20 methylationIDA
GO:0071158positive regulation of cell cycle arrestIDA
GO:0071681cellular response to indole-3-methanolIDA
GO:0085020protein K6-linked ubiquitinationIDA
GO:2000145regulation of cell motilityIDA
GO:2000617positive regulation of histone H3-K9 acetylationIDA
GO:2000620positive regulation of histone H4-K16 acetylationIDA
Component
IDNameEvidence
GO:0000151ubiquitin ligase complexNAS
GO:0001726ruffleIDA
GO:0005634nucleusIDA
GO:0005654nucleoplasmTAS
GO:0005694chromosomeISS
GO:0005737cytoplasmIDA
GO:0005886plasma membraneIDA
GO:0005925focal adhesionIDA
GO:0008274gamma-tubulin ring complexNAS
GO:0030529ribonucleoprotein complexIDA
GO:0031436BRCA1-BARD1 complexIDA
GO:0031941filamentous actinIDA
GO:0043234protein complexIDA
GO:0070531BRCA1-A complexIDA
Function
IDNameEvidence
GO:0003677DNA bindingTAS
GO:0003713transcription coactivator activityNAS
GO:0003723RNA bindingIDA
GO:0004842ubiquitin-protein transferase activityIDA
GO:0004842ubiquitin-protein transferase activityIDA
GO:0005515protein bindingIPI
GO:0008270zinc ion bindingIEA
GO:0015631tubulin bindingNAS
GO:0016874ligase activityIEA
GO:0019899enzyme bindingIPI
GO:0031625ubiquitin protein ligase bindingIPI
GO:0044212transcription regulatory region DNA bindingIDA
GO:0050681androgen receptor bindingNAS
GeneCards BRCA1
UniProt E9PFZ0, Q1RMC1, E9PFC7, P38398
Vega OTTHUMG00000157426
MIM 113705
Ensembl ENSG00000012048
HGNC 1100
HPRD 00218

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the BRCA1 gene?

The BRCA1 gene belongs to a class of genes known as tumor suppressor genes. Like many other tumor suppressors, the protein produced from the BRCA1 gene helps prevent cells from growing and dividing too rapidly or in an uncontrolled way.

The BRCA1 gene provides instructions for making a protein that is directly involved in repairing damaged DNA. In the nucleus of many types of normal cells, the BRCA1 protein interacts with several other proteins, including the proteins produced from the RAD51 and BARD1 genes, to mend breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and also occur when chromosomes exchange genetic material in preparation for cell division. By helping repair DNA, BRCA1 plays a role in maintaining the stability of a cell's genetic information.

Research suggests that the BRCA1 protein also regulates the activity of other genes and plays a critical role in embryonic development. To carry out these functions, the BRCA1 protein interacts with many other proteins, including other tumor suppressors and proteins that regulate cell division.

Interactant

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