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


RefSeq Accession Definition Services Price Order
NM_007294 Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA. ORF Sequence $2516.40
Peptide Services
Antibody Services
Protein Services
NM_007297 Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 3, mRNA. ORF Sequence $2452.95
Peptide Services
Antibody Services
Protein Services
NM_007298 Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 4, mRNA. ORF Sequence $661.20
Peptide Services
Antibody Services
Protein Services
NM_007299 Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 5, mRNA. ORF Sequence $609.00
Peptide Services
Antibody Services
Protein Services
NM_007300 Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 2, mRNA. ORF Sequence $2544.75
Peptide Services
Antibody Services
Protein Services


Gene Symbol BRCA1
Entrez Gene ID 672
Full Name breast cancer 1, early onset
Synonyms BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PSCP, RNF53
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 Full Length $3250.80
ORF Sequence $2516.40
NM_007297, 237681120 NP_009228, 237681121 breast cancer type 1 susceptibility protein isoform 3 Full Length $3209.40
ORF Sequence $2452.95
NM_007298, 237681122 NP_009229, 237681123 breast cancer type 1 susceptibility protein isoform 4 Full Length $1294.65
ORF Sequence $661.20
NM_007299, 237681124 NP_009230, 237681125 breast cancer type 1 susceptibility protein isoform 5 Full Length $1330.00
ORF Sequence $609.00
NM_007300, 237681118 NP_009231, 237681119 breast cancer type 1 susceptibility protein isoform 2 Full Length $3279.15
ORF Sequence $2544.75
KEGG
hsa03460Fanconi anemia pathway
hsa04120Ubiquitin mediated proteolysis
hsa04151PI3K-Akt signaling pathway
hsa_M00295BRCA1-associated genome surveillance complex (BASC)
Pathway Interaction Database
bard1pathwayBARD1 signaling events
atf2_pathwayATF-2 transcription factor network
aurora_a_pathwayAurora A signaling
myc_represspathwayValidated targets of C-MYC transcriptional repression
e2f_pathwayE2F transcription factor network
hnf3apathwayFOXA1 transcription factor network
ar_pathwayCoregulation of Androgen receptor activity
WikiPathways
WP2377Integrated Pancreatic Cancer Pathway
WP1971Integrated Cancer pathway
WP2256Integrated Pancreatic Cancer Pathway
WP1984Integrated Breast Cancer Pathway
WP707DNA damage response
WP138Androgen receptor signaling pathway
WP2261Signaling Pathways in Glioblastoma
Reactome
REACT_2054Double-Strand Break Repair
REACT_97Recruitment of repair and signaling proteins to double-strand breaks
REACT_216DNA Repair
REACT_18410Fanconi Anemia pathway
REACT_27271Meiotic Recombination
REACT_204ATM mediated response to DNA double-strand break
REACT_115566Cell Cycle
REACT_75792Meiotic Synapsis
REACT_1874Homologous Recombination Repair
REACT_22172Chromosome Maintenance
REACT_1587Homologous recombination repair of replication-independent double-strand breaks
REACT_1924ATM mediated phosphorylation of repair proteins
REACT_111183Meiosis
Homo sapiens (human)BRCA1NP_009225.1
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
GeneCards BRCA1
PDB 2ING, 1T2V, 3K0H, 1JNX, 1OQA, 1T29, 3PXA, 3K15, 3K0K, 3PXC, 3PXD, 1JM7, 1Y98, 3PXE, 3COJ, 3K16, 1T15, 1T2U, 1N5O, 3PXB
UniProt E7ETR2, E9PFZ0, Q1RMC1, E9PFC7, P38398
MIM 113705
Ensembl ENSG00000012048
HGNC 1100
HPRD 00218

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

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

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