Human

Human Prostate Gene DataBase
Name breast cancer 1, early onset
Symbol BRCA1
Aliases PSCP; breast-ovarian cancer, included
Gene Product
  • breast cancer 1, early onset isoform BRCA1-exon4
  • breast cancer 1, early onset isoform BRCA1-delta14-18
  • breast cancer 1, early onset isoform BRCA1-delta14-17
  • breast cancer 1, early onset isoform BRCA1-delta9-11
  • breast cancer 1, early onset isoform BRCA1-delta15-17
  • breast cancer 1, early onset isoform BRCA1-delta2-10
  • breast cancer 1, early onset isoform BRCA1-delta11b
  • breast cancer 1, early onset
  • breast cancer 1, early onset isoform BRCA1-delta9-10-11b
  • breast cancer 1, early onset isoform BRCA1-delta11
  • breast cancer 1, early onset isoform BRCA1-delta9-10
Category
  • Gross deletion in Prostate cancer
  • Mutation in Prostate cancer
UniGeneHs.194143
OMIM113705
Locus672
SummaryBRCA1, which functions as a tumor suppressor in human breast cancer cells, is a nuclear phosphoprotein which associates with RNA polymerase II holoenzyme. Mutations in BRCA1 are predicted to be responsible for approximately 45% of inherited breast cancer and more than 80% of inherited breast and ovarian cancer. BRCA1 may function as a transcriptional regulator, due to an amino terminal DNA-binding ring finger motif, nuclear localization signals, and an acidic carboxy terminal domain. BRCA1 is also a granin-like protein that functions as a secreted growth inhibitory protein. BRCA1 may normally serve as a negative regulator of mammary epithelial cell growth. This function is compromised in breast cancer either by direct mutation or by alterations in gene expression. BRCA1 participates in transcription-coupled repair of oxidative DNA damage. BRCA1 spans an 81-kb region of human chromosome 17, and consists of 24 exons, 22 of which are coding exons. The BRCA1 genomic sequence has an unusually high density of Alu repetitive DNA (41.5%), but a relatively low density (4.8%) of other repetitive sequences. BRCA1 intron lengths ranged in size from 403 bp to 9.2 kb and contain 3 intragenic microsatellite markers located in introns 12, 19, and 20. Other genes have been localized close to BRCA1 on chromosome 17. The order of genes on the chromosome is: centromere-IFP35-VAT1-RHO7-BRCA1-M17S2-telomere. Alternative splicing may play a significant role in modulating the subcellular localization and physiological function of BRCA1.
Gene Ontology
Expression
EST (77 ESTs, 57 libraries)
Tissue ? Frequency ? Count ?
adrenal gland (1/15)0.001 1/17521
brain (2/204)0.001 2/362011
cervix (1/7)0.001 1/28115
colon (4/853)0.100 5/165626
intestine (1/4)0.001 1/11528
kidney (2/86)0.001 3/132968
lung (4/312)0.000 5/245386
mammary gland (1/1)0.003 1/2313
muscle (2/21)0.001 3/71297
oral cavity (1/18)0.001 4/44567
ovary (2/144)0.001 2/81880
pancreas (1/33)0.000 1/117255
placenta (1/342)0.000 1/157762
prostate (3/291)0.002 3/109871
skin (3/31)0.014 5/100815
stomach (2/312)0.001 3/129930
testis (4/171)0.004 7/117531
uncharacterized tissue (17/1773)1.000 24/713325
uterus (4/212)0.000 4/155110
SAGE (15569409 tags, 316 libraries)
Tissue ? Frequency ? Count ?
blood (1/1)0.045 1/48523
brain (19/19)0.503 164/3331434
cerebellum (1/1)0.258 4/102560
colon (8/8)0.607 80/1587398
eye (6/6)0.242 23/1028057
foreskin (1/2)0.301 1/9759
heart (1/1)0.418 12/253071
kidney (2/2)0.545 15/189727
liver (1/1)1.000 17/200583
lung (1/1)0.668 15/356572
mammary gland (18/19)0.667 120/1926517
muscle (2/2)0.348 13/323184
ovary (10/10)0.557 54/852585
pancreas (8/8)0.686 69/616403
prostate (13/13)0.491 96/1447740
skin (5/7)0.593 15/177566
stomach (3/3)0.251 14/496328
uncharacterized tissue (20/22)0.554 126/2108303
vascular (3/3)0.399 28/513099
SNPrs3092986 (C/G:mrna-utr);  rs799901 (A/G:locus-region);  rs966018 (T/G:intron);  rs2227945 (A/G:coding-nonsyn);  rs2236762 (T/A:intron);  rs1799736 (-/T:intron);  rs2883816 (C/G:intron);  rs1799949 (A/G:coding-nonsyn);  rs1709440 (C/G:intron);  rs16940 (A/G:coding-nonsyn);  rs1793979 (A/C:intron);  rs808955 (T/A:intron);  rs2187603 (G/A:intron);  rs1800704 (C/T:coding-nonsyn);  rs1800062 (G/T:coding-nonsyn);  rs2355955 (A/C:intron);  rs1060920 (T/A:mrna-utr);  rs2070833 (A/C:intron);  rs2671874 (A/G:intron);  rs709630 (A/T:intron);  rs2854689 (G/A:intron);  rs799911 (T/A:intron);  rs1800726 (T/C:coding-nonsyn);  rs12516 (C/T:mrna-utr);  rs1709432 (A/G:intron);  
EvidenceGross deletion in Prostate cancer Mutation in Prostate cancer
© 2002, PGDB, All Rights Reserved.
Department of Urology
Universityof California, San Francisco