Checkpoint Signaling and DNA Repair: BRCA1

		Technical Resources

		Technical Information

		Calbiochem Information

		Interactive Pathways

		Checkpoint Signaling & DNA Repair

Checkpoint Signaling and DNA Repair: BRCA1

�

BRCA1 Antibodies

�

BRCA1 Proteins/Enzymes

�

Additional Information

�

Protein : BRCA1

SwissProt Accessions | Entrez Gene links


Connectivity	493
Notes	BRCA1, 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.
Hugo ID	1100
Name	BRCA1
Description	breast cancer 1
URN	urn:agi-llid:672


GO Cellular Component	cytoplasm
	intracellular
	nucleus
	condensed chromosome
	ubiquitin ligase complex
	extracellular space
	gamma-tubulin ring complex
	transcription factor complex


Cell Localization	Nucleus


GO Biological Process	DNA repair
	carbohydrate metabolism
	dosage compensation, by inactivation of X chromosome
	negative regulation of cell cycle
	DNA damage response, signal transduction resulting in induction of apoptosis
	protein ubiquitination
	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
	negative regulation of centriole replication
	positive regulation of DNA repair
	regulation of apoptosis
	regulation of cell proliferation
	regulation of transcription from Pol II promoter
	regulation of transcription from Pol III promoter


State	isoform BRCA1-delta2-10
	isoform BRCA1-delta9-11
	isoform BRCA1-delta14-17
	isoform BRCA1-delta14-18
	isoform BRCA1-delta15-17
	isoform BRCA1-delta9-10
	isoform BRCA1-delta11
	isoform BRCA1-delta11b
	isoform BRCA1-delta9-10-11b
	isoform BRCA1-exon4


State Description	Transcript Variant: The BRCA1a transcript variant uses exon 1a, one of two 5' untranslated exons, for initiation of transcription. Exon 1a is the upstream exon of the two alternative 5' exons, the other is exon 1b. Exon 1a splices to exon 2 to form the...
	Transcript Variant: The BRCA1b transcript variant uses exon 1b, one of two 5' untranslated exons, for initiation of transcription. Exon 1b is the downstream exon of the two alternative 5' exons, the other is exon 1a. Exon 1b splices to exon 2 to form t...
	Transcript Variant: BRCA1a' lacks the last 6 bp of exon 1a. This truncated exon 1a' splices directly to exon 2. The coding region and translated protein are not affected. BRCA1a' encodes the full length BRCA1 protein.
	Transcript Variant: The BRCA1-delta2-10 variant is lacking exons 2 through 10. Exon 1a splices directly to exon 11. The coding region and translated protein are missing a portion of the 5' region, but this alternatively spliced transcript maintains the...
	Transcript Variant: The BRCA1-delta9-11 variant is lacking exons 9, 10 and 11. Exon 8 splices directly to exon 12. The coding region and translated protein lack an internal region of the full length transcript, but this alternatively spliced transcript...
	Transcript Variant: The BRCA1-delta14-17 variant is lacking exons 14 through 17. Exon 13 splices directly to exon 18. The coding region and translated protein lack an internal region of the full length transcript, but this alternatively spliced transcr...
	Transcript Variant: The BRCA1-delta14-18 variant is lacking exons 14 through 18. Exon 13 splices directly to exon 19. The coding region and translated protein lack an internal region of the full length transcript, but this alternatively spliced transcr...
	Transcript Variant: The BRCA1-delta15-17 variant is lacking exons 15 through 17. Exon 14 splices directly to exon 18. This alternatively spliced transcript fails to maintain the original reading frame, resulting in a frameshift mutation and a truncated...
	Transcript Variant: The BRCA1-delta9-10 variant is lacking exons 9 and 10. Exon 8 splices directly to exon 11. The coding region and translated protein lack an internal region of the full length transcript, but this alternatively spliced transcript mai...
	Transcript Variant: The BRCA1-delta11 variant is lacking exon 11 in its entirety. Exon 10 splices directly to exon 12. Since exon 11 encodes a significantly large portion of the BRCA1 protein, the coding region and translated protein lack a large inter...
	Transcript Variant: The BRCA1-delta11b variant utilizes an alternate splice site located within exon 11 resulting in a product lacking a significant portion of exon 11. Exon 11 encodes a large portion of the BRCA1 protein; this variant retains its firs...
	Transcript Variant: The BRCA1-delta9-10-11b variant is lacking exons 9 and 10 as well as the 3' portion of exon 11 (11b). Exon 8 splices directly to the 5' region of exon 11; this 5' region of exon 11, 118 bp, then splices directly to exon 12. Since ex...
	Transcript Variant: BRCA1-exon4 is a rarely expressed transcript containing exon 4 which is an Alu element. Insertion of exon 4 introduces a premature stop codon and results in a truncated BRCA1 protein. BRCA1 exons are normally numbered 1a, 1b, 2, 3, ...


MGI ID	104537


Swiss-Prot Accession�	P38398


OMIM ID	OMIM:113705


Alias	Brca1
	breast cancer 1
	PSCP
	RNF53
	BRC1
	BRCA1a
	breast cancer 1, early onset
	breast-ovarian cancer, included
	BRC1_HUMAN
	Breast cancer type 1 susceptibility protein
	BRC I
	Brca I
	breast cancer I
	isoform BRCA1-delta11
	isoform BRCA1-delta11b
	isoform BRCA1-delta14-17
	isoform BRCA1-delta14-18
	isoform BRCA1-delta15-17
	isoform BRCA1-delta2 X
	isoform BRCA1-delta2-10
	isoform BRCA1-delta9 X
	isoform BRCA1-delta9 XI
	isoform BRCA1-delta9-10
	isoform BRCA1-delta9-10-11b
	isoform BRCA1-delta9-11
	isoform BRCA1-exon4


Organism	Rattus norvegicus
	Mus musculus
	Human


Entrez ID�	24227
	12189
	672


RGD ID	2218


Pathway	ATM signaling
	DNA Repair


Unigene ID	Rn.48840
	Mm.244975
	Hs.194143


Group	Transcription factors
	protein binding
	nucleic acid binding
	metal ion binding

�

top of page