Brca1 breast cancer 1, early onset [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Brca1provided by MGI
Official Full Name: breast cancer 1, early onsetprovided by MGI
Primary source: MGI:MGI:104537
See related: Ensembl:ENSMUSG00000017146 AllianceGenome:MGI:104537
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables DNA-binding transcription activator activity; damaged DNA binding activity; and transcription cis-regulatory region binding activity. Involved in double-strand break repair and positive regulation of transcription by RNA polymerase II. Acts upstream of with a positive effect on negative regulation of gene expression via chromosomal CpG island methylation. Acts upstream of or within several processes, including centrosome cycle; mitotic G2/M transition checkpoint; and random inactivation of X chromosome. Located in chromosome; cytoplasm; and male germ cell nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and integumental system. Used to study breast cancer; hereditary breast ovarian cancer syndrome; and ovarian cancer. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia complementation group S; breast cancer (multiple); cervix uteri carcinoma in situ; gastrointestinal system cancer (multiple); and reproductive organ cancer (multiple). Orthologous to human BRCA1 (BRCA1 DNA repair associated). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver E14 (RPKM 5.9), CNS E11.5 (RPKM 5.7) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 65.18 cM; 11 D

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (101379587..101442808, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (101488761..101551955, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Conditional loss of Brca1 in oocytes causes reduced litter size, ovarian reserve depletion and impaired oocyte in vitro maturation with advanced reproductive age in mice.
Title: Conditional loss of Brca1 in oocytes causes reduced litter size, ovarian reserve depletion and impaired oocyte in vitro maturation with advanced reproductive age in mice.
BRCA Status Dictates Wnt Responsiveness in Epithelial Ovarian Cancer.
Title: BRCA Status Dictates Wnt Responsiveness in Epithelial Ovarian Cancer.
DOT1L-mediated RAP80 methylation promotes BRCA1 recruitment to elicit DNA repair.
Title: DOT1L-mediated RAP80 methylation promotes BRCA1 recruitment to elicit DNA repair.
Knockout of Brca1-interacting factor Ola1 in female mice induces tumors with estrogen suppressible centrosome amplification.
Title: Knockout of Brca1-interacting factor Ola1 in female mice induces tumors with estrogen suppressible centrosome amplification.
GATA3 functions downstream of BRCA1 to promote DNA damage repair and suppress dedifferentiation in breast cancer.
Title: GATA3 functions downstream of BRCA1 to promote DNA damage repair and suppress dedifferentiation in breast cancer.
BRCA1 protein dose-dependent risk for embryonic oxidative DNA damage, embryopathies and neurodevelopmental disorders with and without ethanol exposure.
Title: BRCA1 protein dose-dependent risk for embryonic oxidative DNA damage, embryopathies and neurodevelopmental disorders with and without ethanol exposure.
Conditional in vivo deletion of LYN kinase has little effect on a BRCA1 loss-of-function-associated mammary tumour model.
Title: Conditional in vivo deletion of LYN kinase has little effect on a BRCA1 loss-of-function-associated mammary tumour model.
Exploiting Synthetic Lethality between Germline BRCA1 Haploinsufficiency and PARP Inhibition in JAK2V617F-Positive Myeloproliferative Neoplasms.
Title: Exploiting Synthetic Lethality between Germline BRCA1 Haploinsufficiency and PARP Inhibition in JAK2V617F-Positive Myeloproliferative Neoplasms.
RNF8 ubiquitylation of XRN2 facilitates R-loop resolution and restrains genomic instability in BRCA1 mutant cells.
Title: RNF8 ubiquitylation of XRN2 facilitates R-loop resolution and restrains genomic instability in BRCA1 mutant cells.
Deubiquitinase BAP1 regulates stability of BRCA1 protein and inactivates the NF-kappaB signaling to protect mice from sepsis-induced acute kidney injury.
Title: Deubiquitinase BAP1 regulates stability of BRCA1 protein and inactivates the NF-κB signaling to protect mice from sepsis-induced acute kidney injury.

Submit: New GeneRIF Correction See all GeneRIFs (180)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Targeted (27) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

U36475 (e-PCR)
- UniSTS:125734

Brca1 (e-PCR), detects polymorphism
- UniSTS:547192

Brca1 (e-PCR), detects polymorphism
- UniSTS:141186

Brca1 (e-PCR), detects polymorphism
- UniSTS:141187

U36475 (e-PCR)
- UniSTS:160164

D11Mit200 (e-PCR), detects polymorphism
- UniSTS:126401

Brca1 (e-PCR), detects polymorphism
- UniSTS:548052

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity	ISO Inferred from Sequence Orthology more info
enables RNA binding	ISO Inferred from Sequence Orthology more info	PubMed
enables RNA polymerase binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables damaged DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables p53 binding	IEA Inferred from Electronic Annotation more info
enables p53 binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA strand resection involved in replication fork processing	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to indole-3-methanol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to indole-3-methanol	ISO Inferred from Sequence Orthology more info
involved_in cellular response to ionizing radiation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within centrosome cycle	IGI Inferred from Genetic Interaction more info	PubMed
involved_in centrosome duplication	TAS Traceable Author Statement more info	PubMed
involved_in chordate embryonic development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chordate embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in homologous recombination	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	ISO Inferred from Sequence Orthology more info	PubMed
involved_in mitotic G2 DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic G2 DNA damage checkpoint signaling	IEA Inferred from Electronic Annotation more info
involved_in mitotic G2 DNA damage checkpoint signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitotic G2/M transition checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G2/M transition checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of fatty acid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of fatty acid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_positive_effect negative regulation of gene expression via chromosomal CpG island methylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_positive_effect negative regulation of gene expression via chromosomal CpG island methylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of intracellular estrogen receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of intracellular estrogen receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of reactive oxygen species metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA repair	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA repair	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein import into nucleus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vascular endothelial growth factor production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular endothelial growth factor production	ISO Inferred from Sequence Orthology more info
involved_in postreplication repair	IEA Inferred from Electronic Annotation more info
involved_in postreplication repair	ISO Inferred from Sequence Orthology more info
involved_in protein K6-linked ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein K6-linked ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autoubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein autoubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within random inactivation of X chromosome	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of DNA damage checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of regulation of cell cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to ionizing radiation	ISO Inferred from Sequence Orthology more info
involved_in sex-chromosome dosage compensation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of BRCA1-A complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BRCA1-A complex	ISO Inferred from Sequence Orthology more info
part_of BRCA1-A complex	NAS Non-traceable Author Statement more info	PubMed
part_of BRCA1-B complex	ISO Inferred from Sequence Orthology more info
part_of BRCA1-BARD1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BRCA1-BARD1 complex	ISO Inferred from Sequence Orthology more info
part_of BRCA1-BARD1 complex	ISS Inferred from Sequence or Structural Similarity more info
part_of BRCA1-C complex	ISO Inferred from Sequence Orthology more info
part_of DNA repair complex	IEA Inferred from Electronic Annotation more info
part_of DNA repair complex	ISO Inferred from Sequence Orthology more info
located_in XY body	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	TAS Traceable Author Statement more info	PubMed
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in condensed chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in condensed nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in intracellular membraneless organelle	ISO Inferred from Sequence Orthology more info
located_in lateral element	ISO Inferred from Sequence Orthology more info	PubMed
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	ISO Inferred from Sequence Orthology more info
located_in nuclear body	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
part_of nuclear ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
part_of ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: breast cancer type 1 susceptibility protein homolog

Names: RING-type E3 ubiquitin transferase BRCA1; breast and ovarian cancer susceptibility protein; breast cancer associated 1

NP_033894.3

EC 2.3.2.27

XP_006532127.1

EC 2.3.2.27

XP_006532131.1

EC 2.3.2.27

XP_030101355.1

EC 2.3.2.27

XP_036012146.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009764.3 → NP_033894.3 breast cancer type 1 susceptibility protein homolog

See identical proteins and their annotated locations for NP_033894.3

Status: VALIDATED

Source sequence(s)

AB221610, AB221611, BB662609, BC068303, U36475

Consensus CDS

CCDS25474.1

UniProtKB/Swiss-Prot

A2A4Q4, P48754, Q60957, Q60983

UniProtKB/TrEMBL

Q6NV63

Related

ENSMUSP00000017290.5, ENSMUST00000017290.11

Conserved Domains (5) summary

TIGR00599
Location:15 → 172

rad18; DNA repair protein rad18

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17721
Location:1700 → 1797

BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17735
Location:1593 → 1689

BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

pfam12820
Location:342 → 503

BRCT_assoc; Serine-rich domain associated with BRCT

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

101379587..101442808 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532068.4 → XP_006532131.1 breast cancer type 1 susceptibility protein homolog isoform X4

Conserved Domains (4) summary

TIGR00599
Location:15 → 172

rad18; DNA repair protein rad18

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17721
Location:595 → 692

BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17735
Location:488 → 584

BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
XM_006532064.5 → XP_006532127.1 breast cancer type 1 susceptibility protein homolog isoform X2

UniProtKB/TrEMBL

Q6NV63

Conserved Domains (5) summary

TIGR00599
Location:15 → 172

rad18; DNA repair protein rad18

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17721
Location:1655 → 1752

BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17735
Location:1548 → 1644

BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

pfam12820
Location:342 → 503

BRCT_assoc; Serine-rich domain associated with BRCT
XM_036156253.1 → XP_036012146.1 breast cancer type 1 susceptibility protein homolog isoform X3

UniProtKB/TrEMBL

Q6NV63

Conserved Domains (3) summary

cd17721
Location:1653 → 1750

BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17735
Location:1546 → 1642

BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

pfam12820
Location:295 → 456

BRCT_assoc; Serine-rich domain associated with BRCT
XM_030245495.2 → XP_030101355.1 breast cancer type 1 susceptibility protein homolog isoform X1

UniProtKB/Swiss-Prot

A2A4Q4, P48754, Q60957, Q60983

UniProtKB/TrEMBL

Q6NV63

Conserved Domains (5) summary

TIGR00599
Location:15 → 172

rad18; DNA repair protein rad18

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17721
Location:1700 → 1797

BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17735
Location:1593 → 1689

BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

pfam12820
Location:342 → 503

BRCT_assoc; Serine-rich domain associated with BRCT