Brca1 BRCA1, DNA repair associated [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Brca1provided by RGD
Official Full Name: BRCA1, DNA repair associatedprovided by RGD
Primary source: RGD:2218
See related: EnsemblRapid:ENSRNOG00000020701 AllianceGenome:RGD:2218
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: BRCA-1
Summary: Enables chromatin binding activity. Involved in several processes, including positive regulation of protein import into nucleus; response to estradiol; and response to genistein. Located in mitochondrial matrix. Biomarker of ductal carcinoma in situ. 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 Thymus (RPKM 83.6), Spleen (RPKM 54.5) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q31

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (86917693..86978012, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (86417441..86477762, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (89394821..89455093, complement)

Chromosome 10 - NC_086028.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BRCA1 offers prominent functional roles in neurons and glial cells including key support for their physical and molecular integrity.
Title: A BRCA1-Dependent DNA Damage Response in the Regenerating Adult Peripheral Nerve Milieu.
Study indicates that alterations in the localization of BRCA1 protein occur in preneoplastic lesions of the DMBA-rat model of mammary gland carcinogenesis. While no change in the level of BRCA1 protein was detected, its translocation from the cytoplasm to nucleus is blocked during breast cancer progression.
Title: Genetic polymorphisms and protein expression of P53 and BRCA1 in preneoplastic and neoplastic rat mammary glands.
NPR3 protects cardiomyocytes from apoptosis through inhibition of cytosolic BRCA1 and TNF-alpha, which are regulators of apoptosis.
Title: NPR3 protects cardiomyocytes from apoptosis through inhibition of cytosolic BRCA1 and TNF-α.
Promoter regions of Brca1 are modified by soy estrogens in prostate cancer cells.
Title: Soy phytoestrogens modify DNA methylation of GSTP1, RASSF1A, EPH2 and BRCA1 promoter in prostate cancer cells.
Akt prevents the translocation of BRCA1 to DNA damage foci and, thereby, inhibits the activation of Chk1 following DNA damage
Title: Akt activation emulates Chk1 inhibition and Bcl2 overexpression and abrogates G2 cell cycle checkpoint by inhibiting BRCA1 foci.
Pubertal physical activity up-regulates tumor suppressor genes BRCA1, p53 and ER-beta, and reduced ER-alpha/ER-beta ratio in the mammary gland
Title: Prepubertal physical activity up-regulates estrogen receptor beta, BRCA1 and p53 mRNA expression in the rat mammary gland.
Data show that knockdown of BRCA1 inhibited nuclear translocation of the vitamin D receptor and the ability of 1alpha,25(OH)(2)D(3) to induce the VDR.
Title: Prolactin blocks nuclear translocation of VDR by regulating its interaction with BRCA1 in osteosarcoma cells.
Structure of the human 53BP1 BRCT region bound to p53 and its comparison to the rat Brca1 BRCT structure is presented.
Title: Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure.
BRCA-1 is present in embryonic and adult rat neural stem cell (NSC) and that the expression is linked to NSC proliferation.
Title: Tumor suppressor gene BRCA-1 is expressed by embryonic and adult neural stem cells and involved in cell proliferation.

Submit: New GeneRIF Correction

General gene information

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Markers

D10Arb30 (e-PCR)
- UniSTS:239689

D10Chm56 (e-PCR)
- UniSTS:518353

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
enables RNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase binding	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
enables damaged DNA binding	ISO Inferred from Sequence Orthology more info
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IEA Inferred from Electronic Annotation more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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	ISO Inferred from Sequence Orthology more info
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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
involved_in centrosome cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within centrosome cycle	ISO Inferred from Sequence Orthology more info
involved_in chordate embryonic development	IBA Inferred from Biological aspect of Ancestor more info
involved_in chordate embryonic development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chordate embryonic development	ISO Inferred from Sequence Orthology more info
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	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 intrinsic apoptotic signaling pathway in response to DNA damage	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
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	IEA Inferred from Electronic Annotation 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
involved_in negative regulation of gene expression via chromosomal CpG island methylation	IEA Inferred from Electronic Annotation more info
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 gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
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	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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
involved_in random inactivation of X chromosome	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within random inactivation of X chromosome	ISO Inferred from Sequence Orthology more info
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 estradiol	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to genistein	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to ionizing radiation	ISO Inferred from Sequence Orthology more info
involved_in response to lipid	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to nutrient	IEP Inferred from Expression Pattern more info	PubMed
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	IEA Inferred from Electronic Annotation more info
part_of BRCA1-A complex	ISO Inferred from Sequence Orthology more info
part_of BRCA1-B complex	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
located_in XY body	ISO Inferred from Sequence Orthology more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome	ISO Inferred from Sequence Orthology more info
located_in chromosome	ISS Inferred from Sequence or Structural Similarity more info
located_in condensed chromosome	ISO Inferred from Sequence Orthology more info
located_in condensed nuclear chromosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
located_in lateral element	ISO Inferred from Sequence Orthology more info
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in male germ cell nucleus	ISO Inferred from Sequence Orthology more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
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 nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
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
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info
part_of ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: breast cancer type 1 susceptibility protein homolog

Names: RING-type E3 ubiquitin transferase BRCA1; breast cancer 1, early onset

NP_036646.2

EC 2.3.2.27

XP_008766314.1

EC 2.3.2.27

XP_038942469.1

EC 2.3.2.27

XP_038942470.1

EC 2.3.2.27

XP_063125653.1

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_012514.2 → NP_036646.2 breast cancer type 1 susceptibility protein homolog

Status: VALIDATED

Source sequence(s)

JAXUCZ010000010

UniProtKB/Swiss-Prot

O54952, P97951

UniProtKB/TrEMBL

A6HJD2, G3V8S5

Related

ENSRNOP00000099541.1, ENSRNOT00000161138.1

Conserved Domains (4) summary

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:1703 → 1800

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

cd17735
Location:1596 → 1692

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

pfam12820
Location:343 → 504

BRCT_assoc; Serine-rich domain associated with BRCT

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086028.1 Reference GRCr8

Range

86917693..86978012 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063269583.1 → XP_063125653.1 breast cancer type 1 susceptibility protein homolog isoform X2
XM_008768092.4 → XP_008766314.1 breast cancer type 1 susceptibility protein homolog isoform X1

See identical proteins and their annotated locations for XP_008766314.1

UniProtKB/Swiss-Prot

O54952, P97951

UniProtKB/TrEMBL

A6HJD2, G3V8S5

Conserved Domains (4) summary

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:1703 → 1800

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

cd17735
Location:1596 → 1692

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

pfam12820
Location:343 → 504

BRCT_assoc; Serine-rich domain associated with BRCT
XM_039086541.2 → XP_038942469.1 breast cancer type 1 susceptibility protein homolog isoform X1

UniProtKB/Swiss-Prot

O54952, P97951

UniProtKB/TrEMBL

A6HJD2, G3V8S5

Conserved Domains (4) summary

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:1703 → 1800

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

cd17735
Location:1596 → 1692

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

pfam12820
Location:343 → 504

BRCT_assoc; Serine-rich domain associated with BRCT
XM_039086542.2 → XP_038942470.1 breast cancer type 1 susceptibility protein homolog isoform X3

UniProtKB/TrEMBL

A0A0G2K2T3

Related

ENSRNOP00000028109.4, ENSRNOT00000028109.5

Conserved Domains (3) summary

cd16498
Location:18 → 65

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

pfam12820
Location:343 → 504

BRCT_assoc; Serine-rich domain associated with BRCT

cl00038
Location:1596 → 1676

BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains