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Protein Coding Gene : Brca1 breast cancer 1, early onset

Primary Identifier  MGI:104537 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  12189
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

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 breast cancer (multiple); cervix uteri carcinoma in situ; gastrointestinal system cancer (multiple); hereditary breast ovarian cancer syndrome; and reproductive organ cancer (multiple). Orthologous to human BRCA1 (BRCA1 DNA repair associated).
PHENOTYPE: Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA1 protein survive, have a kinky tail, pigmentation anomalies, male infertility and increased tumor incidence. [provided by MGI curators]
  • synonyms:
  • breast cancer 1, early onset,
  • Brca1,
  • MGD-MRK-25968

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Genome

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0 Canonical

0 CDSs

0 Exons

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1 Involved In Mutations

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0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

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Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

31 Pathways

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Expression

Gene --> Expression annotations

Phenotype

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Disease

Mouse features --> Human diseases

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