Details for: BRCA1

Gene ID: 672

Symbol: BRCA1

Ensembl ID: ENSG00000012048

Description: BRCA1 DNA repair associated

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 74.2549
    Cell Significance Index: -11.5500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 60.0252
    Cell Significance Index: -15.2300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 37.4055
    Cell Significance Index: -17.6600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 36.3071
    Cell Significance Index: -14.7500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.3235
    Cell Significance Index: -14.6300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.2122
    Cell Significance Index: -16.2900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.4953
    Cell Significance Index: -17.4000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.2828
    Cell Significance Index: -16.9000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.0404
    Cell Significance Index: -12.4100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.9797
    Cell Significance Index: -8.7100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.3590
    Cell Significance Index: 468.1600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.5020
    Cell Significance Index: 148.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.3292
    Cell Significance Index: 74.5900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 1.2762
    Cell Significance Index: 21.8700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8522
    Cell Significance Index: 138.6000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7804
    Cell Significance Index: 84.8800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.7267
    Cell Significance Index: 20.3100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7138
    Cell Significance Index: 42.8500
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.7019
    Cell Significance Index: 5.3000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.6262
    Cell Significance Index: 16.7500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.5647
    Cell Significance Index: 66.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4950
    Cell Significance Index: 31.2000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.4801
    Cell Significance Index: 9.3700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4476
    Cell Significance Index: 34.3500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4324
    Cell Significance Index: 82.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.3849
    Cell Significance Index: 55.9500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.3094
    Cell Significance Index: 7.9100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2845
    Cell Significance Index: 256.8600
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.2668
    Cell Significance Index: 3.3600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2276
    Cell Significance Index: 26.5200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1912
    Cell Significance Index: 38.3500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1691
    Cell Significance Index: 60.6500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1681
    Cell Significance Index: 91.8200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1675
    Cell Significance Index: 20.5900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1627
    Cell Significance Index: 1.9400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1615
    Cell Significance Index: 10.4200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1296
    Cell Significance Index: 3.4600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1199
    Cell Significance Index: 6.2300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1163
    Cell Significance Index: 3.3500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0992
    Cell Significance Index: 17.8800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0966
    Cell Significance Index: 60.3200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0927
    Cell Significance Index: 41.0000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0826
    Cell Significance Index: 57.1000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0755
    Cell Significance Index: 3.3400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0754
    Cell Significance Index: 116.1400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0671
    Cell Significance Index: 123.8100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0617
    Cell Significance Index: 2.3400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0506
    Cell Significance Index: 68.7500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0487
    Cell Significance Index: 91.7600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0307
    Cell Significance Index: 2.1200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0288
    Cell Significance Index: 3.9500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0282
    Cell Significance Index: 1.2800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0196
    Cell Significance Index: 0.6900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0154
    Cell Significance Index: 0.8000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0101
    Cell Significance Index: 6.3900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0086
    Cell Significance Index: 3.9000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0009
    Cell Significance Index: 0.0300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0052
    Cell Significance Index: -0.1100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0105
    Cell Significance Index: -7.8100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0119
    Cell Significance Index: -6.7100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0196
    Cell Significance Index: -14.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0224
    Cell Significance Index: -16.9500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0331
    Cell Significance Index: -5.6500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0332
    Cell Significance Index: -1.5500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0454
    Cell Significance Index: -13.0500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0475
    Cell Significance Index: -1.0300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0492
    Cell Significance Index: -1.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0493
    Cell Significance Index: -10.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0527
    Cell Significance Index: -6.0400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0812
    Cell Significance Index: -10.4100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0985
    Cell Significance Index: -1.6600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1030
    Cell Significance Index: -10.5200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1077
    Cell Significance Index: -7.6200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1087
    Cell Significance Index: -1.6100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1126
    Cell Significance Index: -11.7200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1141
    Cell Significance Index: -7.6700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1207
    Cell Significance Index: -15.5900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1318
    Cell Significance Index: -15.0400
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.1330
    Cell Significance Index: -0.8400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1487
    Cell Significance Index: -2.1300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1638
    Cell Significance Index: -4.2100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1810
    Cell Significance Index: -3.0300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1851
    Cell Significance Index: -11.3800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1882
    Cell Significance Index: -9.8800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1917
    Cell Significance Index: -9.0100
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1933
    Cell Significance Index: -2.9900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2024
    Cell Significance Index: -5.0600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2059
    Cell Significance Index: -16.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2080
    Cell Significance Index: -15.5000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2243
    Cell Significance Index: -6.0100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.2298
    Cell Significance Index: -3.3000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2469
    Cell Significance Index: -3.7200
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.2476
    Cell Significance Index: -3.4400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2553
    Cell Significance Index: -15.6500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2757
    Cell Significance Index: -5.7200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3042
    Cell Significance Index: -4.4900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3450
    Cell Significance Index: -5.1700
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.3539
    Cell Significance Index: -3.5700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3553
    Cell Significance Index: -4.4300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3801
    Cell Significance Index: -8.1300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **DNA Repair Associated:** The BRCA1 gene is involved in the repair of DNA double-strand breaks through homologous recombination repair (HRR). 2. **Mutations in Cancer Susceptibility:** Mutations in the BRCA1 gene have been linked to an increased risk of breast and ovarian cancers. 3. **Expression in Specific Cells:** The BRCA1 gene is specifically expressed in cells involved in reproduction, development, and maintenance of tissue integrity. **Pathways and Functions:** 1. **Homologous Recombination Repair (HRR):** The BRCA1 gene is essential for the HRR pathway, which repairs DNA double-strand breaks by exchanging genetic material between homologous chromosomes. 2. **Cell Cycle Regulation:** The BRCA1 gene plays a role in regulating the cell cycle, particularly in the G2/M checkpoint, where it ensures proper DNA repair before cell division. 3. **Apoptosis:** The BRCA1 gene is involved in the intrinsic apoptotic signaling pathway in response to DNA damage, promoting cell death in damaged cells. 4. **Transcriptional Regulation:** The BRCA1 gene regulates transcriptional activity, particularly in the context of DNA damage response and repair. **Clinical Significance:** 1. **Cancer Susceptibility:** Mutations in the BRCA1 gene significantly increase the risk of breast and ovarian cancers, highlighting its importance in cancer susceptibility. 2. **Genetic Testing:** Genetic testing for BRCA1 mutations is an essential tool in cancer risk assessment and prevention. 3. **Therapeutic Implications:** Targeting the BRCA1 pathway has shown promise in cancer therapy, particularly in the treatment of BRCA1-mutated breast and ovarian cancers. 4. **Immunological Implications:** The BRCA1 gene's role in DNA repair and cell cycle regulation has implications for the immune system's ability to recognize and respond to cancer cells. **Conclusion:** The BRCA1 gene is a critical component of the human genome, playing a vital role in maintaining genomic stability through its involvement in homologous recombination repair. Mutations in the BRCA1 gene significantly increase the risk of breast and ovarian cancers, highlighting its importance in cancer susceptibility. As an expert immunologist, I emphasize the need for further research into the BRCA1 gene's role in the immune system and its implications for cancer therapy and prevention.

Genular Protein ID: 3748258052

Symbol: BRCA1_HUMAN

Name: Breast cancer type 1 susceptibility protein

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7545954

Title: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

PubMed ID: 7545954

DOI: 10.1126/science.7545954

PubMed ID: 8938427

Title: Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1.

PubMed ID: 8938427

DOI: 10.1101/gr.6.11.1029

PubMed ID: 9010228

Title: Differential subcellular localization, expression and biological toxicity of BRCA1 and the splice variant BRCA1-delta11b.

PubMed ID: 9010228

DOI: 10.1038/sj.onc.1200924

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10851077

Title: Initiation of translation from a downstream in-frame AUG codon on BRCA1 can generate the novel isoform protein DeltaBRCA1(17aa).

PubMed ID: 10851077

DOI: 10.1038/sj.onc.1203599

PubMed ID: 8972225

Title: Localization of BRCA1 and a splice variant identifies the nuclear localization signal.

PubMed ID: 8972225

DOI: 10.1128/mcb.17.1.444

PubMed ID: 9662397

Title: BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase A.

PubMed ID: 9662397

DOI: 10.1038/930

PubMed ID: 9528852

Title: BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression.

PubMed ID: 9528852

DOI: 10.1038/sj.onc.1201861

PubMed ID: 9811458

Title: Characterization of a carboxy-terminal BRCA1 interacting protein.

PubMed ID: 9811458

DOI: 10.1038/sj.onc.1202150

PubMed ID: 10500182

Title: RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination.

PubMed ID: 10500182

DOI: 10.1073/pnas.96.20.11364

PubMed ID: 10783165

Title: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.

PubMed ID: 10783165

PubMed ID: 11114888

Title: Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.

PubMed ID: 11114888

DOI: 10.1101/gad.851000

PubMed ID: 10724175

Title: hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response.

PubMed ID: 10724175

DOI: 10.1038/35004614

PubMed ID: 11301010

Title: BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.

PubMed ID: 11301010

DOI: 10.1016/s0092-8674(01)00304-x

PubMed ID: 11739404

Title: BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations.

PubMed ID: 11739404

DOI: 10.1083/jcb.200108049

PubMed ID: 11239454

Title: Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.

PubMed ID: 11239454

DOI: 10.1016/s1097-2765(01)00173-3

PubMed ID: 12183412

Title: Phosphorylation of serine 1387 in BRCA1 is specifically required for the Atm-mediated S-phase checkpoint after ionizing irradiation.

PubMed ID: 12183412

PubMed ID: 12419185

Title: NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.

PubMed ID: 12419185

DOI: 10.1016/s0960-9822(02)01259-9

PubMed ID: 11877377

Title: SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint.

PubMed ID: 11877377

DOI: 10.1101/gad.970702

PubMed ID: 11751867

Title: The LIM domain protein LMO4 interacts with the cofactor CtIP and the tumor suppressor BRCA1 and inhibits BRCA1 activity.

PubMed ID: 11751867

DOI: 10.1074/jbc.m110603200

PubMed ID: 11836499

Title: BRCA1 regulates the G2/M checkpoint by activating Chk1 kinase upon DNA damage.

PubMed ID: 11836499

DOI: 10.1038/ng837

PubMed ID: 12360400

Title: BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains.

PubMed ID: 12360400

DOI: 10.1038/sj.onc.1205915

PubMed ID: 12890688

Title: The BRCA1/BARD1 heterodimer assembles polyubiquitin chains through an unconventional linkage involving lysine residue K6 of ubiquitin.

PubMed ID: 12890688

DOI: 10.1074/jbc.c300249200

PubMed ID: 12887909

Title: BRCA1-independent ubiquitination of FANCD2.

PubMed ID: 12887909

DOI: 10.1016/s1097-2765(03)00281-8

PubMed ID: 14636569

Title: Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair.

PubMed ID: 14636569

DOI: 10.1016/s1097-2765(03)00424-6

PubMed ID: 14976165

Title: BRCA1:BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair.

PubMed ID: 14976165

DOI: 10.1093/hmg/ddh095

PubMed ID: 14990569

Title: BRCA1 phosphorylation by Aurora-A in the regulation of G2 to M transition.

PubMed ID: 14990569

DOI: 10.1074/jbc.m311780200

PubMed ID: 26341884

Title:

PubMed ID: 26341884

DOI: 10.1074/jbc.a115.311780

PubMed ID: 15456891

Title: Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response.

PubMed ID: 15456891

DOI: 10.1128/mcb.24.20.9207-9220.2004

PubMed ID: 15096610

Title: Human claspin works with BRCA1 to both positively and negatively regulate cell proliferation.

PubMed ID: 15096610

DOI: 10.1073/pnas.0401847101

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16818604

Title: BRCA1 ubiquitinates its phosphorylation-dependent binding partner CtIP.

PubMed ID: 16818604

DOI: 10.1101/gad.1431006

PubMed ID: 16326698

Title: BRCA1 affects lipid synthesis through its interaction with acetyl-CoA carboxylase.

PubMed ID: 16326698

DOI: 10.1074/jbc.m504652200

PubMed ID: 16698035

Title: ACCA phosphopeptide recognition by the BRCT repeats of BRCA1.

PubMed ID: 16698035

DOI: 10.1016/j.jmb.2006.04.010

PubMed ID: 18056443

Title: Aurora-A kinase regulates breast cancer associated gene 1 inhibition of centrosome-dependent microtubule nucleation.

PubMed ID: 18056443

DOI: 10.1158/0008-5472.can-07-2578

PubMed ID: 17643122

Title: CCDC98 is a BRCA1-BRCT domain-binding protein involved in the DNA damage response.

PubMed ID: 17643122

DOI: 10.1038/nsmb1277

PubMed ID: 17643121

Title: CCDC98 targets BRCA1 to DNA damage sites.

PubMed ID: 17643121

DOI: 10.1038/nsmb1279

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 17525340

Title: Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response.

PubMed ID: 17525340

DOI: 10.1126/science.1139476

PubMed ID: 18762988

Title: Germline BRCA1 mutations predispose to pancreatic adenocarcinoma.

PubMed ID: 18762988

DOI: 10.1007/s00439-008-0554-0

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19261748

Title: MERIT40 facilitates BRCA1 localization and DNA damage repair.

PubMed ID: 19261748

DOI: 10.1101/gad.1770609

PubMed ID: 19261749

Title: NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control.

PubMed ID: 19261749

DOI: 10.1101/gad.1770309

PubMed ID: 19261746

Title: MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks.

PubMed ID: 19261746

DOI: 10.1101/gad.1739609

PubMed ID: 19369211

Title: PALB2 is an integral component of the BRCA complex required for homologous recombination repair.

PubMed ID: 19369211

DOI: 10.1073/pnas.0811159106

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20160719

Title: Identification of DBC1 as a transcriptional repressor for BRCA1.

PubMed ID: 20160719

DOI: 10.1038/sj.bjc.6605577

PubMed ID: 20351172

Title: The UBXN1 protein associates with autoubiquitinated forms of the BRCA1 tumor suppressor and inhibits its enzymatic function.

PubMed ID: 20351172

DOI: 10.1128/mcb.01056-09

PubMed ID: 20364141

Title: The CHK2-BRCA1 tumour suppressor pathway ensures chromosomal stability in human somatic cells.

PubMed ID: 20364141

DOI: 10.1038/ncb2051

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21144835

Title: Protein phosphatase 5 is necessary for ATR-mediated DNA repair.

PubMed ID: 21144835

DOI: 10.1016/j.bbrc.2010.12.005

PubMed ID: 21673012

Title: KIAA0101 interacts with BRCA1 and regulates centrosome number.

PubMed ID: 21673012

DOI: 10.1158/1541-7786.mcr-10-0503

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.o114.044792

PubMed ID: 26807646

Title: EXD2 promotes homologous recombination by facilitating DNA end resection.

PubMed ID: 26807646

DOI: 10.1038/ncb3303

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 28319063

Title: Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.

PubMed ID: 28319063

DOI: 10.1038/onc.2017.46

PubMed ID: 34552057

Title: ZGRF1 promotes end resection of DNA homologous recombination via forming complex with BRCA1/EXO1.

PubMed ID: 34552057

DOI: 10.1038/s41420-021-00633-7

PubMed ID: 36400755

Title:

PubMed ID: 36400755

DOI: 10.1038/s41420-022-01248-2

PubMed ID: 11573085

Title: Structure of a BRCA1-BARD1 heterodimeric RING-RING complex.

PubMed ID: 11573085

DOI: 10.1038/nsb1001-833

PubMed ID: 11573086

Title: Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1.

PubMed ID: 11573086

DOI: 10.1038/nsb1001-838

PubMed ID: 12427738

Title: Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.

PubMed ID: 12427738

DOI: 10.1074/jbc.m210019200

PubMed ID: 15609993

Title: Solution structure, backbone dynamics, and association behavior of the C-terminal BRCT domain from the breast cancer-associated protein BRCA1.

PubMed ID: 15609993

DOI: 10.1021/bi049550q

PubMed ID: 15133502

Title: Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

PubMed ID: 15133502

DOI: 10.1038/nsmb775

PubMed ID: 16101277

Title: Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex.

PubMed ID: 16101277

DOI: 10.1021/bi0509651

PubMed ID: 18452305

Title: Structural evidence for direct interactions between the BRCT domains of human BRCA1 and a phospho-peptide from human ACC1.

PubMed ID: 18452305

DOI: 10.1021/bi800314m

PubMed ID: 18285836

Title: Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

PubMed ID: 18285836

DOI: 10.1038/ejhg.2008.13

PubMed ID: 20159462

Title: Comparison of the structures and peptide binding specificities of the BRCT domains of MDC1 and BRCA1.

PubMed ID: 20159462

DOI: 10.1016/j.str.2009.12.008

PubMed ID: 21473589

Title: Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.

PubMed ID: 21473589

DOI: 10.1021/bi2003795

PubMed ID: 24316840

Title: Preliminary crystallographic studies of BRCA1 BRCT-ABRAXAS complex.

PubMed ID: 24316840

DOI: 10.1107/s1744309113030649

PubMed ID: 26778126

Title: Structure of BRCA1-BRCT/Abraxas complex reveals phosphorylation-dependent BRCT dimerization at DNA damage sites.

PubMed ID: 26778126

DOI: 10.1016/j.molcel.2015.12.017

PubMed ID: 8807330

Title: Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene.

PubMed ID: 8807330

DOI: 10.1002/humu.1380080102

PubMed ID: 7939630

Title: BRCA1 mutations in primary breast and ovarian carcinomas.

PubMed ID: 7939630

DOI: 10.1126/science.7939630

PubMed ID: 7894491

Title: Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

PubMed ID: 7894491

DOI: 10.1038/ng1294-387

PubMed ID: 7894493

Title: Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

PubMed ID: 7894493

DOI: 10.1038/ng1294-399

PubMed ID: 8554067

Title: A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.

PubMed ID: 8554067

PubMed ID: 8968716

Title: BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype.

PubMed ID: 8968716

DOI: 10.1002/(sici)1098-2272(1996)13:6<595::aid-gepi5>3.0.co;2-#

PubMed ID: 8776600

Title: Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

PubMed ID: 8776600

DOI: 10.1093/hmg/5.6.835

PubMed ID: 8723683

Title: Mutations in the BRCA1 gene in Japanese breast cancer patients.

PubMed ID: 8723683

DOI: 10.1002/(sici)1098-1004(1996)7:4<334::aid-humu7>3.0.co;2-8

PubMed ID: 9760198

Title: A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.

PubMed ID: 9760198

DOI: 10.1007/s004390050799

PubMed ID: 9482581

Title: Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.

PubMed ID: 9482581

DOI: 10.1002/(sici)1098-1004(1998)11:2<166::aid-humu10>3.0.co;2-x

PubMed ID: 9609997

Title: High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

PubMed ID: 9609997

DOI: 10.1007/s100380050035

PubMed ID: 10486320

Title: The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.

PubMed ID: 10486320

DOI: 10.1086/302583

PubMed ID: 10323242

Title: Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.

PubMed ID: 10323242

DOI: 10.1007/s004390050936

PubMed ID: 10196379

Title: Germline BRCA1 alterations in a population-based series of ovarian cancer cases.

PubMed ID: 10196379

DOI: 10.1093/hmg/8.5.889

PubMed ID: 12215251

Title: Characterization of common BRCA1 and BRCA2 variants.

PubMed ID: 12215251

DOI: 10.1089/10906570260199375

PubMed ID: 12442274

Title: BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.

PubMed ID: 12442274

DOI: 10.1002/humu.9083

PubMed ID: 12442275

Title: BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

PubMed ID: 12442275

DOI: 10.1002/humu.9084

PubMed ID: 12938098

Title: Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PubMed ID: 12938098

DOI: 10.1002/humu.9174

PubMed ID: 15026808

Title: BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

PubMed ID: 15026808

DOI: 10.1038/sj.bjc.6601656

PubMed ID: 14746861

Title: One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden.

PubMed ID: 14746861

DOI: 10.1016/j.ejca.2003.09.016

PubMed ID: 14722926

Title: Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PubMed ID: 14722926

DOI: 10.1002/humu.9213

PubMed ID: 15365993

Title: BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

PubMed ID: 15365993

DOI: 10.1002/humu.9275

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17924331

Title: A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

PubMed ID: 17924331

DOI: 10.1086/521032

PubMed ID: 20513136

Title: Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

PubMed ID: 20513136

DOI: 10.1002/humu.21267

Sequence Information:

  • Length: 1863
  • Mass: 207721
  • Checksum: 89C6D83FF56312AF
  • Sequence:
  • MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ 
    CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD 
    EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI 
    ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ 
    PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE 
    KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC 
    SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD 
    EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN 
    LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE 
    QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI 
    HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV 
    RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE 
    FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ 
    ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS 
    RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT 
    FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG 
    NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP 
    STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL 
    NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS 
    HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ 
    GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL 
    LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS 
    SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE 
    DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE 
    DLRNPEQSTS EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK 
    CPSLDDRWYM HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG 
    TPYLESGISL FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT 
    DTAGYNAMEE SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI 
    TEETTHVVMK TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV 
    VNGRNHQGPK RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL 
    GTGVHPIVVV QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH 
    SHY

Genular Protein ID: 3887050088

Symbol: A0A9Y1QQK3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 37272060

Title: Hybrid-seq deciphers the complex transcriptional profile of the human BRCA1 DNA repair associated gene.

PubMed ID: 37272060

Sequence Information:

  • Length: 1816
  • Mass: 202342
  • Checksum: BC96815F32430DEF
  • Sequence:
  • MLKLLNQKKG PSQCPLCKND ITKRSLQEST RFSQLVEELL KIICAFQLDT GLEYANSYNF 
    AKKENNSPEH LKDEVSIIQS MGYRNRAKRL LQSEPENPSL QETSLSVQLS NLGTVRTLRT 
    KQRIQPQKTS VYIELGSDSS EDTVNKATYC SVGDQELLQI TPQGTRDEIS LDSAKKAACE 
    FSETDVTNTE HHQPSNNDLN TTEKRAAERH PEKYQGSSVS NLHVEPCGTN THASSLQHEN 
    SSLLLTKDRM NVEKAEFCNK SKQPGLARSQ HNRWAGSKET CNDRRTPSTE KKVDLNADPL 
    CERKEWNKQK LPCSENPRDT EDVPWITLNS SIQKVNEWFS RSDELLGSDD SHDGESESNA 
    KVADVLDVLN EVDEYSGSSE KIDLLASDPH EALICKSERV HSKSVESNIE DKIFGKTYRK 
    KASLPNLSHV TENLIIGAFV TEPQIIQERP LTNKLKRKRR PTSGLHPEDF IKKADLAVQK 
    TPEMINQGTN QTEQNGQVMN ITNSGHENKT KGDSIQNEKN PNPIESLEKE SAFKTKAEPI 
    SSSISNMELE LNIHNSKAPK KNRLRRKSST RHIHALELVV SRNLSPPNCT ELQIDSCSSS 
    EEIKKKKYNQ MPVRHSRNLQ LMEGKEPATG AKKSNKPNEQ TSKRHDSDTF PELKLTNAPG 
    SFTKCSNTSE LKEFVNPSLP REEKEEKLET VKVSNNAEDP KDLMLSGERV LQTERSVESS 
    SISLVPGTDY GTQESISLLE VSTLGKAKTE PNKCVSQCAA FENPKGLIHG CSKDNRNDTE 
    GFKYPLGHEV NHSRETSIEM EESELDAQYL QNTFKVSKRQ SFAPFSNPGN AEEECATFSA 
    HSGSLKKQSP KVTFECEQKE ENQGKNESNI KPVQTVNITA GFPVVGQKDK PVDNAKCSIK 
    GGSRFCLSSQ FRGNETGLIT PNKHGLLQNP YRIPPLFPIK SFVKTKCKKN LLEENFEEHS 
    MSPEREMGNE NIPSTVSTIS RNNIRENVFK EASSSNINEV GSSTNEVGSS INEIGSSDEN 
    IQAELGRNRG PKLNAMLRLG VLQPEVYKQS LPGSNCKHPE IKKQEYEEVV QTVNTDFSPY 
    LISDNLEQPM GSSHASQVCS ETPDDLLDDG EIKEDTSFAE NDIKESSAVF SKSVQKGELS 
    RSPSPFTHTH LAQGYRRGAK KLESSEENLS SEDEELPCFQ HLLFGKVNNI PSQSTRHSTV 
    ATECLSKNTE ENLLSLKNSL NDCSNQVILA KASQEHHLSE ETKCSASLFS SQCSELEDLT 
    ANTNTQDPFL IGSSKQMRHQ SESQGVGLSD KELVSDDEER GTGLEENNQE EQSMDSNLGE 
    AASGCESETS VSEDCSGLSS QSDILTTQQR DTMQHNLIKL QQEMAELEAV LEQHGSQPSN 
    SYPSIISDSS ALEDLRNPEQ STSEKAVLTS QKSSEYPISQ NPEGLSADKF EVSADSSTSK 
    NKEPGVERSS PSKCPSLDDR WYMHSCSGSL QNRNYPSQEE LIKVVDVEEQ QLEESGPHDL 
    TETSYLPRQD LEGTPYLESG ISLFSDDPES DPSEDRAPES ARVGNIPSST SALKVPQLKV 
    AESAQSPAAA HTTDTAGYNA MEESVSREKP ELTASTERVN KRMSMVVSGL TPEEFMLVYK 
    FARKHHITLT NLITEETTHV VMKTDAEFVC ERTLKYFLGI AGGKWVVSYF WVTQSIKERK 
    MLNEHDFEVR GDVVNGRNHQ GPKRARESQD RKIFRGLEIC CYGPFTNMPT DQLEWMVQLC 
    GASVVKELSS FTLGTGVHPI VVVQPDAWTE DNGFHAIGQM CEAPVVTREW VLDSVALYQC 
    QELDTYLIPQ IPHSHY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.