Details for: BRCA1

Gene ID: 672

Symbol: BRCA1

Ensembl ID: ENSG00000012048

Description: BRCA1 DNA repair associated

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169014
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.47
    Marker Score: 2106
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.27
    Marker Score: 2996
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.24
    Marker Score: 724
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.21
    Marker Score: 3292
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.15
    Marker Score: 783
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.07
    Marker Score: 16688
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.06
    Marker Score: 1429
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.05
    Marker Score: 1267
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251763
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71781
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48006
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 495
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.95
    Marker Score: 307
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 449
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.95
    Marker Score: 530
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.92
    Marker Score: 1152
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2728
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.9
    Marker Score: 283
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5048
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 316
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.87
    Marker Score: 2574
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.87
    Marker Score: 815
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.86
    Marker Score: 1748
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.85
    Marker Score: 512.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.82
    Marker Score: 1332
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.79
    Marker Score: 596
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.77
    Marker Score: 925
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.76
    Marker Score: 4911
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 301
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 385
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 568
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.72
    Marker Score: 4305
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.71
    Marker Score: 758
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.71
    Marker Score: 941
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2947.5
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 633
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.69
    Marker Score: 504
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.68
    Marker Score: 2843
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.67
    Marker Score: 14325
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.66
    Marker Score: 1458.5
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.65
    Marker Score: 741
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.64
    Marker Score: 645
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.64
    Marker Score: 792
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.61
    Marker Score: 300
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.6
    Marker Score: 550.5
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.6
    Marker Score: 2571
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.59
    Marker Score: 513
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.59
    Marker Score: 382
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.58
    Marker Score: 279
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.58
    Marker Score: 2232
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.57
    Marker Score: 2036
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 151
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.54
    Marker Score: 266
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.53
    Marker Score: 2185
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 0.53
    Marker Score: 146
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.52
    Marker Score: 1245
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.52
    Marker Score: 134
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.51
    Marker Score: 11452
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.51
    Marker Score: 2744
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.51
    Marker Score: 857
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.51
    Marker Score: 441
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.51
    Marker Score: 146
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.5
    Marker Score: 208
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.5
    Marker Score: 539
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.5
    Marker Score: 157
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.49
    Marker Score: 756
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.48
    Marker Score: 304
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.48
    Marker Score: 267
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.47
    Marker Score: 148.5
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.47
    Marker Score: 206
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.47
    Marker Score: 382
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.46
    Marker Score: 788
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.46
    Marker Score: 285
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.45
    Marker Score: 472
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.44
    Marker Score: 164
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.44
    Marker Score: 288
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.43
    Marker Score: 210
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.43
    Marker Score: 284
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.43
    Marker Score: 173
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.42
    Marker Score: 205
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.42
    Marker Score: 615
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.42
    Marker Score: 1444
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.42
    Marker Score: 449
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.42
    Marker Score: 1638
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.42
    Marker Score: 402
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.42
    Marker Score: 174
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.41
    Marker Score: 1178
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.41
    Marker Score: 102
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.41
    Marker Score: 143
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.41
    Marker Score: 204
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.41
    Marker Score: 451
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.41
    Marker Score: 15050
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.41
    Marker Score: 283
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.41
    Marker Score: 425

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Other Information

**Key characteristics:** - BRCA1 is a large protein (750 amino acids) that is found in humans and other mammals. - It is a member of the BRCA1 protein family. - BRCA1 is a highly conserved protein, with a sequence that is similar in humans, mice, and flies. - It is a key regulator of cell cycle and DNA repair pathways. **Pathways and functions:** - BRCA1 is involved in various cellular processes, including cell cycle regulation, DNA repair, and response to DNA damage. - It is involved in maintaining genomic stability by repairing DNA damage caused by various agents, including ionizing radiation, chemicals, and viruses. - BRCA1 is also involved in the prevention of cancer by helping to repair DNA damage that could lead to the development of cancer cells. **Clinical significance:** - Mutations in BRCA1 gene have been linked to an increased risk of certain types of cancer, including breast cancer, ovarian cancer, and prostate cancer. - BRCA1 mutations can also cause non-cancerous diseases, such as Fanconi's anemia and Bloom syndrome. - BRCA1 is a promising target for cancer therapy, as it is frequently mutated in cancer cells. - The development of targeted therapies that inhibit BRCA1 has shown promise in improving the prognosis of cancer patients.

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. For the full schema, download it here.