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0BRCA1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
DescriptionBreast cancer type 1 susceptibility protein (ring finger protein 53).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0031436 BRCA1-BARD1 complex (IDA)
0008274 gamma-tubulin ring complex (NAS)
0005634 nucleus (TAS)
0000151 ubiquitin ligase complex (NAS)
0050681 androgen receptor binding (NAS)
0003677 DNA binding (TAS)
0005515 protein binding (IPI)
0003713 transcription coactivator activity (NAS)
0016563 transcriptional activator activity (TAS)
0015631 tubulin binding (NAS)
0008270 zinc ion binding (TAS)
0030521 androgen receptor signaling pathway (NAS)
0006978 DNA damage response, signal transduction by... (TAS)
0046600 negative regulation of centriole replication (NAS)
0045739 positive regulation of DNA repair (NAS)
0045893 positive regulation of transcription, DNA-d... (NAS)
0016567 protein ubiquitination (NAS)
0042981 regulation of apoptosis (TAS)
0042127 regulation of cell proliferation (TAS)
0006357 regulation of transcription from RNA polyme... (TAS)
0006359 regulation of transcription from RNA polyme... (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
The BRCT domain (after the C_terminal domain of a breast cancer susceptibility protein) is found predominantly in proteins involved in cell cycle checkpoint functions responsive to DNA damage .or example as found in the breast cancer DNA-repair protein BRCA1. The domain is an approximately 100 amino acid tandem repeat.hich appears to act as a phospho-protein binding domain .A chitin biosynthesis protein from yeast also seems to belong to this group.
Quality control of intracellular proteins is essential for cellular homeostasis. Molecular chaperones recognise and contribute to the refolding of misfolded or unfolded proteins.hereas the ubiquitin-proteasome system mediates the degradation of such abnormal proteins. Ubiquitin-protein ligases (E3s) determine the substrate specificity for ubiquitylation and have been classified into HECT and RING-finger families. More recently.owever.-box proteins.hich contain a domain (the U box) of about 70 amino acids that is conserved from yeast to humans.ave been identified as a new type of E3 .The RING-finger is a specialised type of Zn-finger of 40 to 60 residues that binds two atoms of zinc.nd is probably involved in mediating protein-protein interactions. . There are two different variants.he C3HC4-type and a C3H2C3-type.hich is clearly related despite the different cysteine/histidine pattern. The latter type is sometimes referred to as RING-H2 finger. The RING domain is a protein interaction domain which has been implicated in a range of diverse biological processes.E3 ubiquitin-protein ligase activity is intrinsic to the RING domain ofc-Cbl and is likely to be a general function of this domain; Various RINGfingers exhibit binding to E2 ubiquitin-conjugating enzymes (Ubcs) .Several 3D-structures for RING-fingers are known . The 3D structure of the zinc ligation system is unique to the RING domain and is referred to as the cross-brace motif. The spacing of the cysteines in such a domain is C-x(2)-C-x(9 to 39)-C-x(1 to 3)-H-x(2 to 3)-C-x(2)-C-x(4 to 48)-C-x(2)-C. Metal ligand pairs one and three co-ordinate to bind one zinc ion.hilst pairs two and four bind the second.s illustrated in the following schematic representation:Note that in the older literature.ome RING-fingers are denoted as LIM-domains. The LIM-domain Zn-finger is a fundamentally different family.lbeit with similar Cys-spacing (see ).
  IPR001841:Zinc finger, RING-type
Breast cancer is a common malignancy.ffecting 1 in 8 women. A major contributary factor in disease development lies in a positive family history. correlation that is striking for early-onset breast cancer. Mutations in BRCA1 are believed to be responsible for 45% of inherited breast cancer and more than 80% of inherited breast and ovarian cancer. The breast cancer type I susceptibility protein contains an N-terminal zinc-finger domain .ut otherwise appears unrelated to currently known protein families. It is hoped that BRCA1 will both facilitate early diagnosis of breast and ovarian cancer susceptibility.nd provide a better understanding of breast cancer biology .
  IPR002378:Breast cancer type I susceptibility protein
This group represents a DNA-damage repair protein.RCA1 . Germline mutations of the tumour-suppressor gene product BRCA1 lead to 50% familial breast cancer. The protein contains the BRCT C-terminal domain.n approximately 100 amino acid tandem repeat.hich appears to act as a phospho-protein binding domain .
SequencesProtein: BRCA1_HUMAN (1863 aa)
mRNA: NM_007295
Local Annotation
Synapse Ontology
A process that increases long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers.
sdb:0039 positive regulation of long-term neuronal synaptic plasticity  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 503 residues, 38449839-38451345Exon2: 22 residues, 38453185-38453246Exon3: 26 residues, 38454663-38454737Exon4: 20 residues, 38456605-38456660Exon5: 30 residues, 38462594-38462678Exon6: 15 residues, 38468875-38468916Exon7: 28 residues, 38469416-38469494Exon8: 31 residues, 38473150-38473238Exon9: 105 residues, 38476470-38476781Exon10: 65 residues, 38479873-38480064Exon11: 44 residues, 38482030-38482157Exon12: 59 residues, 38487946-38488118Exon13: 31 residues, 38496486-38496575Exon14: 1144 residues, 38496977-38500403Exon15: 27 residues, 38501388-38501465Exon16: 17 residues, 38502786-38502832Exon17: 37 residues, 38505317-38505423Exon18: 48 residues, 38509664-38509804Exon19: 31 residues, 38510410-38510499Exon20: 28 residues, 38511998-38512076Exon21: 20 residues, 38521268-38521322Exon22: 35 residues, 38529559-38529658Exon23: 128 residues, 38530279-38530657Exon24: 2 residues, -Jump to BRCA1_HUMAN  
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Loci Cluster (Details)Loci: 4288 37562438-37586822 ~-24K 15872(KCNH4)(-)Loci: 4289 37589603-37590996 ~-1K 15873(HCRT)(-)Loci: 3002 37864387-37928122 ~-64K 15882(ATP6V0A1)(+)Loci: 3003 37941476-37949990 ~-9K 15887(NAGLU)(+)Loci: 3004 38064836-38072549 ~-8K 15898(TUBG2)(+)Loci: 3005 38088157-38105358 ~-17K 15903(CNTNAP1)(+)Loci: 4290 38105819-38150574 ~-45K 15904(EZH1)(-)Loci: 3006 38186221-38202605 ~-16K 15907(WNK4)(+)Loci: 4291 38215677-38229807 ~-14K 15912(BECN1)(-)Loci: 3007 38250134-38256248 ~-6K 15916(AOC2)(+)Loci: 3008 38256726-38263664 ~-7K 15917(AOC3)(+)Loci: 4292 38420147-38427921 ~-8K 15927(VAT1)(-)Loci: 4293 38449839-38530657 ~-81K 15931(BRCA1)(-)Loci: 4287 37530523-37560548 ~-30K 15871(RAB5C)(-)Link out to UCSC