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UniProtKB - P38398 (BRCA1_HUMAN)

Entry version 264 (23 Feb 2022)
Sequence version 2 (01 Feb 1995)
Previous versions | rss
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Protein

Breast cancer type 1 susceptibility protein

Gene

BRCA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (PubMed:12890688, PubMed:14976165, PubMed:16818604, PubMed:17525340, PubMed:12887909, PubMed:10500182, PubMed:19261748).

It is unclear whether it also mediates the formation of other types of polyubiquitin chains (PubMed:12890688).

The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability (PubMed:12890688, PubMed:14976165, PubMed:20351172).

Regulates centrosomal microtubule nucleation (PubMed:18056443).

Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle (PubMed:10724175, PubMed:12183412, PubMed:11836499, PubMed:19261748).

Required for FANCD2 targeting to sites of DNA damage (PubMed:12887909).

Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation (PubMed:16326698).

Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks (PubMed:19369211).

Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8 (PubMed:16818604).

Acts as a transcriptional activator (PubMed:20160719).

15 Publications

Caution

An article that concluded that AURKA-mediated phosphorylation of BRCA1 Ser-308 plays a role in the normal cell cycle G2/M transition was withdrawn due to data manipulation of flow cytometry data.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

The E3 ubiquitin-protein ligase activity is inhibited by phosphorylation by AURKA. Activity is increased by phosphatase treatment.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri24 – 65RING-typePROSITE-ProRule annotationAdd BLAST42

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding, Transferase
Biological processCell cycle, DNA damage, DNA recombination, DNA repair, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transcription, Transcription regulation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.3.2.27, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P38398

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1221632, Meiotic synapsis
R-HSA-3108214, SUMOylation of DNA damage response and repair proteins
R-HSA-5685938, HDR through Single Strand Annealing (SSA)
R-HSA-5685942, HDR through Homologous Recombination (HRR)
R-HSA-5689901, Metalloprotease DUBs
R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693571, Nonhomologous End-Joining (NHEJ)
R-HSA-5693579, Homologous DNA Pairing and Strand Exchange
R-HSA-5693607, Processing of DNA double-strand break ends
R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6796648, TP53 Regulates Transcription of DNA Repair Genes
R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation
R-HSA-69473, G2/M DNA damage checkpoint
R-HSA-8953750, Transcriptional Regulation by E2F6
R-HSA-912446, Meiotic recombination
R-HSA-9663199, Defective DNA double strand break response due to BRCA1 loss of function
R-HSA-9699150, Defective DNA double strand break response due to BARD1 loss of function
R-HSA-9701192, Defective HDR through Homologous Recombination (HRR) due to BRCA1 loss-of-function
R-HSA-9704331, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
R-HSA-9704646, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P38398

SIGNOR Signaling Network Open Resource

More...SIGNORi		P38398

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00143

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Breast cancer type 1 susceptibility protein (EC:2.3.2.276 Publications)
Alternative name(s):
RING finger protein 53
RING-type E3 ubiquitin transferase BRCA1Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BRCA1
Synonyms:RNF53
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1100, BRCA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		113705, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P38398

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000012048

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Breast cancer (BC)22 Publications
Disease susceptibility is associated with variants affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover, BRCA1 carriers have a 4-fold increased risk of colon cancer, whereas male carriers face a 3-fold increased risk of prostate cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination.
Disease descriptionA common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0704584S → F in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs786203152EnsemblClinVar.1
Natural variantiVAR_02067910E → K in BC and BROVCA1. 1 Publication1
Natural variantiVAR_06389918M → T in BC; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs80356929EnsemblClinVar.1
Natural variantiVAR_00775622L → S in BC. 1 PublicationCorresponds to variant dbSNP:rs80357438EnsemblClinVar.1
Natural variantiVAR_02068023E → K in BC and BROVCA1. 1 Publication1
Natural variantiVAR_07045945K → Q in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs769650474EnsemblClinVar.1
Natural variantiVAR_00775761C → G in BC and ovarian cancer; no interaction with BAP1. 7 PublicationsCorresponds to variant dbSNP:rs28897672EnsemblClinVar.1
Natural variantiVAR_00775864C → G in BC; no interaction with BAP1. 4 PublicationsCorresponds to variant dbSNP:rs80357064EnsemblClinVar.1
Natural variantiVAR_07046067D → Y in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357102EnsemblClinVar.1
Natural variantiVAR_02068171R → K in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356913EnsemblClinVar.1
Natural variantiVAR_070462132N → K in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357413EnsemblClinVar.1
Natural variantiVAR_070463142P → H in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs55971303EnsemblClinVar.1
Natural variantiVAR_070464147L → F in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs748876625EnsemblClinVar.1
Natural variantiVAR_070465165L → P in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_070466170R → W in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357325EnsemblClinVar.1
Natural variantiVAR_070467186S → Y in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs55688530EnsemblClinVar.1
Natural variantiVAR_070468191V → I in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357090EnsemblClinVar.1
Natural variantiVAR_070469231T → M in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357001EnsemblClinVar.1
Natural variantiVAR_070470245D → V in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80356865EnsemblClinVar.1
Natural variantiVAR_070471246L → V in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897675EnsemblClinVar.1
Natural variantiVAR_070472271V → L in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357244EnsemblClinVar.1
Natural variantiVAR_007761271V → M in BC. 1 PublicationCorresponds to variant dbSNP:rs80357244EnsemblClinVar.1
Natural variantiVAR_008760346P → S in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357015EnsemblClinVar.1
Natural variantiVAR_007763369Missing in BC. Corresponds to variant dbSNP:rs80358325Ensembl.1
Natural variantiVAR_007765461F → L in BC. 1 PublicationCorresponds to variant dbSNP:rs56046357EnsemblClinVar.1
Natural variantiVAR_007766465Y → D in BC. 1 PublicationCorresponds to variant dbSNP:rs397508869EnsemblClinVar.1
Natural variantiVAR_007768552G → V in BC. 1 PublicationCorresponds to variant dbSNP:rs397508893EnsemblClinVar.1
Natural variantiVAR_070473668L → F in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357250EnsemblClinVar.1
Natural variantiVAR_070474695D → N in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897681EnsemblClinVar.1
Natural variantiVAR_020683749D → Y in BC. 1 PublicationCorresponds to variant dbSNP:rs80357114EnsemblClinVar.1
Natural variantiVAR_070475798P → L in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs876660005EnsemblClinVar.1
Natural variantiVAR_070476810N → Y in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897682EnsemblClinVar.1
Natural variantiVAR_007772826T → K in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897683EnsemblClinVar.1
Natural variantiVAR_070477841R → Q in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357337EnsemblClinVar.1
Natural variantiVAR_020686866R → Q in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_020687888H → Y in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357480EnsemblClinVar.1
Natural variantiVAR_007775892L → S in BC. 1 PublicationCorresponds to variant dbSNP:rs397508994EnsemblClinVar.1
Natural variantiVAR_007776960G → D in BC. 1 PublicationCorresponds to variant dbSNP:rs397509022EnsemblClinVar.1
Natural variantiVAR_0077781025T → I in BC. 1 PublicationCorresponds to variant dbSNP:rs397509034EnsemblClinVar.1
Natural variantiVAR_0077811047V → A in BC. 1 PublicationCorresponds to variant dbSNP:rs397509037EnsemblClinVar.1
Natural variantiVAR_0704791101S → N in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs41293447EnsemblClinVar.1
Natural variantiVAR_0206891139S → I in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357228EnsemblClinVar.1
Natural variantiVAR_0199451140S → G in BC; unknown pathological significance; functionally neutral in vitro. 2 PublicationsCorresponds to variant dbSNP:rs2227945EnsemblClinVar.1
Natural variantiVAR_0704801140S → N in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0077821150P → S in BC. 1 PublicationCorresponds to variant dbSNP:rs80357272EnsemblClinVar.1
Natural variantiVAR_0206901187S → I in BC and BROVCA1. 1 Publication1
Natural variantiVAR_0206911200Q → H in BC and BROVCA1. 1 PublicationCorresponds to variant dbSNP:rs56214134EnsemblClinVar.1
Natural variantiVAR_0206921204R → I in BC. 1 Publication1
Natural variantiVAR_0206931207K → N in BC. 1 Publication1
Natural variantiVAR_0206941210E → G in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1060502347EnsemblClinVar.1
Natural variantiVAR_0704811214E → K in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80356923EnsemblClinVar.1
Natural variantiVAR_0206951217S → Y in BC and BROVCA1. 1 Publication1
Natural variantiVAR_0520781236N → K in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897687EnsemblClinVar.1
Natural variantiVAR_0704821267L → S in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs587782190EnsemblClinVar.1
Natural variantiVAR_0704831282E → V in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357217EnsemblClinVar.1
Natural variantiVAR_0206981297S → P in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1450793674EnsemblClinVar.1
Natural variantiVAR_0704841297Missing in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0704851301S → R in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs273900719EnsemblClinVar.1
Natural variantiVAR_0704861346E → K in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357407EnsemblClinVar.1
Natural variantiVAR_0704871378V → I in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897690EnsemblClinVar.1
Natural variantiVAR_0704881400M → V in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357306EnsemblClinVar.1
Natural variantiVAR_0704891407L → P in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357492EnsemblClinVar.1
Natural variantiVAR_0206991411M → T in BC and ovarian cancer; unknown pathological significance; decreased interaction with PALB2. 3 PublicationsCorresponds to variant dbSNP:rs273900729EnsemblClinVar.1
Natural variantiVAR_0077871443R → G in BC; unknown pathological significance; functionally neutral in vitro. 3 PublicationsCorresponds to variant dbSNP:rs41293455EnsemblClinVar.1
Natural variantiVAR_0704901448S → G in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357486EnsemblClinVar.1
Natural variantiVAR_0704911486S → C in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs397507232EnsemblClinVar.1
Natural variantiVAR_0639001495R → M in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357389EnsemblClinVar.1
Natural variantiVAR_0704921534V → M in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs55815649EnsemblClinVar.1
Natural variantiVAR_0704931589R → P in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0704941651S → F in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356938EnsemblClinVar.1
Natural variantiVAR_0704951651S → P in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254042EnsemblClinVar.1
Natural variantiVAR_0704961655S → F in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357390EnsemblClinVar.1
Natural variantiVAR_0639021685T → A in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356890EnsemblClinVar.1
Natural variantiVAR_0704971686H → Q in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs397509218EnsemblClinVar.1
Natural variantiVAR_0704981686H → R in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs730882166EnsemblClinVar.1
Natural variantiVAR_0704991688Missing in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80358344Ensembl.1
Natural variantiVAR_0639041689M → R in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357061EnsemblClinVar.1
Natural variantiVAR_0705001691T → I in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357034EnsemblClinVar.1
Natural variantiVAR_0705011699R → Q in BC; unknown pathological significance; strongly reduces affinity for a BRIP1 phosphopeptide; functionally impaired in vitro. 2 PublicationsCorresponds to variant dbSNP:rs41293459EnsemblClinVar.1
Natural variantiVAR_0756661699R → W in BC, ovarian cancer and FANCS; impairs protein stability; functionally impaired in vitro. 5 PublicationsCorresponds to variant dbSNP:rs55770810EnsemblClinVar.1
Natural variantiVAR_0705021706G → A in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356860EnsemblClinVar.1
Natural variantiVAR_0639051706G → E in BC; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs80356860EnsemblClinVar.1
Natural variantiVAR_0077961708A → E in BC; abolishes ACACA binding. 3 PublicationsCorresponds to variant dbSNP:rs28897696EnsemblClinVar.1
Natural variantiVAR_0639061715S → R in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357094EnsemblClinVar.1
Natural variantiVAR_0705031718W → C in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357239EnsemblClinVar.1
Natural variantiVAR_0705041720T → A in BC; unknown pathological significance; functionally neutral in vitro; no effect on in vitro phosphorylation by ATR. 2 PublicationsCorresponds to variant dbSNP:rs56195342EnsemblClinVar.1
Natural variantiVAR_0705051735E → K in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397509238EnsemblClinVar.1
Natural variantiVAR_0705061736V → A in BC and FANCS; unknown pathological significance; Decreased localization to DNA damage sites and reduced interaction with UIMC1/RAP80. 2 PublicationsCorresponds to variant dbSNP:rs45553935EnsemblClinVar.1
Natural variantiVAR_0639071738G → R in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356937EnsemblClinVar.1
Natural variantiVAR_0705071739D → G in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357227EnsemblClinVar.1
Natural variantiVAR_0705081739D → V in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357227EnsemblClinVar.1
Natural variantiVAR_0705091746H → Q in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs786202389EnsemblClinVar.1
Natural variantiVAR_0705101753R → T in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397509246EnsemblClinVar.1
Natural variantiVAR_0639081764L → P in BC; unknown pathological significance; functionally impaired in vitro. 2 PublicationsCorresponds to variant dbSNP:rs80357281EnsemblClinVar.1
Natural variantiVAR_0639091766I → S in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357463EnsemblClinVar.1
Natural variantiVAR_0705111767C → S in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs1597804426EnsemblClinVar.1
Natural variantiVAR_0705121770G → V in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs863224765EnsemblClinVar.1
Natural variantiVAR_0632121775M → K in BC; strongly reduced transcription transactivation; abolishes interaction with BRIP1 and RBBP8. 1 PublicationCorresponds to variant dbSNP:rs41293463EnsemblClinVar.1
Natural variantiVAR_0077991775M → R in BC; alters protein stability and abolishes ACACA and BRIP1 binding. 5 PublicationsCorresponds to variant dbSNP:rs41293463EnsemblClinVar.1
Natural variantiVAR_0796071780L → P in BC, BROVCA1 and OC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357474EnsemblClinVar.1
Natural variantiVAR_0705131782W → C in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0639101788G → V in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357069EnsemblClinVar.1
Natural variantiVAR_0705141789A → T in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357078EnsemblClinVar.1
Natural variantiVAR_0705151794E → D in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs397509275EnsemblClinVar.1
Natural variantiVAR_0705161804V → D in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80356920EnsemblClinVar.1
Natural variantiVAR_0705171812P → R in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0705181837W → R in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80356959EnsemblClinVar.1
Natural variantiVAR_0705191862H → L in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357183EnsemblClinVar.1
Breast-ovarian cancer, familial, 1 (BROVCA1)4 Publications
Disease susceptibility is associated with variants affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer.
Disease descriptionA condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02067910E → K in BC and BROVCA1. 1 Publication1
Natural variantiVAR_02068023E → K in BC and BROVCA1. 1 Publication1
Natural variantiVAR_020684835H → Y in BROVCA1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs751656678EnsemblClinVar.1
Natural variantiVAR_007773841R → W in BROVCA1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1800709EnsemblClinVar.1
Natural variantiVAR_0206901187S → I in BC and BROVCA1. 1 Publication1
Natural variantiVAR_0206911200Q → H in BC and BROVCA1. 1 PublicationCorresponds to variant dbSNP:rs56214134EnsemblClinVar.1
Natural variantiVAR_0206951217S → Y in BC and BROVCA1. 1 Publication1
Natural variantiVAR_0206961226F → L in BROVCA1. 1 Publication1
Natural variantiVAR_0206971243R → G in BROVCA1. 1 Publication1
Natural variantiVAR_0207041786L → P in BROVCA1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398122697EnsemblClinVar.1
Ovarian cancer (OC)4 Publications
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionThe term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0796071780L → P in BC, BROVCA1 and OC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357474EnsemblClinVar.1
Pancreatic cancer 4 (PNCA4)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.
Related information in OMIM
Fanconi anemia, complementation group S (FANCS)3 Publications
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080693903 – 1863Missing in FANCS. 1 PublicationAdd BLAST961
Natural variantiVAR_0756661699R → W in BC, ovarian cancer and FANCS; impairs protein stability; functionally impaired in vitro. 5 PublicationsCorresponds to variant dbSNP:rs55770810EnsemblClinVar.1
Natural variantiVAR_0705061736V → A in BC and FANCS; unknown pathological significance; Decreased localization to DNA damage sites and reduced interaction with UIMC1/RAP80. 2 PublicationsCorresponds to variant dbSNP:rs45553935EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi26I → A: Disrupts the interaction with E2 enzymes, thereby abolishing the E3 ubiquitin-protein ligase activity. 2 Publications1
Mutagenesisi26I → E: No ubiquitination of RBBP8. No restoration RBBP8-mediated focus formation or G2/M checkpoint control upon DNA damage. 2 Publications1
Mutagenesisi71R → G: No effect on interaction with BAP1. 1 Publication1
Mutagenesisi1143S → A: Reduces in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1239S → A: No effect on in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1280S → A: Reduces in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1298S → A: No effect on in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1330S → A: No effect on in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1387S → A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR. 2 Publications1
Mutagenesisi1394T → A: Reduces in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1423S → A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR. 2 Publications1
Mutagenesisi1457S → A: Reduces in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1466S → A: No effect on in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1524S → A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR. 2 Publications1
Mutagenesisi1655S → A: Abolishes interaction with BRIP1. 1 Publication1
Mutagenesisi1656G → D: No effect on affinity for a BRIP1 phosphopeptide. 1 Publication1
Mutagenesisi1662F → S: Does not abolish ABRAXAS1 binding, but abolishes formation of a heterotetramer with ABRAXAS1. 1 Publication1
Mutagenesisi1663M → K: Does not abolish ABRAXAS1 binding, but abolishes formation of a heterotetramer with ABRAXAS1. 1 Publication1
Mutagenesisi1666Y → A: Does not abolish ABRAXAS1 binding, but impairs formation of a heterotetramer with ABRAXAS1. 1 Publication1
Mutagenesisi1670R → E: Impairs formation of a heterotetramer with ABRAXAS1. 1 Publication1
Mutagenesisi1671K → E: Impairs formation of a heterotetramer with ABRAXAS1. 1 Publication1
Mutagenesisi1700T → A: Strongly reduces affinity for a BRIP1 phosphopeptide. 1 Publication1
Mutagenesisi1702K → M: Abolishes interaction with BRIP1. 1 Publication1
Mutagenesisi1738G → E: Abolishes interaction with BRIP1. 1 Publication1
Mutagenesisi1755S → A: No effect on in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1835R → P: Mildly reduces affinity for a BRIP1 phosphopeptide. 1 Publication1
Mutagenesisi1836E → K: Slightly reduces affinity for a BRIP1 phosphopeptide. 1 Publication1

Keywords - Diseasei

Disease variant, Fanconi anemia, Tumor suppressor

Organism-specific databases

DisGeNET

More...DisGeNETi		672

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		BRCA1

MalaCards human disease database

More...MalaCardsi		BRCA1
MIMi114480, phenotype
167000, phenotype
604370, phenotype
614320, phenotype
617883, phenotype

Open Targets

More...OpenTargetsi		ENSG00000012048

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		1333, Familial pancreatic carcinoma
1331, Familial prostate cancer
84, Fanconi anemia
145, Hereditary breast and ovarian cancer syndrome
227535, Hereditary breast cancer
213524, Hereditary site-specific ovarian cancer syndrome
168829, Primary peritoneal carcinoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25411

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P38398, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5990

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BRCA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		728984

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000558301 – 1863Breast cancer type 1 susceptibility proteinAdd BLAST1863

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki109Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei114