The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Required for FANCD2 targeting to sites of DNA damage. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its. . Regulates centrosomal microtubule nucleation. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Required for FANCD2 targeting to sites of DNA damage. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and.
The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX BRCA1 is a human tumor suppressor gene (also known as a caretaker gene) and is responsible for repairing DNA. BRCA1 and BRCA2 are unrelated proteins, but both are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA, or destroy cells if DNA cannot be repaired BRCA1 Lys1690Gln was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the BRCT 1 domain and in a region known to interact with multiple other proteins (Paul 2014, UniProt). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRCA1 Lys1690Gln is a pathogenic or benign variant. We consider it to. BARD1 Val85Leu occurs at a position that is conserved across species and is located within the RING finger domain and the region of interaction with BRCA1 (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BARD1 Val85Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance BRCA1 spielt eine wichtige Rolle in der Reparatur von Doppelstrangbrüchen. Eine Loss-of-function-Mutation oder Deletion des BRCA1-Gens erhöht die Wahrscheinlichkeit einer Tumorbildung, insbesondere für Brustkrebs (Mammakarzinom), Eierstockkrebs (Ovarialkarzinom), Dickdarmkrebs (Kolonkarzinom) und Prostatakarzinom
Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA1 protein survive, have a kinky tail, pigmentation anomalies, male infertility and increased tumor incidence Command-lines that use a gene symbol (BRCA1) to retrieve mammalian ortholog metadata (top, JSON metadata shown in part in the image) and sequences (bottom). For example, if you want the mammalian orthologs of the human BRCA1 gene you can use the following summary command to get metadata for these genes
Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability (PMID: 12890688, PMID: 14976165, PMID: 20351172). Regulates centrosomal microtubule nucleation (PMID: 18056443) SWISS-MODEL Repository entry for P38398 (BRCA1_HUMAN), Breast cancer type 1 susceptibility protein. Homo sapiens (Human BRCA1-associated RING domain protein 1 is a protein that in humans is encoded by the BARD1 gene. The human BARD1 protein is 777 amino acids long and contains a RING finger domain (residues 46-90), four ankyrin repeats (residues 420-555), and two tandem BRCT domains (residues 568-777)
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge BRCA1 promoter hypermethylation was present in only 13% of unselected primary breast carcinomas. Similarly, BRCA1 promoter hypermethylation was present in only 5% to 15% of EOC cases. Thus, while BRCA1 expression is low in these cancers, BRCA1 promoter methylation is only a minor cause of reduced expression BRCA1 Lys1690Gln was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the BRCT 1 domain and in a region known to interact with multiple other proteins (Paul 2014, UniProt). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it. BRCA Exchange. The BRCA Exchange aims to advance our understanding of the genetic basis of breast, ovarian, pancreatic and other cancers by pooling data on BRCA1/2 genetic variants and corresponding clinical data from around the world. Search for BRCA1 or BRCA2 variants above
BRCA1 is a human tumor suppressor gene. Like most genes, variations in the BRCA1 gene can be either causal for a given disease, or associated with somewhat higher risk, or benign. However, causal does not mean that there is a 100% certainty that a person with such a variant will develop the disease Two genes (BRCA1 and BRCA2) are curated separately. The two databases mentioned above are available for both genes. Go to the landing pages for either gene with the buttons below. BRCA1 BRCA2. 500 Chipeta Way Salt Lake City, UT 84108. 1 800-522-2787 Email . Research. Academic Research. Characterization of common BRCA1 and BRCA2 variants. Deffenbaugh A.M., Frank T.S., Hoffman M., Cannon-Albright L., Neuhausen S.L. Many missense variants identified in BRCA1 and BRCA2, two genes responsible for the majority of hereditary breast and ovarian cancer, are of unclear clinical significance UniProt/Swiss-Prot P38398. InterPro PDBe Reactome. Orthologs from selected species for BRCA1. Bos taurus BRCA1 Here, we report the presence of biallelic BRCA1 mutations in a woman with multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23. Patient cells exhibited deficiency in BRCA1 and RAD51 localization to DNA-damage sites, combined with.
Data source: UniProt. Protein Map Collapse protein map. Position of Targeted Peptide Analytes Relative to SNPs, Isoforms, and PTMs . Uniprot Database Entry PhosphoSitePlus ® Click a point on a node to view detailed assay information below . All other points link out to UniProt. Phosphorylation Acetylation Ubiquitylation Other loading. Assay Details for CPTAC-916 Collapse assay details. Data. BRCA1 deficiency is also associated with significantly increased expression levels of several protooncogenes, including c-Fos, Ha-Ras, and c-Myc, with a higher expression in tumors, while premalignant mammary epithelial cells displayed an intermediate state between tumors and controls. In human clinical samples, reduced expression of BRCA1 correlates with decreased levels of DNMT1, and reduced. BRCA1 mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. Variants that have been demonstrated to reduce the function of the protein have been shown to increase the risk for these cancers, as well as prostate and pancreatic cancer. These findings have been the impetus for the increased popularity of genetic testing of healthy individuals to assess risk. BRCA1 C-terminal (BRCT) domains in BRCA1 are essential for tumor suppressor function, though the underlying mechanisms remain unclear. We identified ezrin, radixin, and moesin as BRCA1 BRCT domain-interacting proteins. Ezrin-radixin-moesin (ERM) and F-actin colocalized with BRCA1 at the plasma membrane (PM) of cancer cells, especially at leading edges and focal adhesion sites. In stably.
BRCA1 C Terminus (BRCT) PDB and Pfam coordinate systems from the PDBe group, to allow us to map Pfam domains onto UniProt sequences and three-dimensional protein structures. The table below shows the structures on which the BRCT domain has been found. There are 213 instances of this domain found in the PDB. Note that there may be multiple copies of the domain in a single PDB structure. BRCA1-mutated tumors show genomic instability, mainly as a consequence of impaired recombinatorial DNA repair. Here we identify p53-binding protein 1 (53BP1) as an essential factor for sustaining the growth arrest induced by Brca1 deletion. Depletion of 53BP1 abrogates the ATM-dependent checkpoint response and G2 cell-cycle arrest triggered by the accumulation of DNA breaks in Brca1-deleted.
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. Defects in BRCA1 are a cause of susceptibility to breast-ovarian cancer familial type 1 (BROVCA1) [MIM:604370]. A condition associated with familial predisposition to cancer of. datasets summary ortholog symbol BRCA1 --taxon human --taxon-filter mammals > brca1-mammals.json. The gene metadata includes gene names and synonyms, genomic coordinates, RefSeq transcript and protein data, as well as Ensembl and UniProt accessions and other gene information. If you want the sequences, use the datasets download command to download a zip archive that includes gene, transcript. Two pathogenic BRCA1 mutations (c.922_924delinsT, c.5445G>A) and one pathogenic BRCA2 mutation (c.2259delT) were observed, and two of these (BRCA1 c.5445G>A and BRCA2 c.2259delT) are novel. The total prevalence of germline pathogenic mutations in BRCA1 and/or BRCA2 in Korean sporadic breast cancer is estimated to be about 3.1%. Considering that the majority of breast cancer cases are sporadic. This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome.
Deficiency in BRCA-dependent DNA interstrand crosslink (ICL) repair is intimately connected to breast cancer susceptibility and to the rare developmental syndrome Fanconi anemia. Bona fide Fanconi anemia proteins, BRCA2 (FANCD1), PALB2 (FANCN), and BRIP1 (FANCJ), interact with BRCA1 during ICL repair. However, the lack of detailed phenotypic and cellular characterization of a patient with. BRCA1 Val1833Met occurs at a position that is conserved in mammals and is located within the BRCT2 domain and a region known to interact with multiple proteins (Paul 2014, UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on the currently available evidence, we consider BRCA1 Val1833Met to be a likely pathogenic variant. Likely. MERIT40 facilitates BRCA1 localization and DNA damage repair. Feng L., Huang J., Chen J. The product of breast cancer susceptibility gene 1, BRCA1, plays pivotal roles in the maintenance of genomic integrity. Mounting evidence indicates that BRCA1 associates with many proteins or protein complexes to regulate diverse processes important for the cellular response to DNA damage. One of these.
BRCA2 ist ein Protein in den Zellkernen der meisten Eukaryoten, das als Untereinheit mehrerer Proteinkomplexe eine Schlüsselrolle bei der DNA-Reparatur und der homologen Rekombination einnimmt. Beim Menschen wird BRCA2 hauptsächlich in Brust-und Thymusdrüse, sowie in der Lunge, den Eierstöcken und der Milz produziert. Homozygote Mutationen im BRCA2-Gen sind für erhöhtes Risiko für. . Filter by : Entry Information. Entry status (1) REL (28) Impact of BRCA1 BRCT domain missense substitutions on phospho-peptide recognition: T1700A. Coquelle N, Green R, Glover JNM Biochemistry (2011) [PMID: 21473589 ] Source organism: Homo sapiens . Assembly composition: protein only structure. Bound. View mouse Brca1 Chr11:101488764-101551955 with: phenotypes, sequences, polymorphisms, proteins, references, function, expressio
BRCA1-associated RING domain protein 1 is a protein that in humans is encoded by the BARD1 gene. The Overview of all the structural information available in the PDB for UniProt: Q99728 (BRCA1-associated RING domain protein 1) at the PDBe-KB. Further reading This page was last edited on 26 April 2021, at 13:19 (UTC). Text is available under the Creative Commons Attribution-ShareAlike. UniProt stores protein sequences from primary nucleotide sequence data which are annotated as coding sequence (CDS), the so-called trEMBL database. The Swiss-Prot database is the other part of UniProt that stores curated high quality protein sequences with direct experimental evidence. Warning: Information is liquid BRCA1 - Explore an overview of BRCA1, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data For those sequences which have a structure in the Protein DataBank, we use the mapping between UniProt, PDB and Pfam coordinate systems from the PDBe group, to allow us to map Pfam domains onto UniProt sequences and three-dimensional protein structures. The table below shows the structures on which the BRCA-2_helical domain has been found Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20952656, PubMed:20457939, PubMed:29899443). This is a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from.
Q6UWZ7 | SWISS-MODEL Repository. Created with Raphaël 2.2.0. Q6UWZ7 (X-RAY) heteromer; 399-409 monomer; 1-331 50 100 150 200 250 300 350 400. It is possible new templates exist for this target since these models were created. Rebuild Models Rad51 ist ein DNA-bindendes Protein in Eukaryonten und ein Mitglied der RAD51-Protein-Familie, die eine Funktion in der DNA-Reparatur bei Doppelstrangbrüchen hat. RAD51-Proteine sind Homologe zu den bakteriellen Proteinen RecA und zum Rad51 aus der Bäckerhefe.Die Proteinsequenz ist sehr stark konserviert, d. h. die Aminosäuresequenzen der jeweiligen Proteine ähneln sich von Hefen bis Menschen PARP small inhibitors have been approved for the treatment of BRCA-negative breast, When UniProt adopted the Evidence Code Ontology (ECO) in 2014, we chose to use the concepts ECO:0000244 in manual assertions and ECO:0000213 in automatic assertions, respectively, for information inferred from a combination of experimental and computational evidence. These two ECO concepts have in fact a.
Database: UniProt Entry: P38398 SUBUNIT: Heterodimer with BARD1 (PubMed:11573085, PubMed:12890688, CC PubMed:14976165). Part of the BRCA1-associated genome surveillance CC complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 CC and the MRE11-RAD50-NBN protein (MRN) complex (PubMed:10783165). This CC association could be a dynamic process changing throughout the cell CC. BRCA1-associated RING domain protein 1 UniProtKB InterPro STRING Interactive Modelling. 777 aa; Sequence (Fasta) ; (Isoform 2; Isoform 3; Isoform 4; UniProt: Canonical: P38398 (Residues: 1-110; Coverage: 6%) Gene names: BRCA1, RNF53 Sequence domains: Zinc finger, C3HC4 type (RING finger) Structure domains: Zinc/RING finger domain, C3HC4 (zinc finger The breast and ovarian cancer susceptibility protein 1 (BRCA1) plays a central role in DNA damage response (DDR). Two tandem BRCA1 C-terminal (BRCT) domains interact with several proteins that function in DDR and contain the generally accepted motif pS-X-X-F (pS denoting phosphoserine and X any amino acid), including the ATR-interacting protein (ATRIP) and the BRCA1-associated protein required for ATM activation-1 (BAAT1). BRCA1 accumulation at DNA damage sites is an important step for its function in the DNA damage response and in DNA repair. BRCA1-BRCT domains bind to proteins containing the phosphorylated serine-proline-x-phenylalanine (pSPxF) motif including Abraxas, Bach1/FancJ, and CtIP. In this study, we demonstrate that ionizing radiation (IR)-induces ATM-dependent phosphorylation of serine 404 (S404.
The BRCA1 gene is another tumor suppressor gene in human which encodes the BRCA1 protein that is involved in response to DNA damage. The protein contains a RING motif with E3 Ubiquitin Ligase activity. BRCA1 could form dimer with other molecules, such as BARD1 and BAP1, for its ubiquitination activity. Mutations that affect the ligase function are often found and associated with various cancers More details of a PTM site can be found at the UniProt isoform page, which include the genomic position, overlapping cancer mutations from TCGA and COSMIC, and CPTAC experiment details. For example, shown in Fig. 6, P38398-1 (BRCA1) p.S694 is overlapped by a COSMIC mutation and was detected in CPTAC2 retrospective BRCA cohort See also BRCA1 and BRCA2 for an extensive list of breast cancer related SNPs (including variations of all types from benign to causal). Many other variations of varying consequence are known. These include: rs1799944 (also known as N991D), risk allele G; associated with melanoma; rs766173 (also known as N289H), risk allele
Compute pI/Mw for Swiss-Prot/TrEMBL entries or a user-entered sequence Please enter one or more UniProtKB/Swiss-Prot protein identifiers (ID) (e.g. ALBU_HUMAN) or UniProt Knowledgebase accession numbers (AC) (e.g. P04406), separated by spaces, tabs or newlines.Alternatively, enter a protein sequence in single letter code BRCA1-A complex subunit Abraxas 1 UniProtKB InterPro STRING Interactive Modelling 409 aa; Sequence (Fasta) ; ( Isoform 2 ; ) It is possible new templates exist for this target since these models were created BRCA1 is a nuclear phosphoprotein that functions as a tumor suppressor. BRCA1 combines with other tumor suppressors_ DNA damage sensors_ and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC) BRCA1 is a tumour suppressor phosphoprotein that combines with other tumour suppressors, DNA damage and repair proteins, and signal transducers to form a large multi-subunit protein complex known as BRCA1-associated genome surveillance complex (BASC). Truncating mutations and missence mutations in the BRCA1 gene are found in a large number of familial breast cancer cases. Individuals who inherit a germline mutation of BRCA1 o
PARP small inhibitors have been approved for the treatment of BRCA-negative breast, ovarian and fallopian tube cancers, and it has been previously shown that human cells lacking HPF1 exhibit sensitivity to DNA damaging agents and PARP inhibition. Therefore it may be of interest to re-evaluate the potency and selectivity of existing PARP inhibitors in the presence of HPF1-PARP1/2 complexes and to develop new drugs that would specifically interfere with HPF1-mediated PARP1/2. Examples: hemoglobin, BRCA1_HUMAN. Advanced search . Feedback; PDBe › 1iy4. Solution NMR. Solution structure of the human lysozyme at 35 degree C. Released: 31 Jul 2002. DOI: 10.2210/pdb1iy4/pdb. Source organism: Homo sapiens. Primary publication: Low-temperature-induced structural changes in human lysozyme elucidated by three-dimensional NMR spectroscopy. Kumeta H, Miura A, Kobashigawa Y. In the BRCA1-ATRIP structure, Gln(+2) is accommodated through a conformational change of the BRCA1 E1698 side chain. Importantly, isothermal titration calorimetry experiments showed that the size and charge of the side chains at peptide positions +1 and +2 contribute significantly to the BRCA1 BRCT-peptide binding affinity. In particular, the Asp(+1) and Glu(+2) in the human CDC27 peptide 816.
BRCA1, serine-rich domain IPR025994 PF12820 : 1556-1614: BRCT domain IPR001357 PF00533 : 1649-1732: BRCT domain IPR001357 PF00533: Sequence Alignments . Homology models. Oligo-state QMEAN Template Range Seq id (%) Ligands; monomer -3.64 3coj.1.A: 61.79: Assess : monomer. The BIC was established as an open-access international collaboration for hosting an online BRCA1/2 mutation database, currently located at the National Human Genome Research Institute. All data obtained through the effort described here and submitted to ClinVar would automatically also be submitted to the BIC. The future of molecular genetic testing depends on having data on the clinical validity of variants, e.g. their penetrance, if we are going to make any progress. This is. An approx. 50-amino acid segment that contains four short helices (alpha 2 to alpha 4), meanders around the surface of the core structure. In BRCA2, the alpha 9 and alpha 10 helices pack with BRCA-2_OB1 through van der Waals contacts involving hydrophobic and aromatic residues, and also through side-chain and backbone hydrogen bonds
Here we identify a novel BRCA1 carboxy-terminal (BRCT) and forkhead-associated (FHA) domain-containing protein, MDC1 (mediator of DNA damage checkpoint protein 1), which works with H2AX to promote recruitment of repair proteins to the sites of DNA breaks and which, in addition, controls damage-induced cell-cycle arrest checkpoints. MDC1 forms foci that co-localize extensively with gamma-H2AX foci within minutes after exposure to ionizing radiation. H2AX is required for MDC1 foci formation. Tumor protein P53, also known as p53, cellular tumor antigen p53 (UniProt name), the Guardian of the Genome, phosphoprotein p53, tumor suppressor p53, antigen NY-CO-13, or transformation-related protein 53 (TRP53), is any isoform of a protein encoded by homologous genes in various organisms, such as TP53 (humans) and Trp53 (mice) J:46396 Jensen DE, et al., BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene. 1998 Mar 5;16(9):1097-112 Oncogene. 1998 Mar 5;16(9):1097-11
Symbol. Abraxas1. Name. BRCA1 A complex subunit. Synonyms. 3830405G04Rik, 5630400M01Rik, Ccdc98, Fam175a. Feature Type. protein coding gene. IDs UniProt. 5 Sequences. Protein Ontology. PR:000032173 BRCA1-associated ATM activator 1 (term hierarchy) InterPro Domains . IPR011989 Armadillo-like helical. IPR016024 Armadillo-type fold. IPR038904 BRCA1-associated ATM activator 1. IPR000357 HEAT repeat. Molecular Reagents less. All nucleic 35. cDNA 35. Microarray probesets 6. References more. Summaries. All 27. Gene Ontology 3. Phenotypes 3.
BRCA1-BARD1 is regulated by a conformational change mediated by the phosphorylation-directed prolyl isomerase PIN1 (601052). PIN1 activity enhances BRCA1-BARD1 interaction with RAD51, thereby increasing the presence of RAD51 at stalled replication structures. Daza-Martin et al. (2019) identified genetic variants of BRCA1-BARD1 in patients with cancer that exhibit poor protection of nascent strands but retain homologous recombination proficiency, thus defining domains of BRCA1. 12190 Ensembl ENSG00000139618 ENSMUSG00000041147 UniProt P51587 P97929 RefSeq (mRNA) NM_000059 NM_001081001 NM_009765 RefSeq (protein) NP_000050 NP_001074470 NP_033895 Location (UCSC) Chr 13: 32.32 - 32.4 Mb Chr 5: 150.52 - 150.57 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse BRCA2 repeat crystal structure of a rad51-brca2 brc repeat complex Identifiers Symbol BRCA2 Pfam. >sp|p38398-7|brca1_human breast cancer type 1 susceptibility protein os=homo sapiens gn=brca1 mdlsalrveevqnvinamqkilecpiclelikepvstkcdhifckfcmlkllnqkkgpsq. BRCA1-Cofaktor; BRCA1; c-Fos; NFE2L1; DDX21; NFE2L2; TATA-bindendes Protein; RELA; MAPK8; NCOR2; RFWD2; PIN1; FOSL1; SMAD3; ASCC3; TFIIB; CSNK2A2; CSNK2A1; STAT1; BCL6; BCL3; Receptor androgénico; STAT3; ETS2; ATF3; NAC Examples: hemoglobin, BRCA1_HUMAN Advanced search. Feedback; PDBe ; Current: Search Uniprot accession / id : P02144 OR Uniprot accession / id : P02192 OR Uniprot accession / id : P04247 OR Uniprot accession / id : Q3UVB1 OR Uniprot accession / id : Q9QZ76 OR Uniprot accession / id : B8JLC7 OR Uniprot accession / id : Q6VN46 remove all filters . Filter by : Entry Information. Entry status (1.
View mouse Babam1 Chr8:71396861-71404619 with: sequences, polymorphisms, proteins, references, functio Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however does not mediate deubiquitination of BRCA1 and BARD1. Acts as a tumor suppressor. Tissue specificity. Highly expressed in testis, placenta and ovary. Expressed in breast. Sequence similarities. Belongs to the peptidase C12 family. BAP1 subfamily. Crystal Structure of the BRCT Domains of Human BRCA1 in Complex with a Phosphorylated Peptide from Heteromer P38398; 3coj: Assess : Citrate-induced acetyl-CoA carboxylase (ACC-Cit) filament at 5.4 A resolution: homo-4-mer 6g2d: Assess : Crystal structure of human ACACA C-terminal domain: homo-2-mer 4asi: Assess : Crystal structure of human acetyl-CoA carboxylase 1, biotin carboxylase (BC. BRCA1_HUMAN (accession # P38398) in UniProt (EBI GOA_human release 28) has 9 GO terms in the Biological Process category (Table 1). Most of those terms refer to DNA repair and regulation of apoptosis. The top 10 hits of BRCA1_HUMAN searched by GFSST are listed in Table 2, one of which is P53_HUMAN. The two genes share one common GO term GO:0045786 (negative regulation of cell cycle) and 8. BARD1 (BRCA1-associated RING domain 1) (UniProt consortium, UniProtKB - Q99728 Accessed September 2015). If there is a pathogenic variant in this gene that prevents it from functioning normally, the risk of developing certain types of cancers is increased. Inheritance Hereditary predisposition to cancer due to pathogenic variants in the BARD1 gene has autosomal dominant inheritance. This. (RefSeq) abraxas 1, BRCA1 A complex subunit. KO: K20774 : BRCA1-A complex subunit Abraxas: Organism: hsa Homo sapiens (human) Pathway: hsa03440 : Homologous recombination: Brite: KEGG Orthology (KO) [BR:hsa00001] 09120 Genetic Information Processing 09124 Replication and repair 03440 Homologous recombination 84142 (ABRAXAS1) 09180 Brite Hierarchies 09182 Protein families: genetic information.