ENSG00000012048


Homo sapiens

Features
Gene ID: ENSG00000012048
  
Biological name :BRCA1
  
Synonyms : BRCA1 / BRCA1, DNA repair associated / P38398
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q21.31
Gene start: 43044295
Gene end: 43170245
  
Corresponding Affymetrix probe sets: 204531_s_at (Human Genome U133 Plus 2.0 Array)   211851_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000419481
Ensembl peptide - ENSP00000419988
Ensembl peptide - ENSP00000496570
Ensembl peptide - ENSP00000495897
Ensembl peptide - ENSP00000494614
Ensembl peptide - ENSP00000489431
Ensembl peptide - ENSP00000478114
Ensembl peptide - ENSP00000467329
Ensembl peptide - ENSP00000465818
Ensembl peptide - ENSP00000465347
Ensembl peptide - ENSP00000420781
Ensembl peptide - ENSP00000420705
Ensembl peptide - ENSP00000420412
Ensembl peptide - ENSP00000420253
Ensembl peptide - ENSP00000420201
Ensembl peptide - ENSP00000312236
Ensembl peptide - ENSP00000326002
Ensembl peptide - ENSP00000350283
Ensembl peptide - ENSP00000397145
Ensembl peptide - ENSP00000417148
Ensembl peptide - ENSP00000417241
Ensembl peptide - ENSP00000417554
Ensembl peptide - ENSP00000417988
Ensembl peptide - ENSP00000418212
Ensembl peptide - ENSP00000418548
Ensembl peptide - ENSP00000418775
Ensembl peptide - ENSP00000418819
Ensembl peptide - ENSP00000418960
Ensembl peptide - ENSP00000418986
Ensembl peptide - ENSP00000419103
Ensembl peptide - ENSP00000419274
NCBI entrez gene - 672     See in Manteia.
OMIM - 113705
RefSeq - NM_007299
RefSeq - NM_007300
RefSeq - NM_007294
RefSeq - NM_007297
RefSeq - NM_007298
RefSeq Peptide - NP_009230
RefSeq Peptide - NP_009231
RefSeq Peptide - NP_009225
RefSeq Peptide - NP_009228
RefSeq Peptide - NP_009229
swissprot - A0A0A0MSN1
swissprot - A0A024R1Z8
swissprot - A0A024R1V0
swissprot - G1UI37
swissprot - H0Y850
swissprot - H0Y881
swissprot - H0Y8B8
swissprot - H0Y8D8
swissprot - K7EJW3
swissprot - K7EPC7
swissprot - P38398
swissprot - Q3B891
swissprot - E9PH68
swissprot - Q5YLB2
swissprot - E9PC22
swissprot - E7EWN5
swissprot - E7EUM2
swissprot - E7EQW4
swissprot - E7ENB7
swissprot - C9IZW4
swissprot - C6YB45
swissprot - B7ZA85
swissprot - A0A0U1RRA9
Ensembl - ENSG00000012048
  
Related genetic diseases (OMIM): 604370 - {Breast-ovarian cancer, familial, 1}, 604370
  614320 - {Pancreatic cancer, susceptibility to, 4}, 614320
  617883 - Fanconi anemia, complementation group S, 617883
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 BRCA1ENSGALG00000002781Gallus gallus
 Brca1ENSMUSG00000017146Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001357  BRCT domain
 IPR001841  Zinc finger, RING-type
 IPR011364  Breast cancer type 1 susceptibility protein (BRCA1)
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR017907  Zinc finger, RING-type, conserved site
 IPR018957  Zinc finger, C3HC4 RING-type
 IPR025994  BRCA1, serine-rich domain
 IPR027370  RING-type zinc-finger, LisH dimerisation motif
 IPR031099  BRCA1-associated
 IPR036420  BRCT domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000724 double-strand break repair via homologous recombination IDA
 biological_processGO:0000729 DNA double-strand break processing TAS
 biological_processGO:0000731 DNA synthesis involved in DNA repair TAS
 biological_processGO:0000732 strand displacement TAS
 biological_processGO:0006260 DNA replication TAS
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006301 postreplication repair IDA
 biological_processGO:0006302 double-strand break repair IDA
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining TAS
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006349 regulation of gene expression by genetic imprinting IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006359 regulation of transcription by RNA polymerase III TAS
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006633 fatty acid biosynthetic process IEA
 biological_processGO:0006915 apoptotic process TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator TAS
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007059 chromosome segregation IMP
 biological_processGO:0007098 centrosome cycle IEA
 biological_processGO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IDA
 biological_processGO:0009048 dosage compensation by inactivation of X chromosome IBA
 biological_processGO:0010212 response to ionizing radiation IMP
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production IMP
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0030521 androgen receptor signaling pathway NAS
 biological_processGO:0031398 positive regulation of protein ubiquitination IDA
 biological_processGO:0033147 negative regulation of intracellular estrogen receptor signaling pathway IMP
 biological_processGO:0035066 positive regulation of histone acetylation IDA
 biological_processGO:0035067 negative regulation of histone acetylation IBA
 biological_processGO:0042127 regulation of cell proliferation TAS
 biological_processGO:0042981 regulation of apoptotic process TAS
 biological_processGO:0043009 chordate embryonic development IBA
 biological_processGO:0043627 response to estrogen IDA
 biological_processGO:0044030 regulation of DNA methylation IEA
 biological_processGO:0044818 mitotic G2/M transition checkpoint IEA
 biological_processGO:0045717 negative regulation of fatty acid biosynthetic process IMP
 biological_processGO:0045739 positive regulation of DNA repair IMP
 biological_processGO:0045766 positive regulation of angiogenesis IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0046600 negative regulation of centriole replication NAS
 biological_processGO:0051571 positive regulation of histone H3-K4 methylation IDA
 biological_processGO:0051572 negative regulation of histone H3-K4 methylation IEA
 biological_processGO:0051573 negative regulation of histone H3-K9 methylation IDA
 biological_processGO:0051574 positive regulation of histone H3-K9 methylation IEA
 biological_processGO:0051865 protein autoubiquitination IDA
 biological_processGO:0070317 negative regulation of G0 to G1 transition TAS
 biological_processGO:0070512 positive regulation of histone H4-K20 methylation IDA
 biological_processGO:0071158 positive regulation of cell cycle arrest IDA
 biological_processGO:0071356 cellular response to tumor necrosis factor IMP
 biological_processGO:0071681 cellular response to indole-3-methanol IDA
 biological_processGO:0072425 signal transduction involved in G2 DNA damage checkpoint IMP
 biological_processGO:0085020 protein K6-linked ubiquitination IDA
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator TAS
 biological_processGO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
 biological_processGO:2000378 negative regulation of reactive oxygen species metabolic process IMP
 biological_processGO:2000617 positive regulation of histone H3-K9 acetylation IDA
 biological_processGO:2000620 positive regulation of histone H4-K16 acetylation IDA
 cellular_componentGO:0000151 ubiquitin ligase complex NAS
 cellular_componentGO:0000793 condensed chromosome IEA
 cellular_componentGO:0000794 condensed nuclear chromosome IEA
 cellular_componentGO:0000800 lateral element IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0008274 gamma-tubulin ring complex NAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031436 BRCA1-BARD1 complex IDA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0070531 BRCA1-A complex IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003684 damaged DNA binding IEA
 molecular_functionGO:0003713 transcription coactivator activity NAS
 molecular_functionGO:0003723 RNA binding IDA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0015631 tubulin binding NAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050681 androgen receptor binding NAS
 molecular_functionGO:0070063 RNA polymerase binding IDA


Pathways (from Reactome)
Pathway description
Meiotic synapsis
SUMOylation of DNA damage response and repair proteins
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Metalloprotease DUBs
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
TP53 Regulates Transcription of DNA Repair Genes
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Transcriptional Regulation by E2F6
Meiotic recombination


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000819 Diabetes mellitus 
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001433 Hepatosplenomegaly 
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 HP:0001738 Exocrine pancreatic insufficiency 
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 HP:0001824 Weight loss 
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 HP:0002017 Nausea and vomiting 
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 HP:0002019 Constipation 
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 HP:0002027 Abdominal pain 
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 HP:0002039 Anorexia 
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 HP:0002254 Intermittent diarrhea 
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 HP:0002586 Peritonitis 
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 HP:0002664 Neoplasia "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
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 HP:0002894 Pancreatic cancer 
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 HP:0002896 Liver cancer 
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0003002 Breast cancer 
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 HP:0003003 Colon cancer 
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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 HP:0003418 Back pain 
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 HP:0004389 Intestinal pseudo-obstruction 
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 HP:0004396 Poor appetite 
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 HP:0005249 Functional intestinal obstruction 
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 HP:0006725 Pancreatic adenocarcinoma 
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 HP:0011027 Abnormality of the fallopian tube "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson]
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 HP:0012125 Prostate cancer "A cancer of the `prostate` (FMA:9600)." [HPO:probinson]
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 HP:0012334 Extrahepatic cholestasis "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson]
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 HP:0012432 Chronic fatigue "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432]
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 HP:0025318 Ovarian carcinoma "A malignant neoplasm originating from the surface ovarian epithelium." []
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 HP:0030406 Primary peritoneal carcinoma "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson]
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 HP:0100592 Peritoneal abscess "The presence of an `abscess` (MPATH:608) of the `peritoneum` (FMA:9584)." [HPO:probinson]
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 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000136492 BRIP1 / Q9BX63 / BRCA1 interacting protein C-terminal helicase 1  / complex / reaction
 ENSG00000104320 NBN / nibrin / O60934  / complex / reaction
 ENSG00000139351 SYCP3 / Q8IZU3 / synaptonemal complex protein 3  / complex / reaction
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / complex / reaction
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / complex / reaction
 ENSG00000172977 KAT5 / Q92993 / lysine acetyltransferase 5  / complex / reaction
 ENSG00000101773 RBBP8 / Q99708 / RB binding protein 8, endonuclease  / complex / reaction
 ENSG00000196074 SYCP2 / Q9BX26 / synaptonemal complex protein 2  / complex / reaction
 ENSG00000106399 RPA3 / P35244 / replication protein A3  / complex / reaction
 ENSG00000111247 Q96B01 / RAD51AP1 / RAD51 associated protein 1  / complex
 ENSG00000132383 RPA1 / P27694 / replication protein A1  / complex / reaction
 ENSG00000083093 PALB2 / Q86YC2 / partner and localizer of BRCA2  / complex
 ENSG00000138376 BARD1 / Q99728 / BRCA1 associated RING domain 1  / complex / reaction
 ENSG00000175643 RMI2 / Q96E14 / RecQ mediated genome instability 2  / complex / reaction
 ENSG00000051180 RAD51 / Q06609 / RAD51 recombinase  / complex
 ENSG00000165392 WRN / Q14191 / Werner syndrome RecQ like helicase  / complex / reaction
 ENSG00000117748 RPA2 / P15927 / replication protein A2  / complex / reaction
 ENSG00000178966 RMI1 / Q9H9A7 / RecQ mediated genome instability 1  / complex / reaction
 ENSG00000184900 SUMO3 / P55854 / small ubiquitin-like modifier 3  / reaction
 ENSG00000177302 TOP3A / Q13472 / DNA topoisomerase III alpha  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000164053 ATRIP / Q8WXE1 / ATR interacting protein  / complex / reaction
 ENSG00000188612 SUMO2 / P61956 / small ubiquitin-like modifier 2  / reaction
 ENSG00000138346 DNA2 / P51530 / DNA replication helicase/nuclease 2  / complex / reaction
 ENSG00000174371 EXO1 / Q9UQ84 / exonuclease 1  / complex / reaction
 ENSG00000175054 ATR / Q13535 / ATR serine/threonine kinase  / complex / reaction
 ENSG00000197299 BLM / P54132 / Bloom syndrome RecQ like helicase  / complex / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / reaction / complex
 ENSG00000139618 BRCA2 / P51587 / BRCA2, DNA repair associated  / complex
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / complex / reaction
 ENSG00000168148 Q16695 / HIST3H3 / histone cluster 3 H3  / complex / reaction
 ENSG00000188486 H2AFX / P16104 / H2A histone family member X  / complex / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex / reaction






 

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