Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BRCA1 Gene

protein-coding GIFtS: 71
GCID: GC17M041197

breast cancer 1, early onset

Explore 125 diseases affiliated with
BRCA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Breast Cancer 1, Early Onset¹ ²		IRIS²
RNF53¹ ² ³		BRCA1/BRCA2-Containing Complex, Subunit 1²
BRCC1¹ ²		Breast And Ovarian Cancer Susceptibility Protein 1²
PPP1R53¹ ²		Breast And Ovarian Cancer Sususceptibility Protein 1²
RING Finger Protein 53² ³		Breast Cancer Type 1 Susceptibility Protein²
BROVCA1² ⁵		Protein Phosphatase 1, Regulatory Subunit 53²
PNCA4² ⁵		EC 6.3.2.-³
PSCP² ⁵		EC 6.3.2⁸
BRCAI²

External Ids:	HGNC: 1100¹	Entrez Gene: 672²	Ensembl: ENSG00000012048⁷	OMIM: 113705⁵	UniProtKB: P38398³

ORGUL members:
	NONCODE:n407962

Export aliases for BRCA1 gene to outside databases

Previous GC identifers: GC17P062255 GC17M043361 GC17M041105 GC17M041569 GC17M038450 GC17M036962

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BRCA1:

This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a

tumor suppressor. 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 surveillance complex

(BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with

histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks,

and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more

than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular

localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which

are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these

variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified.

(provided by RefSeq, May 2009)

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398

Function: 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. It is unclear whether it also

mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required

for its tumor suppressor function. 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 normal cell cycle progression from G2 to mitosis. Required for

appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle.

Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA

damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated

ACACA and preventing its dephosphorylation. 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. 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

Gene Wiki entry for BRCA1 (Talk:BRCA1)

PharmGKB "VIP" summary for BRCA1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BRCA1 gene promoter:
ATF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BRCA1 promoter sequence

Search SABiosciences Chromatin IP Primers for BRCA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRCA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21.31

BRCA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRCA1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M041197: view genomic region (about GC identifiers)

Start:	41,196,312 bp from pter	End:	41,322,290 bp from pter
Size:	125,979 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398 (See protein sequence)

Recommended Name: Breast cancer type 1 susceptibility protein

Size: 1863 amino acids; 207721 Da

Subunit: Heterodimer with BARD1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1,

MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the MRE11-RAD50-NBN protein (MRN) complex. This association could be a dynamic

process changing throughout the cell cycle and within subnuclear domains. Component of the BRCA1-A complex, at least

composed of the BRCA1, BARD1, UIMC1, BRCC3, BRE and BABAM1. Interacts (via the BRCT domains) with FAM175A. Component

of the BRCA1-RBBP8 complex. Interacts (via the BRCT domains) with RBBP8 ('Ser-327' phosphorylated form); the

interaction ubiquitinates RBBP8, regulates CHEK1 activation, and involves RBBP8 in BRCA1-dependent G2/M checkpoint

control on DNA damage. Associates with RNA polymerase II holoenzyme. Interacts with SMC1A and COBRA1. Interacts (via

BRCT domains) with BRIP1 (phosphorylated form). Interacts with FANCD2 (ubiquitinated form). Interacts with BAP1.

Interacts with DCLRE1C and CLSPN. Interacts with H2AFX (phosphorylated on 'Ser-140'). Interacts with CHEK1 and CHEK2.

Interacts with BRCC3. Interacts (via the BRCT domains) with ACACA (phosphorylated form); the interaction prevents

dephosphorylation of ACACA. Interacts with AURKA. Interacts with UBXN1. Part of a trimeric complex containing BRCA1,

BRCA2 and PALB2. Interacts directly with PALB2; the interaction is essential for its function in HRR. Interacts

directly with BRCA2; the interaction occurs only in the presence of PALB2 which serves as the bridging protein.

Interacts (via the BRCT domains) with LMO4; the interaction represses the transcriptional activity of BRCA1. Interacts

with KIAA0101/PAF15

Subcellular location: Nucleus. Chromosome (By similarity). Note=Localizes at sites of DNA damage at double-strand

breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex

Subcellular location: Isoform 3: Cytoplasm

Subcellular location: Isoform 5: Cytoplasm

6/20 PDB 3D structures from and Proteopedia for BRCA1 (see all 20):

1JM7 (3D)

1JNX (3D)

1N5O (3D)

1OQA (3D)

1T15 (3D)

1T29 (3D)

Secondary accessions: O15129 Q3LRJ0 Q3LRJ6 Q6IN79 Q7KYU9

Alternative splicing, Alternative initiation: 6 isoforms: P38398-1 P38398-2 P38398-3 P38398-4 P38398-5 P38398-6 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BRCA1: NX_P38398

Post-translational modifications:

Phosphorylation at Ser-308 by AURKA is required for normal cell cycle progression from G2 to mitosis. Phosphorylated in

response to IR, UV, and various stimuli that cause checkpoint activation, probably by ATM or ATR. Phosphorylation at

Ser-988 by CHEK2 regulates mitotic spindle assembly¹

Autoubiquitinated, undergoes 'Lys-6'-linked polyubiquitination. 'Lys-6'-linked polyubiquitination does not promote

degradation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P38398

4/51 DME Specific Peptides for BRCA1 (P38398) (see all 51)

AKCSIKG

GRNHQGP

CPICLEL

ITKRSLQ

BRCA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_009225.1 NP_009228.2 NP_009229.2 NP_009230.2 NP_009231.2

ENSEMBL proteins:

ENSP00000350283 ENSP00000417148 ENSP00000465818 ENSP00000467329 ENSP00000465347

ENSP00000418775 ENSP00000418960 ENSP00000418548 ENSP00000420705 ENSP00000419481

ENSP00000420412 ENSP00000418819 ENSP00000418212 ENSP00000417241 ENSP00000397145

ENSP00000419274 ENSP00000419988 ENSP00000420253 ENSP00000418986 ENSP00000419103

ENSP00000420201 ENSP00000417554 ENSP00000417988 ENSP00000420781 ENSP00000326002

ENSP00000312236 ENSP00000246907 ENSP00000338007 ENSP00000377294 ENSP00000310938

Reactome Protein details: P38398
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for BRCA1
	GenScript Custom Purified and Recombinant Proteins Services for BRCA1
	Novus Biologicals BRCA1 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for BRCA1

Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000151	ubiquitin ligase complex	NAS	14976165
GO:0000793	condensed chromosome	--	--
GO:0000794	condensed nuclear chromosome	--	--
GO:0001726	ruffle	IDA	--
GO:0005634	nucleus	IDA	17643121

BRCA1 for ontologies About GeneDecksing

BRCA1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of BRCA1
	R&D Systems Antibodies for BRCA1
	Cell Signaling Technology (CST) Antibodies for BRCA1
	OriGene Antibodies (see all 6): BRCA1 OriGene Custom Antibody Services for BRCA1
	GenScript Superior Antibodies for BRCA1
	Novus Biologicals BRCA1 Antibodies
	Search for Antibodies for BRCA1 at Abcam
	Uscn Antibodies for BRCA1
	ThermoFisher Antibodies for BRCA1

Assay Products for BRCA1:

	EMD Millipore Kits and Assays for the Analysis of BRCA1
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for BRCA1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BRCA1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BRCA1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR017907 Znf_RING_CS

IPR001841 Znf_RING

IPR011364 BRCA1

IPR018957 Znf_C3HC4_RING-type

IPR013083 Znf_RING/FYVE/PHD

Graphical View of Domain Structure for InterPro Entry P38398

ProtoNet protein and cluster: P38398

3 Blocks protein families:

IPB001357 BRCT domain

IPB001841 Zn-finger

IPB002378 Breast cancer type I susceptibility protein signature

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398

Domain: The BRCT domains recognize and bind phosphorylated pSXXF motif on proteins. The interaction with the

phosphorylated pSXXF motif of FAM175A/Abraxas, recruits BRCA1 at DNA damage sites

Domain: The RING-type zinc finger domain interacts with BAP1

Similarity: Contains 2 BRCT domains

Similarity: Contains 1 RING-type zinc finger

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary: