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Protein

Breast cancer type 1 susceptibility protein

Gene

BRCA1

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score: Annotation score: 3 out of 5-Protein predictedi

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. 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.UniRule annotation

Catalytic activityi

S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N6-ubiquitinyl-[acceptor protein]-L-lysine.UniRule annotation

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-bindingUniRule annotation
Biological processCell cycleUniRule annotation, DNA damage, DNA recombinationUniRule annotation, DNA repairUniRule annotation, Ubl conjugation pathwayUniRule annotation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Breast cancer type 1 susceptibility proteinUniRule annotation (EC:2.3.2.27UniRule annotation)
Gene namesi
Name:BRCA1Imported
ORF Names:hCG_16943Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Organism-specific databases

EuPathDBiHostDB:ENSG00000012048.20.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

ChromosomeUniRule annotation, NucleusUniRule annotation

Expressioni

Gene expression databases

BgeeiENSG00000012048.

Interactioni

Subunit structurei

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 BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. Interacts (via the BRCT domains) with ABRAXAS1 (phosphorylated form); this is important for recruitment to sites of DNA damage. Can form a heterotetramer with two molecules of ABRAXAS1 (phosphorylated form). 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, COBRA1, DCLRE1C, CLSPN. CHEK1, CHEK2, BAP1, BRCC3, AURKA, UBXN1 and PCLAF. Interacts (via BRCT domains) with BRIP1 (phosphorylated form). Interacts with FANCD2 (ubiquitinated form). Interacts with H2AFX (phosphorylated on 'Ser-140'). Interacts (via the BRCT domains) with ACACA (phosphorylated form); the interaction prevents dephosphorylation of ACACA. Part of a BRCA 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 (via the BRCT domains) with CCAR2 (via N-terminus); the interaction represses the transcriptional activator activity of BRCA1. Interacts with EXD2.UniRule annotation

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 65RING-typeInterPro annotationAdd BLAST42
Domaini538 – 632BRCTInterPro annotationAdd BLAST95
Domaini652 – 751BRCTInterPro annotationAdd BLAST100

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili294 – 321Sequence analysisAdd BLAST28

Keywords - Domaini

Coiled coilSequence analysis, Zinc-fingerPROSITE-ProRule annotationSAAS annotation

Phylogenomic databases

eggNOGiENOG410ITQ4. Eukaryota.
ENOG4112BIH. LUCA.

Family and domain databases

CDDicd00027. BRCT. 2 hits.
Gene3Di3.30.40.10. 1 hit.
3.40.50.10190. 2 hits.
InterProiView protein in InterPro
IPR011364. BRCA1.
IPR031099. BRCA1-associated.
IPR001357. BRCT_dom.
IPR036420. BRCT_dom_sf.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
PANTHERiPTHR13763. PTHR13763. 2 hits.
PTHR13763:SF0. PTHR13763:SF0. 2 hits.
PfamiView protein in Pfam
PF00533. BRCT. 2 hits.
PF00097. zf-C3HC4. 1 hit.
PIRSFiPIRSF001734. BRCA1. 2 hits.
SMARTiView protein in SMART
SM00292. BRCT. 2 hits.
SM00184. RING. 1 hit.
SUPFAMiSSF52113. SSF52113. 2 hits.
PROSITEiView protein in PROSITE
PS50172. BRCT. 2 hits.
PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.

Sequencei

Sequence statusi: Complete.

A0A024R1V0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK
60 70 80 90 100
LLNQKKGPSQ CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE
110 120 130 140 150
YANSYNFAKK ENNSPEHLKD EVSIIQSMGY RNRAKRLLQS EPENPSLQET
160 170 180 190 200
SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI ELGSDSSEDT VNKATYCSVG
210 220 230 240 250
DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ PSNNDLNTTE
260 270 280 290 300
KRAAERHPEK YQGEAASGCE SETSVSEDCS GLSSQSDILT TQQRDTMQHN
310 320 330 340 350
LIKLQQEMAE LEAVLEQHGS QPSNSYPSII SDSSALEDLR NPEQSTSEKV
360 370 380 390 400
LTSQKSSEYP ISQNPEGLSA DKFEVSADSS TSKNKEPGVE RSSPSKCPSL
410 420 430 440 450
DDRWYMHSCS GSLQNRNYPS QEELIKVVDV EEQQLEESGP HDLTETSYLP
460 470 480 490 500
RQDLEGTPYL ESGISLFSDD PESDPSEDRA PESARVGNIP SSTSALKVPQ
510 520 530 540 550
LKVAESAQSP AAAHTTDTAG YNAMEESVSR EKPELTASTE RVNKRMSMVV
560 570 580 590 600
SGLTPEEFML VYKFARKHHI TLTNLITEET THVVMKTDAE FVCERTLKYF
610 620 630 640 650
LGIAGGKWVV SYFWVTQSIK ERKMLNEHDF EVRGDVVNGR NHQGPKRARE
660 670 680 690 700
SQDRKIFRGL EICCYGPFTN MPTDQLEWMV QLCGASVVKE LSSFTLGTGV
710 720 730 740 750
HPIVVVQPDA WTEDNGFHAI GQMCEAPVVT REWVLDSVAL YQCQELDTYL

IPQIPHSHY
Length:759
Mass (Da):85,001
Last modified:July 9, 2014 - v1
Checksum:i29C7B9FF1660BD5C
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CH471152 Genomic DNA. Translation: EAW60925.1.
CH471152 Genomic DNA. Translation: EAW60932.1.
RefSeqiNP_009229.2. NM_007298.3.
UniGeneiHs.194143.

Genome annotation databases

GeneIDi672.

Similar proteinsi

Entry informationi

Entry nameiA0A024R1V0_HUMAN
AccessioniPrimary (citable) accession number: A0A024R1V0
Entry historyiIntegrated into UniProtKB/TrEMBL: July 9, 2014
Last sequence update: July 9, 2014
Last modified: October 25, 2017
This is version 33 of the entry and version 1 of the sequence. See complete history.
Entry statusiUnreviewed (UniProtKB/TrEMBL)
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.