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BARD1 C50G [nucleoplasm]
Stable Identifier
R-HSA-9699137
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
BARD1 Cys50Gly
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of DNA repair (Homo sapiens)
Diseases of DNA Double-Strand Break Repair (Homo sapiens)
Defective DNA double strand break response due to BARD1 loss of function (Homo sapiens)
Defective BARD1 does not bind BRCA1 (Homo sapiens)
BARD1 mutants (BRCA1 binding) [nucleoplasm] (Homo sapiens)
BARD1 C50G [nucleoplasm] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
12431996
Enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein
Pao, GM
,
Xia, Y
,
Verma, IM
,
Chen, HW
,
Hunter, T
J. Biol. Chem.
2003
External Reference Information
External Reference
UniProt:Q99728 BARD1
Gene Names
BARD1
Chain
chain:1-777
Reference Genes
COSMIC (genes):BARD1 BARD1
dbSNP Gene:580 BARD1
ENSEMBL:ENSG00000138376 BARD1
Participates
as a candidate of
BARD1 mutants (BRCA1 binding) [nucleoplasm] (Homo sapiens)
Other forms of this molecule
K6PolyUb,p-T714,T734-BARD1 [nucleoplasm]
p-T714,T734-BARD1 [nucleoplasm]
BARD1 [nucleoplasm]
K6PolyUb-BARD1 [nucleoplasm]
BARD1 C83G [nucleoplasm]
BARD1 L44R [nucleoplasm]
BARD1 H68Y [nucleoplasm]
BARD1 W34R [nucleoplasm]
BARD1 G623W [nucleoplasm]
BARD1 C53W [nucleoplasm]
BARD1 C71Y [nucleoplasm]
BARD1 G623E [nucleoplasm]
Modified Residues
Name
L-cysteine 50 replaced with glycine
Coordinate
50
PsiMod
L-cysteine removal [MOD:01635]
A protein modification that effectively removes or replaces an L-cysteine.
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
Disease
Name
Identifier
Synonyms
cancer
DOID:162
malignant tumor, malignant neoplasm, primary cancer
Cross References
ClinGen
CA350464764
Interactors (27)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P38398 BRCA1
20
polySUMO2,3-BRCA1 [nucleoplasm]
(R-HSA-2997624)
monoSUMO1-K109-BRCA1 [nucleoplasm]
(R-HSA-2997644)
BRCA1 M1411T [nucleoplasm]
(R-HSA-9702140)
BRCA1 M1400V [nucleoplasm]
(R-HSA-9701202)
BRCA1 L1407P [nucleoplasm]
(R-HSA-9702135)
BRCA1 Y777* [nucleoplasm]
(R-HSA-9702765)
BRCA1 S1009* [nucleoplasm]
(R-HSA-9702755)
BRCA1 P724Lfs*12 [nucleoplasm]
(R-HSA-9703778)
BRCA1 S451* [nucleoplasm]
(R-HSA-9702754)
BRCA1 S864* [nucleoplasm]
(R-HSA-9702752)
BRCA1 P897Kfs*5 [nucleoplasm]
(R-HSA-9703782)
BRCA1 N555Kfs*17 [nucleoplasm]
(R-HSA-9703781)
BRCA1 Y1127Sfs*6 [nucleoplasm]
(R-HSA-9703780)
BRCA1 S886Cfs*16 [nucleoplasm]
(R-HSA-9703802)
BRCA1 V83Cfs*2 [nucleoplasm]
(R-HSA-9703800)
BRCA1 T464Pfs*11 [nucleoplasm]
(R-HSA-9703807)
BRCA1 G813Dfs*2 [nucleoplasm]
(R-HSA-9703549)
BRCA1 V340Gfs*6 [nucleoplasm]
(R-HSA-9703804)
BRCA1 Y655* [nucleoplasm]
(R-HSA-9702769)
BRCA1 W372* [nucleoplasm]
(R-HSA-9702768)
0.958
20
UniProt:O95751 LDOC1
0.781
7
UniProt:Q08379 GOLGA2
3
p-S37-GOLGA2 [Golgi membrane]
(R-HSA-2172179)
GOLGA2 [endoplasmic reticulum-Golgi intermediate compartment membrane]
(R-HSA-2167933)
GOLGA2 [Golgi membrane]
(R-HSA-6808764)
0.718
6
UniProt:P33240 CSTF2
1
CSTF2 [nucleoplasm]
(R-HSA-72003)
0.702
8
ChEBI:61151 PAR
0.65
9
UniProt:Q05048 CSTF1
1
CSTF1 [nucleoplasm]
(R-HSA-72001)
0.581
4
UniProt:O95453 PARN
1
PARN [cytosol]
(R-HSA-430009)
0.577
4
ChEBI:16864 ADP-RIBOSE
0.558
2
UniProt:O75031 HSF2B
0.556
3
UniProt:Q8NHQ1 CEP70
1
CEP70 [cytosol]
(R-HSA-380257)
0.556
3
UniProt:Q5JR59-3 MTUS2
0.556
3
UniProt:O00471 EXOC5
2
EXOC5 [cytosol]
(R-HSA-265045)
EXOC5 [cytosol]
(R-HSA-5623383)
0.556
3
UniProt:Q9Y2T1 AXIN2
4
AXIN2 [cytosol]
(R-HSA-3640821)
ub-AXIN2 [cytosol]
(R-HSA-4641131)
RibC-AXIN2 [cytosol]
(R-HSA-3640842)
Ub-RibC-AXIN2 [cytosol]
(R-HSA-3640859)
0.556
3
UniProt:Q13077 TRAF1
3
TRAF1 [cytosol]
(R-HSA-5634163)
TRAF1(1-163) [cytosol]
(R-HSA-5634199)
TRAF1(164-416) [cytosol]
(R-HSA-5634204)
0.556
3
UniProt:Q8N720 ZNF655
1
ZNF655 [nucleoplasm]
(R-HSA-2127575)
0.556
3
UniProt:Q13422-7 IKZF1
0.556
3
UniProt:Q9BVG8-5 KIFC3
0.556
3
UniProt:Q6A162 KRT40
1
KRT40 [cytosol]
(R-HSA-6809605)
0.556
3
UniProt:Q8IZU0 FAM9B
0.556
3
IntAct:EBI-16435328 CCSB ORF ID
0.556
3
UniProt:Q15276 RABEP1
1
RABEP1 [early endosome membrane]
(R-HSA-2029004)
0.556
3
UniProt:P38398-1 BRCA1
0.524
3
UniProt:Q9P2H0 CE126
0.508
2
UniProt:O95251 KAT7
1
KAT7 [nucleoplasm]
(R-HSA-3321823)
0.508
2
UniProt:Q12873 CHD3
2
CHD3 [nucleoplasm]
(R-HSA-4657012)
monoSUMO1-K1971-CHD3 [nucleoplasm]
(R-HSA-8956372)
0.508
2
UniProt:O14776 TCERG1
1
TCERG1 [nucleoplasm]
(R-HSA-3246027)
0.508
2
UniProt:Q9Y2X7 GIT1
2
GIT1 [cytosol]
(R-HSA-430326)
p-Y383-GIT1 [cytosol]
(R-HSA-3928463)
0.508
2
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