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BARD1 G623W [nucleoplasm]
Stable Identifier
R-HSA-9699148
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
BARD1 Gly623Trp
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 G623W [nucleoplasm] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q99728 BARD1
Gene Names
BARD1
Chain
chain:1-777
Reference Genes
BioGPS Gene:580 BARD1
COSMIC (genes):BARD1 BARD1
CTD Gene:580 BARD1
dbSNP Gene:580 BARD1
ENSEMBL:ENSG00000138376 BARD1
HGNC:952 BARD1
KEGG Gene (Homo sapiens):580 BARD1
Monarch:580 BARD1
NCBI Gene:580 BARD1
OMIM:601593 BARD1
UCSC:Q99728 BARD1
Reference Transcript
RefSeq:NM_001282543.1 BARD1
RefSeq:NM_000465.3 BARD1
Other Identifiers
0005390647
11756612_a_at
16907960
1801_at
205345_at
227545_at
242655_at
243156_at
2598096
2598098
2598100
2598101
2598102
2598104
2598107
2598108
2598109
2598110
2598115
2598116
2598117
2598119
2598120
2598123
2598124
2598126
2598128
2598129
2598130
46907_at
47114_at
54200_at
580
8058695
A_23_P67771
GE532417
GE59408
GE87967
GO:0000151
GO:0000729
GO:0001894
GO:0003674
GO:0003723
GO:0004842
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0006259
GO:0006260
GO:0006281
GO:0006303
GO:0006397
GO:0006464
GO:0006810
GO:0006913
GO:0006950
GO:0006974
GO:0007049
GO:0007050
GO:0007165
GO:0008150
GO:0008219
GO:0009056
GO:0009058
GO:0015031
GO:0016567
GO:0016579
GO:0016607
GO:0016740
GO:0019899
GO:0019900
GO:0031436
GO:0031441
GO:0032991
GO:0034641
GO:0036464
GO:0042325
GO:0042592
GO:0042803
GO:0043065
GO:0043066
GO:0043167
GO:0043226
GO:0045732
GO:0046826
GO:0046872
GO:0046982
GO:0070531
GO:0085020
GO:1901796
Hs.38894.0.A1_3p_at
Hs.54613.0.A1_3p_at
Hs.86617.0.A1_3p_at
ILMN_1785340
ILMN_1872456
ILMN_2074258
PH_hs_0003005
PH_hs_0003556
TC02002745.hg
TC02004804.hg
U76638_at
g4557348_3p_at
Participant Of
hasCandidate
BARD1 mutants (BRCA1 binding) [nucleoplasm]
Other forms of this molecule
BARD1 G623E [nucleoplasm]
BARD1 C71Y [nucleoplasm]
BARD1 C53W [nucleoplasm]
BARD1 W34R [nucleoplasm]
p-T714,T734-BARD1 [nucleoplasm]
K6PolyUb,p-T714,T734-BARD1 [nucleoplasm]
K6PolyUb-BARD1 [nucleoplasm]
BARD1 [nucleoplasm]
BARD1 C83G [nucleoplasm]
BARD1 C50G [nucleoplasm]
BARD1 L44R [nucleoplasm]
BARD1 H68Y [nucleoplasm]
Modified Residues
Name
glycine 623 replaced with L-tryptophan
Coordinate
623
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
Disease
Name
Identifier
Synonyms
skin melanoma
8923
malignant lip melanoma, malignant ear melanoma, malignant melanoma of ear and/or external auricular canal, cutaneous melanoma, malignant melanoma of skin of trunk except scrotum, malignant neck melanoma, malignant melanoma of skin of upper limb, malignant scalp melanoma, malignant upper limb melanoma, malignant lower limb melanoma, malignant melanoma of skin of lower limb, malignant trunk melanoma
cancer
162
malignant tumor, malignant neoplasm, primary cancer
Cross References
RefSeq
NP_000456.2
,
NP_001269472.1
COSMIC
COSM7851665
ClinGen
CA350452139
OpenTargets
ENSG00000138376
GeneCards
Q99728
HPA
ENSG00000138376-BARD1
Ensembl
ENSP00000260947
,
ENSP00000481988
,
ENST00000617164
,
ENST00000260947
,
ENSP00000480470
,
ENST00000620057
,
ENSG00000138376
PRO
Q99728
Orphanet
18430
PDB
2R1Z
,
3FA2
,
1JM7
,
3C5R
,
2NTE
Interactors (27)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P38398 BRCA1
27
SUMO1-K109-BRCA1 [nucleoplasm]
(R-HSA-2997644)
SUMO2,3-BRCA1 [nucleoplasm]
(R-HSA-2997624)
BRCA1 C64R [nucleoplasm]
(R-HSA-9700907)
BRCA1 C61G [nucleoplasm]
(R-HSA-9700890)
BRCA1 C39Y [nucleoplasm]
(R-HSA-9700938)
BRCA1 H41R [nucleoplasm]
(R-HSA-9700921)
BRCA1 C24R [nucleoplasm]
(R-HSA-9663198)
BRCA1 H41A [nucleoplasm]
(R-HSA-9700927)
BRCA1 M18T [nucleoplasm]
(R-HSA-9700911)
BRCA1 C47G [nucleoplasm]
(R-HSA-9700941)
BRCA1 C64G [nucleoplasm]
(R-HSA-9700899)
BRCA1 C44F [nucleoplasm]
(R-HSA-9700944)
BRCA1 T37R [nucleoplasm]
(R-HSA-9700934)
BRCA1 C27A [nucleoplasm]
(R-HSA-9700916)
BRCA1 H41Q [nucleoplasm]
(R-HSA-9700923)
BRCA1 Q12Tfs*5 [nucleoplasm]
(R-HSA-9700953)
BRCA1 E23Afs*18 [nucleoplasm]
(R-HSA-9700959)
BRCA1 C61Y [nucleoplasm]
(R-HSA-9700894)
BRCA1 C24F [nucleoplasm]
(R-HSA-9663206)
BRCA1 E23Rfs*18 [nucleoplasm]
(R-HSA-9700960)
BRCA1 E23Vfs*17 [nucleoplasm]
(R-HSA-9700967)
p-S988,S1387,S1423,S1524,S1547-BRCA1 [nucleoplasm]
(R-HSA-5683800)
K6PolyUb,p-S988,S1387,S1423,S1524,S1547-BRCA1 [nucleoplasm]
(R-HSA-9707298)
BRCA1 [nucleoplasm]
(R-HSA-50949)
K6PolyUb-BRCA1 [nucleoplasm]
(R-HSA-9701022)
K6PolyUb,p-S1387,S1423,S1524,S1547-BRCA1 [nucleoplasm]
(R-HSA-9707290)
p-S1387,S1423,S1524,S1547-BRCA1 [nucleoplasm]
(R-HSA-75234)
0.951
17
UniProt:O95751 LDOC1
0.781
7
UniProt:Q08379 GOLGA2
3
GOLGA2 [endoplasmic reticulum-Golgi intermediate compartment membrane]
(R-HSA-2167933)
p-S37-GOLGA2 [Golgi membrane]
(R-HSA-2172179)
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:Q13077 TRAF1
3
TRAF1(1-163) [cytosol]
(R-HSA-5634199)
TRAF1 [cytosol]
(R-HSA-5634163)
TRAF1(164-416) [cytosol]
(R-HSA-5634204)
0.556
3
UniProt:Q5JR59-3 MTUS2
0.556
3
UniProt:Q15276 RABEP1
1
RABEP1 [early endosome membrane]
(R-HSA-2029004)
0.556
3
IntAct:EBI-16435328 CCSB ORF ID
0.556
3
UniProt:Q8IZU0 FAM9B
0.556
3
UniProt:Q6A162 KRT40
1
KRT40 [cytosol]
(R-HSA-6809605)
0.556
3
UniProt:Q9BVG8-5 KIFC3
0.556
3
UniProt:Q13422-7 IKZF1
0.556
3
UniProt:Q8N720 ZNF655
1
ZNF655 [nucleoplasm]
(R-HSA-2127575)
0.556
3
UniProt:Q9Y2T1 AXIN2
4
RibC-AXIN2 [cytosol]
(R-HSA-3640842)
AXIN2 [cytosol]
(R-HSA-3640821)
Ub-RibC-AXIN2 [cytosol]
(R-HSA-3640859)
ub-AXIN2 [cytosol]
(R-HSA-4641131)
0.556
3
UniProt:O00471 EXOC5
2
EXOC5 [cytosol]
(R-HSA-5623383)
EXOC5 [cytosol]
(R-HSA-265045)
0.556
3
UniProt:P38398-1 BRCA1
0.524
3
UniProt:Q9P2H0 CE126
0.508
2
UniProt:O14776 TCRG1
0.508
2
UniProt:O95251 KAT7
1
KAT7 [nucleoplasm]
(R-HSA-3321823)
0.508
2
UniProt:Q9Y2X7 GIT1
2
GIT1 [cytosol]
(R-HSA-430326)
p-Y383-GIT1 [cytosol]
(R-HSA-3928463)
0.508
2
UniProt:Q12873 CHD3
2
SUMO1-K1971-CHD3 [nucleoplasm]
(R-HSA-8956372)
CHD3 [nucleoplasm]
(R-HSA-4657012)
0.508
2
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