Reactome | BARD1 L44R [nucleoplasm]

BARD1 L44R [nucleoplasm]

Stable Identifier

R-HSA-9699126

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

BARD1 Leu44Arg

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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 L44R [nucleoplasm] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
26350354	Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks Lee, C, Banerjee, T, Gillespie, J, Ceravolo, A, Parvinsmith, MR, Starita, LM, Fields, S, Toland, AE, Parvin, JD	Hum. Mutat.	2015
11773071	Identification of residues required for the interaction of BARD1 with BRCA1 Morris, JR, Keep, NH, Solomon, E	J. Biol. Chem.	2002

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

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 G623W [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 H68Y [nucleoplasm]

Modified Residues

Name

L-leucine 44 replaced with L-arginine

Coordinate

PsiMod

L-arginine residue [MOD:00011]

A protein modification that effectively converts a source amino acid residue to an L-arginine.

L-leucine removal [MOD:01641]

A protein modification that effectively removes or replaces an L-leucine.

Disease

Name	Identifier	Synonyms
cancer	162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

NP_000456.2, NP_001269472.1

ClinGen

CA350464892

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 Q12Tfs5 [nucleoplasm] (R-HSA-9700953) BRCA1 E23Afs18 [nucleoplasm] (R-HSA-9700959) BRCA1 C61Y [nucleoplasm] (R-HSA-9700894) BRCA1 C24F [nucleoplasm] (R-HSA-9663206) BRCA1 E23Rfs18 [nucleoplasm] (R-HSA-9700960) BRCA1 E23Vfs17 [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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