Reactome | BARD1 G623W [nucleoplasm]

BARD1 G623W [nucleoplasm]

Stable Identifier

R-HSA-9699148

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

BARD1 Gly623Trp

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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 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

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:0006302

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

HMNXSV003025068

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

Participates

as a candidate of

BARD1 mutants (BRCA1 binding) [nucleoplasm] (Homo sapiens)

Other forms of this molecule

BARD1 G623E [nucleoplasm]

BARD1 C71Y [nucleoplasm]

BARD1 C53W [nucleoplasm]

BARD1 W34R [nucleoplasm]

BARD1 H68Y [nucleoplasm]

BARD1 L44R [nucleoplasm]

p-T714,T734-BARD1 [nucleoplasm]

K6PolyUb,p-T714,T734-BARD1 [nucleoplasm]

K6PolyUb-BARD1 [nucleoplasm]

BARD1 [nucleoplasm]

BARD1 C83G [nucleoplasm]

BARD1 C50G [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
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
skin melanoma	DOID: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

Cross References

RefSeq

NP_001269472.1, NP_000456.2

COSMIC

COSV99640017

ClinGen

CA350452139

OpenTargets

ENSG00000138376

IntEnz

2.3.2.27

GeneCards

Q99728

HPA

ENSG00000138376-BARD1

Ensembl

ENSP00000480470, ENST00000620057, ENSG00000138376, ENST00000617164, ENST00000260947, ENSP00000481988, ENSP00000260947

PRO

Q99728

Pharos - Targets

Q99728

Orphanet

18430

PDB

2R1Z, 3C5R, 2NTE, 1JM7, 7JZV, 6M14, 3FA2

Interactors (27)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P38398 BRCA1	20	BRCA1 Y1127Sfs6 [nucleoplasm] (R-HSA-9703780) BRCA1 N555Kfs17 [nucleoplasm] (R-HSA-9703781) BRCA1 M1411T [nucleoplasm] (R-HSA-9702140) BRCA1 P897Kfs5 [nucleoplasm] (R-HSA-9703782) SUMO2,3-BRCA1 [nucleoplasm] (R-HSA-2997624) BRCA1 L1407P [nucleoplasm] (R-HSA-9702135) BRCA1 V83Cfs2 [nucleoplasm] (R-HSA-9703800) BRCA1 M1400V [nucleoplasm] (R-HSA-9701202) BRCA1 S886Cfs16 [nucleoplasm] (R-HSA-9703802) BRCA1 V340Gfs6 [nucleoplasm] (R-HSA-9703804) BRCA1 G813Dfs2 [nucleoplasm] (R-HSA-9703549) BRCA1 S1009 [nucleoplasm] (R-HSA-9702755) BRCA1 Y777* [nucleoplasm] (R-HSA-9702765) BRCA1 T464Pfs11 [nucleoplasm] (R-HSA-9703807) SUMO1-K109-BRCA1 [nucleoplasm] (R-HSA-2997644) BRCA1 S864 [nucleoplasm] (R-HSA-9702752) BRCA1 W372* [nucleoplasm] (R-HSA-9702768) BRCA1 Y655* [nucleoplasm] (R-HSA-9702769) BRCA1 S451* [nucleoplasm] (R-HSA-9702754) BRCA1 P724Lfs*12 [nucleoplasm] (R-HSA-9703778)	0.951	17
UniProt:O95751 LDOC1			0.781	7
UniProt:Q08379 GOLGA2	3	GOLGA2 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-2167933) GOLGA2 [Golgi membrane] (R-HSA-6808764) p-S37-GOLGA2 [Golgi membrane] (R-HSA-2172179)	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:O00471 EXOC5	2	EXOC5 [cytosol] (R-HSA-265045) EXOC5 [cytosol] (R-HSA-5623383)	0.556	3
UniProt:Q8NHQ1 CEP70	1	CEP70 [cytosol] (R-HSA-380257)	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	ub-AXIN2 [cytosol] (R-HSA-4641131) RibC-AXIN2 [cytosol] (R-HSA-3640842) AXIN2 [cytosol] (R-HSA-3640821) Ub-RibC-AXIN2 [cytosol] (R-HSA-3640859)	0.556	3
UniProt:Q13077 TRAF1	3	TRAF1(1-163) [cytosol] (R-HSA-5634199) TRAF1(164-416) [cytosol] (R-HSA-5634204) TRAF1 [cytosol] (R-HSA-5634163)	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:Q12873 CHD3	2	CHD3 [nucleoplasm] (R-HSA-4657012) SUMO1-K1971-CHD3 [nucleoplasm] (R-HSA-8956372)	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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