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

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 C50G [nucleoplasm]

BARD1 L44R [nucleoplasm]

BARD1 H68Y [nucleoplasm]

BARD1 W34R [nucleoplasm]

BARD1 C53W [nucleoplasm]

BARD1 C71Y [nucleoplasm]

BARD1 G623E [nucleoplasm]

Modified Residues

Name

glycine 623 replaced with L-tryptophan

Coordinate

623

PsiMod

L-tryptophan residue [MOD:00027]

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

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

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

COSMIC

COSV99640017

ClinGen

CA350452139

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 P724Lfs12 [nucleoplasm] (R-HSA-9703778) BRCA1 S451 [nucleoplasm] (R-HSA-9702754) BRCA1 S864* [nucleoplasm] (R-HSA-9702752) BRCA1 P897Kfs5 [nucleoplasm] (R-HSA-9703782) BRCA1 N555Kfs17 [nucleoplasm] (R-HSA-9703781) BRCA1 Y1127Sfs6 [nucleoplasm] (R-HSA-9703780) BRCA1 S886Cfs16 [nucleoplasm] (R-HSA-9703802) BRCA1 V83Cfs2 [nucleoplasm] (R-HSA-9703800) BRCA1 T464Pfs11 [nucleoplasm] (R-HSA-9703807) BRCA1 G813Dfs2 [nucleoplasm] (R-HSA-9703549) BRCA1 V340Gfs6 [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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