BARD1 and NPC2

Data Source:
BioGRID (two hybrid, affinity chromatography technology)

		BARD1	NPC2
Description		BRCA1 associated RING domain 1	NPC intracellular cholesterol transporter 2
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GO Annotations	Cellular Component	Ubiquitin Ligase Complex Nucleus Nucleoplasm Cytoplasm Nuclear Speck BRCA1-BARD1 Complex Cytoplasmic Ribonucleoprotein Granule BRCA1-A Complex	Extracellular Region Extracellular Space Lysosome Endoplasmic Reticulum Azurophil Granule Lumen Lysosomal Lumen Extracellular Exosome
	Molecular Function	RNA Binding Ubiquitin-protein Transferase Activity Protein Binding Kinase Binding Protein Homodimerization Activity Metal Ion Binding Protein Heterodimerization Activity	Protein Binding Cholesterol Binding Enzyme Binding Sterol Binding Cholesterol Transfer Activity
	Biological Process	DNA Double-strand Break Processing Tissue Homeostasis DNA Replication Double-strand Break Repair Via Nonhomologous End Joining Cellular Response To DNA Damage Stimulus Cell Cycle Arrest Protein Ubiquitination Protein Deubiquitination Negative Regulation Of MRNA 3'-end Processing Regulation Of Phosphorylation Positive Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Positive Regulation Of Protein Catabolic Process Negative Regulation Of Protein Export From Nucleus Protein K6-linked Ubiquitination Regulation Of Signal Transduction By P53 Class Mediator	Cholesterol Metabolic Process Response To Virus Phospholipid Transport Sterol Transport Regulation Of Isoprenoid Metabolic Process Cholesterol Transport Intracellular Sterol Transport Intracellular Cholesterol Transport Cholesterol Efflux Low-density Lipoprotein Particle Clearance Cholesterol Homeostasis Neutrophil Degranulation Glycolipid Transport Intermembrane Lipid Transfer
Pathways		HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) UCH proteinases Metalloprotease DUBs Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Defective DNA double strand break response due to BRCA1 loss of function Defective DNA double strand break response due to BARD1 loss of function	Neutrophil degranulation LDL clearance
Drugs
Diseases			Niemann-Pick type C disease (NPC), including: Niemann-Pick disease, type C1; Niemann-Pick disease, type C2
GWAS		Feeling fed-up ( 29500382) General risk tolerance (MTAG) ( 30643258) Neuroblastoma ( 22941191 21124317) Neuroblastoma (high-risk) ( 19412175) Neuroblastoma (MYCN amplification) ( 28924153) Neurociticism ( 29500382) Sporadic neuroblastoma ( 28545128)	Advanced glycation end-product levels ( 26915486) Blood protein levels ( 29875488) Intraocular pressure ( 31959993) Refractive error ( 32231278)
Interacting Genes		125 interacting genes: ACP1 AKIP1 AP1B1 ASH2L ATP1B1 ATP1B3 AXIN2 BCCIP BCL3 BRCA1 BRD7 CAP1 CBX1 CBX3 CBX5 CCDC136 CDK1 CDK2 CEP70 CHD3 CNTN4 COL1A1 COMMD1 CSTF1 DCC DDX39B DNAI7 ELP1 ESR1 EWSR1 EXOC5 FAM9B FEZ1 FKBP1A FKBP2 FKBP3 FUCA1 GIT1 GOLGA2 GPRASP2 H2AC20 H2AX H2BC21 HAP1 HNRNPC HNRNPLL HSF2BP HSPA14 IDI1 IKZF1 ING5 KAT5 KAT7 KBTBD7 KIFC3 KRT40 LDOC1 LGALS8 LRIF1 MACROH2A1 MAGED1 MDC1 MRPS22 MSH2 MSH3 MSH6 MT-ND1 MT2A MTUS2 NFKBIA NPC2 PCBP2 PDXK PDZD8 PIAS1 PIAS4 PIN1 POLR2A POLR2H POMZP3 POU2F1 PSMA7 PTN RABEP1 RAD51 RBBP8 RBMY2BP RPS20 SELENBP1 SETDB1 SMCHD1 SNRNP200 SNX3 SPAG5 SRSF2 TCERG1 TERF2 TMEM248 TOP1 TP53 TRAF1 TRAPPC11 TRAPPC8 TULP2 UBC UBE2D1 UBE2D2 UBE2D3 UBE2E1 UBE2E2 UBE2E3 UBE2K UBE2N UBE2U UBE2W UBE3A UBR5 UBXN1 WDR61 WRN XRCC6 ZFP64 ZHX1 ZNF121 ZNF655	9 interacting genes: BARD1 BRCA1 DHDDS ECT2 ERRFI1 LIG4 PAXIP1 TRIM14 USP4
Entrez ID		580	10577
HPRD ID		03354	03008
Ensembl ID		ENSG00000138376	ENSG00000119655
Uniprot IDs		A0A087WZ19 A0AVN2 C9IYG1 F6MDI0 F6MDI1 F6MDI2 Q99728	A0A024R6C0 P61916
PDB IDs		1JM7 2NTE 2R1Z 3C5R 3FA2	5KWY 6W5V
Enriched GO Terms of Interacting Partners?
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