Search Results for: NPC2

19 interactions involving NPC2 - NPC intracellular cholesterol transporter 2 found:

Sort by: Symbol Number of Pathways Number of Drugs Number of Diseases
Novel Symbol Description Pathways Hide Drugs Hide Diseases Hide
Novel AREL1 apoptosis resistant E3 ubiquitin protein ligase 1
  • Antigen processing: Ubiquitination & Proteasome degradation
Novel CTSW cathepsin W
  • Platelet degranulation
Novel EIF2B2 eukaryotic translation initiation factor 2B subunit beta
  • Recycling of eIF2:GDP
  • Leukoencephalopathy with vanishing white matter; Vanishing white matter disease; Childhood ataxia with diffuse central nervous system hypomyelination (CACH); Cree leukoencephalopathy (CLE)
Novel EOLA1 endothelium and lymphocyte associated ASCH domain 1
Novel PDIA6 protein disulfide isomerase family A member 6
  • XBP1(S) activates chaperone genes
  • Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
  • Post-translational protein phosphorylation
Novel SCNN1A sodium channel epithelial 1 subunit alpha
  • Stimuli-sensing channels
  • Sensory perception of salty taste
  • Triamterene
  • Amiloride
  • Bronchiectasis with or without elevated sweat chloride
  • Hyperkalemic distal renal tubular acidosis (RTA type 4), including the following two diseases: Pseudohypoaldosteronism type I (PHA1); Pseudohypoaldosteronism type II (Gordon's syndrome)
Novel SCRN1 secernin 1
Novel SSR1 signal sequence receptor subunit 1
  • SRP-dependent cotranslational protein targeting to membrane
  • XBP1(S) activates chaperone genes
Novel TMED10 transmembrane p24 trafficking protein 10
  • COPII-mediated vesicle transport
  • Cargo concentration in the ER
  • COPI-mediated anterograde transport
  • COPI-dependent Golgi-to-ER retrograde traffic
Novel VASH1 vasohibin 1
  • Carboxyterminal post-translational modifications of tubulin
BARD1 BRCA1 associated RING domain 1
  • 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
  • Defective homologous recombination repair (HRR) due to BRCA1 loss of function
  • Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
  • Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
  • Impaired BRCA2 binding to RAD51
  • Impaired BRCA2 binding to PALB2
BRCA1 BRCA1 DNA repair associated
  • Meiotic synapsis
  • SUMOylation of DNA damage response and repair proteins
  • HDR through Single Strand Annealing (SSA)
  • HDR through Homologous Recombination (HRR)
  • 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
  • TP53 Regulates Transcription of DNA Repair Genes
  • Regulation of TP53 Activity through Phosphorylation
  • G2/M DNA damage checkpoint
  • Neddylation
  • Transcriptional Regulation by E2F6
  • Meiotic recombination
  • Defective DNA double strand break response due to BRCA1 loss of function
  • Defective DNA double strand break response due to BARD1 loss of function
  • Defective homologous recombination repair (HRR) due to BRCA1 loss of function
  • Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
  • Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
  • Impaired BRCA2 binding to RAD51
  • Impaired BRCA2 binding to PALB2
  • KEAP1-NFE2L2 pathway
  • Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
  • Ovarian cancer
  • Breast cancer
DHDDS dehydrodolichyl diphosphate synthase subunit
  • Synthesis of dolichyl-phosphate
  • Defective DHDDS causes RP59
ECT2 epithelial cell transforming 2
  • NRAGE signals death through JNK
  • G alpha (12/13) signalling events
  • RHOA GTPase cycle
  • RHOB GTPase cycle
  • CDC42 GTPase cycle
  • RAC1 GTPase cycle
ERRFI1 ERBB receptor feedback inhibitor 1
LIG4 DNA ligase 4
  • 2-LTR circle formation
  • Nonhomologous End-Joining (NHEJ)
  • DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
PAXIP1 PAX interacting protein 1
  • Activation of anterior HOX genes in hindbrain development during early embryogenesis
  • Nonhomologous End-Joining (NHEJ)
  • Formation of WDR5-containing histone-modifying complexes
  • Epigenetic regulation of gene expression by MLL3 and MLL4 complexes
  • MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
TRIM14 tripartite motif containing 14
  • Interferon gamma signaling
USP4 ubiquitin specific peptidase 4
  • TNFR1-induced proapoptotic signaling
  • Regulation of TNFR1 signaling
  • TNFR1-induced NF-kappa-B signaling pathway
  • Ub-specific processing proteases

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