Search Results for: NPHP3

Novel Interactant Symbol Name
Associated Pathways
Binding Drugs
Associated Diseases
Novel ANAPC13 anaphase promoting complex subunit 13
  • Antigen processing: Ubiquitination & Proteasome degradation
Novel ASTE1 asteroid homolog 1
Novel CCDC50 coiled-coil domain containing 50
Novel CDV3 CDV3 homolog
Novel COL7A1 collagen type VII alpha 1 chain
  • Collagen degradation
  • Collagen degradation
  • Extracellular matrix organization
  • Collagen biosynthesis and modifying enzymes
  • Assembly of collagen fibrils and other multimeric structures
  • COPII-mediated vesicle transport
  • Integrin cell surface interactions
  • Anchoring fibril formation
  • Laminin interactions
  • Laminin interactions
  • Cargo concentration in the ER
  • Collagen chain trimerization
  • Transient bullous dermolysis of the newborn
  • Epidermolysis bullosa, dysprophic, including: ; Epidermolysis bullosa dystrophica, AD; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; Epidermolysis bullosa, pretibial
Novel DDX3Y DEAD-box helicase 3 Y-linked
Novel DNAJC13 DnaJ heat shock protein family (Hsp40) member C13
  • Neutrophil degranulation
Novel DPP7 dipeptidyl peptidase 7
  • Neutrophil degranulation
Novel EPC1 enhancer of polycomb homolog 1
  • HATs acetylate histones
  • Transcriptional Regulation by E2F6
Novel NAA50 N-alpha-acetyltransferase 50, NatE catalytic subunit
Novel PARP14 poly(ADP-ribose) polymerase family member 14
  • Nicotinamide salvaging
  • Maturation of nucleoprotein
  • Maturation of nucleoprotein
Novel PIK3R4 phosphoinositide-3-kinase regulatory subunit 4
  • PI3K Cascade
  • Macroautophagy
  • Synthesis of PIPs at the Golgi membrane
  • Synthesis of PIPs at the early endosome membrane
  • Synthesis of PIPs at the late endosome membrane
  • Toll Like Receptor 9 (TLR9) Cascade
  • RHO GTPases Activate NADPH Oxidases
  • Translation of Replicase and Assembly of the Replication Transcription Complex
  • Translation of Replicase and Assembly of the Replication Transcription Complex
Novel PPP2R3A protein phosphatase 2 regulatory subunit B''alpha
Novel RAB6B RAB6B, member RAS oncogene family
  • COPI-independent Golgi-to-ER retrograde traffic
  • Retrograde transport at the Trans-Golgi-Network
  • TBC/RABGAPs
  • RAB geranylgeranylation
  • RAB GEFs exchange GTP for GDP on RABs
Novel TOPBP1 DNA topoisomerase II binding protein 1
  • HDR through Single Strand Annealing (SSA)
  • 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
ATXN1 ataxin 1
  • Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
DYSF dysferlin
  • Smooth Muscle Contraction
  • Smooth Muscle Contraction
  • Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
  • Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Distal myopathy with anterior tibial onset (DMAT)
  • Limb-girdle muscular dystrophy (LGMD)
NPHP1 nephrocystin 1
  • Anchoring of the basal body to the plasma membrane
  • Joubert syndrome
  • Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2)
  • Senior-Loken syndrome

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