Search Results for: SIGMAR1

Novel Interactant Symbol Name
Associated Pathways
Binding Drugs
Associated Diseases
Novel DCAF12 DDB1 and CUL4 associated factor 12
Novel DNAJB5 DnaJ heat shock protein family (Hsp40) member B5
Novel GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • Sialic acid metabolism
  • Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
  • 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)
  • Nonaka distal myopathy (NM); Distal myopathy with rimmed vacuoles (DMRV); Hereditary inclusion body myopathy (hIBM)
  • Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD); Sialuria, Finnish type / Salla disease (SD); Sialuria, French type
Novel NFX1 nuclear transcription factor, X-box binding 1
Novel PHF24 PHD finger protein 24
Novel RECK reversion inducing cysteine rich protein with kazal motifs
  • Post-translational modification: synthesis of GPI-anchored proteins
Novel RUSC2 RUN and SH3 domain containing 2
Novel SPAG8 sperm associated antigen 8
Novel SPINK4 serine peptidase inhibitor Kazal type 4
Novel VCP valosin containing protein
  • Translesion Synthesis by POLH
  • HSF1 activation
  • ABC-family proteins mediated transport
  • N-glycan trimming in the ER and Calnexin/Calreticulin cycle
  • Hedgehog ligand biogenesis
  • Hh mutants are degraded by ERAD
  • Defective CFTR causes cystic fibrosis
  • Josephin domain DUBs
  • Ovarian tumor domain proteases
  • Neutrophil degranulation
  • E3 ubiquitin ligases ubiquitinate target proteins
  • Protein methylation
  • Aggrephagy
  • Attachment and Entry
  • Attachment and Entry
  • Phosphoaminophosphonic Acid-Adenylate Ester
  • Phenethyl Isothiocyanate
  • Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
ANK2 ankyrin 2
  • Interaction between L1 and Ankyrins
  • Interaction between L1 and Ankyrins
  • COPI-mediated anterograde transport
  • Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
ITPR3 inositol 1,4,5-trisphosphate receptor type 3
  • PLC beta mediated events
  • Effects of PIP2 hydrolysis
  • Elevation of cytosolic Ca2+ levels
  • DAG and IP3 signaling
  • Role of phospholipids in phagocytosis
  • FCERI mediated Ca+2 mobilization
  • Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
  • Ca2+ pathway
  • Regulation of insulin secretion
  • VEGFR2 mediated cell proliferation
  • Ion homeostasis
  • Ion homeostasis
  • CLEC7A (Dectin-1) induces NFAT activation
  • FCGR3A-mediated IL10 synthesis
  • Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
  • Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
  • Caffeine
  • Type I diabetes mellitus
PDZD11 PDZ domain containing 11
  • Biotin transport and metabolism
  • Vitamin B5 (pantothenate) metabolism
  • Transport of vitamins, nucleosides, and related molecules
  • Ion influx/efflux at host-pathogen interface
  • Ion transport by P-type ATPases

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