SIGMAR1 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
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, NK and IBM2		Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD); Sialuria, Finnish type / Salla disease (SD); Sialuria, French type Nonaka distal myopathy (NM); Distal myopathy with rimmed vacuoles (DMRV); Hereditary inclusion body myopathy (hIBM) 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)
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 Neddylation RHOH GTPase cycle Aggrephagy Attachment and Entry Attachment and Entry KEAP1-NFE2L2 pathway AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274) Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide	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)
	GHSR	growth hormone secretagogue receptor	Peptide ligand-binding receptors G alpha (q) signalling events	Ulimorelin Macimorelin Echinacoside
	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 Sensory perception of sweet, bitter, and umami (glutamate) taste 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
	SRI	sorcin	Stimuli-sensing channels Reduction of cytosolic Ca++ levels Sodium/Calcium exchangers Ion homeostasis Ion transport by P-type ATPases	Calcium citrate Calcium Phosphate Calcium phosphate dihydrate

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