TSC1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Associated Diseases Hide
HR	HR lysine demethylase and nuclear receptor corepressor		Atrichia with papular lesions Localized autosomal recessive hypotrichosis Marie-Unna hereditary hypotrichosis (MUHH)
HSH2D	hematopoietic SH2 domain containing
IGFN1	immunoglobulin like and fibronectin type III domain containing 1
KDM1A	lysine demethylase 1A	HDACs deacetylate histones HDMs demethylate histones Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 Regulation of PTEN gene transcription Estrogen-dependent gene expression NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux Potential therapeutics for SARS Factors involved in megakaryocyte development and platelet production
LATS2	large tumor suppressor kinase 2	Signaling by Hippo
LENG1	leukocyte receptor cluster member 1
LMO2	LIM domain only 2	RUNX1 regulates transcription of genes involved in differentiation of HSCs	Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
MSN	moesin	Recycling pathway of L1 Recycling pathway of L1 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
MYLIP	myosin regulatory light chain interacting protein	VLDLR internalisation and degradation NR1H2 & NR1H3 regulate gene expression to limit cholesterol uptake Antigen processing: Ubiquitination & Proteasome degradation
MYOZ3	myozenin 3
NEFL	neurofilament light	Unblocking of NMDA receptors, glutamate binding and activation Unblocking of NMDA receptors, glutamate binding and activation Ras activation upon Ca2+ influx through NMDA receptor RAF/MAP kinase cascade Assembly and cell surface presentation of NMDA receptors Negative regulation of NMDA receptor-mediated neuronal transmission Long-term potentiation	Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
NF2	neurofibromin 2	Regulation of actin dynamics for phagocytic cup formation RHO GTPases activate PAKs	Malignant pleural mesothelioma Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
PATL1	PAT1 homolog 1, processing body mRNA decay factor	mRNA decay by 5' to 3' exoribonuclease mRNA decay by 5' to 3' exoribonuclease
PATZ1	POZ/BTB and AT hook containing zinc finger 1
PITX1	paired like homeodomain 1		Congenital clubfoot; Congenital talipes equinovarus
POGZ	pogo transposable element derived with ZNF domain
POU6F2	POU class 6 homeobox 2
PPP1R18	protein phosphatase 1 regulatory subunit 18
PPP1R32	protein phosphatase 1 regulatory subunit 32
PRMT6	protein arginine methyltransferase 6	RMTs methylate histone arginines RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

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