ATXN1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
IST1	IST1 factor associated with ESCRT-III	Neutrophil degranulation Sealing of the nuclear envelope (NE) by ESCRT-III
ITGB4	integrin subunit beta 4	Assembly of collagen fibrils and other multimeric structures Laminin interactions Syndecan interactions Type I hemidesmosome assembly Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin	R1295	Epidermolysis bullosa, junctional, including: Epidermolysis bullosa, junctional, Herlitz type (JEB-H); Epidermolysis bullosa, junctional, non-Herlitz type (JEB-nH); Epidermolysis bullosa, junctional, with pyloric atresia (JEB-PA)
KAT5	lysine acetyltransferase 5	Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex DNA Damage/Telomere Stress Induced Senescence HATs acetylate histones HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks 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 Estrogen-dependent gene expression 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 Cardiogenesis	Coenzyme A S-Acetyl-Cysteine
KAT6A	lysine acetyltransferase 6A	HATs acetylate histones Regulation of TP53 Activity through Acetylation
KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	Voltage gated Potassium channels Neutrophil degranulation	Enflurane Promethazine Miconazole
KCTD15	potassium channel tetramerization domain containing 15	Negative regulation of activity of TFAP2 (AP-2) family transcription factors
KIAA1549L	KIAA1549 like
KIF22	kinesin family member 22	MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic Kinesins
KLF11	KLF transcription factor 11			Maturity onset diabetes of the young (MODY)
KLHL12	kelch like family member 12	Degradation of DVL
KLHL8	kelch like family member 8
KMT2B	lysine methyltransferase 2B	PKMTs methylate histone lysines RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function Formation of WDR5-containing histone-modifying complexes Formation of WDR5-containing histone-modifying complexes
KRTAP12-4	keratin associated protein 12-4	Keratinization
KRTAP13-3	keratin associated protein 13-3	Keratinization
LASP1	LIM and SH3 protein 1
LDB1	LIM domain binding 1	RUNX1 regulates transcription of genes involved in differentiation of HSCs Regulation of expression of SLITs and ROBOs Cardiogenesis Expression and translocation of olfactory receptors
LITAF	lipopolysaccharide induced TNF factor			Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
LOXL1	lysyl oxidase like 1	Elastic fibre formation Crosslinking of collagen fibrils
LPAR2	lysophosphatidic acid receptor 2	G alpha (q) signalling events G alpha (i) signalling events Lysosphingolipid and LPA receptors
LRSAM1	leucine rich repeat and sterile alpha motif containing 1	Antigen processing: Ubiquitination & Proteasome degradation

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