TUBA1C and KMT2D

		TUBA1C	KMT2D
Description		tubulin alpha 1c	lysine methyltransferase 2D
Image		No pdb structure
GO Annotations	Cellular Component	Nucleus Cytoplasm Cytoskeleton Microtubule Cytoplasmic Microtubule Cilium Microtubule Cytoskeleton Vesicle	Nucleus Nucleoplasm Histone Methyltransferase Complex MLL3/4 Complex
	Molecular Function	Nucleotide Binding Structural Molecule Activity Structural Constituent Of Cytoskeleton Protein Binding GTP Binding Hydrolase Activity Metal Ion Binding	Transcription Cis-regulatory Region Binding DNA Binding Transcription Coactivator Activity Protein Binding Methyltransferase Activity Zinc Ion Binding Transferase Activity Histone H3K4 Methyltransferase Activity Metal Ion Binding Histone H3K4 Monomethyltransferase Activity Histone H3K4 Trimethyltransferase Activity
	Biological Process	Microtubule Cytoskeleton Organization Mitotic Cell Cycle Microtubule-based Process Cytoskeleton-dependent Intracellular Transport Cell Division	Oocyte Growth Chromatin Organization Regulation Of DNA-templated Transcription Positive Regulation Of Cell Population Proliferation Heterochromatin Formation Methylation Positive Regulation Of Intracellular Estrogen Receptor Signaling Pathway Response To Estrogen Positive Regulation Of Transcription By RNA Polymerase II Oogenesis Beta-catenin-TCF Complex Assembly
Pathways		Translocation of SLC2A4 (GLUT4) to the plasma membrane Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane Gap junction assembly MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand Recruitment of NuMA to mitotic centrosomes Prefoldin mediated transfer of substrate to CCT/TriC Formation of tubulin folding intermediates by CCT/TriC Post-chaperonin tubulin folding pathway Recycling pathway of L1 Recycling pathway of L1 Hedgehog 'off' state Cargo trafficking to the periciliary membrane Intraflagellar transport RHO GTPases activate IQGAPs RHO GTPases Activate Formins COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase The role of GTSE1 in G2/M progression after G2 checkpoint Carboxyterminal post-translational modifications of tubulin Carboxyterminal post-translational modifications of tubulin HCMV Early Events Assembly and cell surface presentation of NMDA receptors Activation of AMPK downstream of NMDARs Aggrephagy Aggrephagy EML4 and NUDC in mitotic spindle formation Sealing of the nuclear envelope (NE) by ESCRT-III Kinesins PKR-mediated signaling	Formation of the beta-catenin:TCF transactivating complex PKMTs methylate histone lysines Deactivation of the beta-catenin transactivating complex Activation of anterior HOX genes in hindbrain development during early embryogenesis RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function Formation of WDR5-containing histone-modifying complexes Epigenetic regulation of gene expression by MLL3 and MLL4 complexes MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Loss of Function of KMT2D in MLL4 Complex Formation in Kabuki Syndrome
Drugs		Epothilone D Patupilone CYT997 2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE
Diseases			Kabuki syndrome
GWAS		Brain morphology (MOSTest) ( 32665545) Cancer (pleiotropy) ( 27197191) Mean corpuscular hemoglobin ( 32888494) Mean platelet volume ( 32888494) Platelet count ( 32888494) Platelet distribution width ( 27863252 32888494)	Chronotype ( 30696823) General cognitive ability ( 29844566) HDL cholesterol levels in HIV infection ( 33109212) Heel bone mineral density ( 30598549) Intelligence (MTAG) ( 29326435)
Interacting Genes		10 interacting genes: CDKN2A CRK ESR1 LINC00624 LINC00632 OGT SHANK3 SUMO2 SUMO4 VIM	16 interacting genes: AKT1 ASH2L CREBBP CTNNB1 ESR1 H2AC4 H2BC3 H3C1 H3C14 H4C1 MEN1 POLR2A SMAD1 SMAD9 UBC USP7
Entrez ID		84790	8085
HPRD ID		06747	03664
Ensembl ID		ENSG00000167553	ENSG00000167548
Uniprot IDs		B7Z1K5 F5H5D3 Q9BQE3	O14686 Q59FG6 Q6PIA1
PDB IDs			3UVK 4ERQ 4Z4P 6O7G 8U2Y 9ATN
Enriched GO Terms of Interacting Partners?		Transmembrane Receptor Protein Serine/threonine Kinase Activity Protein Sumoylation Scaffold Protein Binding Postsynaptic Specialization Assembly Protein-containing Complex Assembly SUMO Transferase Activity Mammary Gland Epithelial Cell Proliferation Protein Tag Activity Cellular Component Assembly Protein-containing Complex Organization Postsynaptic Specialization Organization Regulation Of Generation Of Precursor Metabolites And Energy Ubiquitin-like Protein Ligase Binding Regulation Of Rac Protein Signal Transduction Regulation Of Smooth Muscle Cell Apoptotic Process Protein Modification Process Anti-Mullerian Hormone Receptor Activity Regulation Of Ubiquitin-dependent Protein Catabolic Process Protein-containing Complex Ligase Inhibitor Activity L-allo-threonine Aldolase Activity Beta-catenin-TCF Complex Assembly Protein N-acetylglucosaminyltransferase Complex Negative Regulation Of Non-canonical Inflammasome Complex Assembly	Chromatin Remodeling Chromatin Organization Nucleus Structural Constituent Of Chromatin Nucleoplasm Nucleosome Protein-containing Complex I-SMAD Binding Protein-DNA Complex Assembly DNA Binding Chromosome Transcription Regulator Complex Stem Cell Differentiation Nucleosome Assembly Chromatin Binding Epigenetic Regulation Of Gene Expression Osteoblast Differentiation Nucleosome Organization Regulation Of Gene Expression Regulation Of Macromolecule Biosynthetic Process Protein Localization To Chromatin Protein Heterodimerization Activity SMAD Protein Complex Nitric-oxide Synthase Regulator Activity Heteromeric SMAD Protein Complex MLL1/2 Complex Cell Fate Commitment Involved In Formation Of Primary Germ Layer Regulation Of Macromolecule Metabolic Process Negative Regulation Of Oxidative Stress-induced Neuron Intrinsic Apoptotic Signaling Pathway Regulation Of Cell Population Proliferation Protein Deubiquitination Post-translational Protein Modification Intracellular Signaling Cassette Kinase Binding Positive Regulation Of Transcription By RNA Polymerase II Protein-containing Complex Assembly CENP-A Containing Nucleosome Protein Localization To CENP-A Containing Chromatin Cellular Response To Growth Factor Stimulus Hindbrain Development Protein Localization To Chromosome Gene Expression Regulation Of Oxidative Stress-induced Neuron Intrinsic Apoptotic Signaling Pathway Transcription By RNA Polymerase II Intracellular Signal Transduction Regulation Of Metabolic Process Protein Modification By Small Protein Removal Ubiquitin Protein Ligase Binding Response To Growth Factor Cellular Component Assembly
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