HMGCL and SMARCA4

		HMGCL	SMARCA4
Description		3-hydroxy-3-methylglutaryl-CoA lyase	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
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GO Annotations	Cellular Component	Mitochondrion Mitochondrial Matrix Peroxisome Peroxisomal Matrix Cytosol Protein-containing Complex	Kinetochore Chromatin Fibrillar Center Extracellular Space Nucleus Nucleoplasm Nucleolus Membrane Nuclear Matrix SWI/SNF Complex RSC-type Complex Protein-containing Complex NpBAF Complex NBAF Complex BBAF Complex GBAF Complex
	Molecular Function	Magnesium Ion Binding Catalytic Activity Hydroxymethylglutaryl-CoA Lyase Activity Structural Molecule Activity Lyase Activity Oxo-acid-lyase Activity Manganese Ion Binding Metal Ion Binding	RNA Polymerase I Core Promoter Sequence-specific DNA Binding Transcription Coregulator Binding P53 Binding DNA Binding Chromatin Binding Transcription Coactivator Activity Transcription Corepressor Activity RNA Binding Helicase Activity Protein Binding ATP Binding ATP-dependent Activity, Acting On DNA Hydrolase Activity ATP Hydrolysis Activity Tat Protein Binding Nucleosomal DNA Binding Histone Binding Identical Protein Binding Nuclear Androgen Receptor Binding DNA Polymerase Binding ATP-dependent Chromatin Remodeler Activity Nucleosome Array Spacer Activity
	Biological Process	L-leucine Catabolic Process Lipid Metabolic Process Mitochondrion Organization Ketone Body Biosynthetic Process	Negative Regulation Of Transcription By RNA Polymerase II RNA Polymerase I Preinitiation Complex Assembly Neural Retina Development Chromatin Organization Nucleosome Disassembly Chromatin Remodeling Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Nervous System Development Positive Regulation Of Cell Population Proliferation Regulation Of Mitotic Metaphase/anaphase Transition Positive Regulation Of Wnt Signaling Pathway Negative Regulation Of Cell Growth Heterochromatin Formation Host-mediated Activation Of Viral Transcription Positive Regulation Of T Cell Differentiation Negative Regulation Of Cell Differentiation Positive Regulation Of Cell Differentiation Positive Regulation Of Myoblast Differentiation Transcription Initiation-coupled Chromatin Remodeling Negative Regulation Of DNA-templated Transcription Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Androgen Receptor Signaling Pathway Regulation Of G0 To G1 Transition Positive Regulation Of Cold-induced Thermogenesis Positive Regulation Of Signal Transduction By P53 Class Mediator Positive Regulation Of Transcription Of Nucleolar Large RRNA By RNA Polymerase I Positive Regulation Of Stem Cell Population Maintenance Positive Regulation Of Glucose Mediated Signaling Pathway Positive Regulation Of MiRNA Transcription Regulation Of G1/S Transition Of Mitotic Cell Cycle Positive Regulation Of Double-strand Break Repair Regulation Of Nucleotide-excision Repair
Pathways		Synthesis of Ketone Bodies Peroxisomal protein import Peroxisomal protein import	Interleukin-7 signaling Formation of the beta-catenin:TCF transactivating complex RMTs methylate histone arginines Chromatin modifying enzymes RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known EGR2 and SOX10-mediated initiation of Schwann cell myelination EGR2 and SOX10-mediated initiation of Schwann cell myelination Negative Regulation of CDH1 Gene Transcription Regulation of MITF-M-dependent genes involved in pigmentation Regulation of MITF-M-dependent genes involved in pigmentation Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) Formation of the canonical BAF (cBAF) complex Formation of the polybromo-BAF (pBAF) complex Formation of the embryonic stem cell BAF (esBAF) complex Formation of the non-canonical BAF (ncBAF) complex Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
Drugs		3-hydroxyglutaric acid
Diseases		3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
GWAS		High light scatter reticulocyte count ( 27863252) Immature fraction of reticulocytes ( 27863252) Red blood cell count ( 32888494) Reticulocyte fraction of red cells ( 27863252)	Adult body size ( 32376654) Apolipoprotein B levels ( 32203549) Coronary artery disease ( 24262325 32469254 33020668) Coronary artery disease or ischemic stroke ( 24262325) Coronary artery disease or large artery stroke ( 24262325) Disorders of lipid metabolism ( 30166351) HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) Inflammatory skin disease ( 25574825) LDL cholesterol ( 21347282) LDL cholesterol levels ( 30698716 32203549) LDL cholesterol levels in current drinkers ( 30698716) LDL cholesterol levels in HIV infection ( 33109212) LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Low density lipoprotein cholesterol levels ( 33339817) Medication use (HMG CoA reductase inhibitors) ( 31015401) Multiple sclerosis ( 31604244) Total cholesterol levels ( 33339817)
Interacting Genes		12 interacting genes: ADAMTS10 ARL6IP1 DNAJA1 GTF2B HES1 HSD17B10 IKBKB MS4A7 NEDD4 PEX5 RNF126 UBC	82 interacting genes: ACTB ACTL6A AHR AR ARID1A ARID1B ARID2 ATM BRCA1 BRWD1 CARM1 CBX5 CCNE1 CDK19 CDK8 CDKN2A CDX2 CEBPA CEBPB CHD4 CHFR CHMP5 CIITA CREB1 CTNNB1 E2F6 E4F1 ESR1 ETS2 EZH2 FANCA GATA1 GMNN H2AX H3-3A H3C14 H4C6 HSF1 HSF4 HSPB1 IKZF1 KLF1 MDM2 MED17 MED6 MPHOSPH6 MRTFA MYC MYOCD NR3C1 NR4A2 PABPN1 PALS2 PAX6 PBRM1 PHB1 PTEN RAP1A RASSF1 RB1 RBL1 RBL2 RELB RFXAP SIN3A SIN3B SMARCB1 SMARCC1 SMARCE1 SOX4 SS18 SS18L1 STAT2 STAT3 STK11 SUMO2 TAF15 TMF1 TP53 TTC3 USP7 ZMYND11
Entrez ID		3155	6597
HPRD ID		02003	04459
Ensembl ID		ENSG00000117305	ENSG00000127616
Uniprot IDs		P35914	A0A2R8Y7S2 A7E2E1 B3KNW7 P51532 Q9HBD4
PDB IDs		2CW6 3MP3 3MP4 3MP5	2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2 6LTH 6LTJ 6SY2 6ZS2 7TAB 7TD9 7VDT 7VDV 7VRB 7Y8R 8EB1 8G1Q 8QJR
Enriched GO Terms of Interacting Partners?		Protein Monoubiquitination Tat Protein Binding Positive Regulation Of DNA Binding Cerebral Cortex Neuron Differentiation Protein Modification By Small Protein Conjugation Protein Ubiquitination Ubiquitin-dependent Protein Catabolic Process Via The Multivesicular Body Sorting Pathway Protein Modification Process Transcriptional Start Site Selection At RNA Polymerase II Promoter Regulation Of DNA Binding Positive Regulation Of Binding Isoursodeoxycholate 7-beta-dehydrogenase (NAD+) Activity Chenodeoxycholate 7-alpha-dehydrogenase (NAD+) Activity 3-hydroxy-2-methylbutyryl-CoA Dehydrogenase Activity Cholate 7-alpha-dehydrogenase (NAD+) Activity Ursodeoxycholate 7-beta-dehydrogenase (NAD+) Activity Negative Regulation Of Pancreatic A Cell Differentiation N-box Binding Negative Regulation Of Cell Fate Determination Forebrain Neuron Differentiation Positive Regulation Of Mitotic Cell Cycle, Embryonic Trochlear Nerve Development Post-translational Protein Modification Protein Targeting Receptor Metabolic Process Formation Of Structure Involved In A Symbiotic Process Fatty Acid Beta-oxidation Transcription Preinitiation Complex Assembly Positive Regulation Of Core Promoter Binding Germinal Vesicle Protein-containing Complex Organization Protein-containing Complex Assembly RNA Polymerase II Core Complex Assembly Protein Metabolic Process Lipid Oxidation 17-beta-hydroxysteroid Dehydrogenase (NAD+) Activity Brexanolone Metabolic Process Fatty Acid Catabolic Process Mitochondrial Ribonuclease P Complex Fatty Acid Oxidation Mitochondrial TRNA 5'-end Processing Mitochondrial TRNA 3'-end Processing Mitochondrial TRNA Methylation Mitochondrial RNA 5'-end Processing Protein Tetramerization Protein-folding Chaperone Binding Cardiac Neural Crest Cell Development Involved In Outflow Tract Morphogenesis Blood Vessel Morphogenesis Regulation Of Timing Of Neuron Differentiation Negative Regulation Of Inner Ear Auditory Receptor Cell Differentiation	Nucleoplasm Regulation Of Transcription By RNA Polymerase II Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Chromatin Regulation Of RNA Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Positive Regulation Of RNA Biosynthetic Process Nucleus Positive Regulation Of DNA-templated Transcription Regulation Of Primary Metabolic Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Macromolecule Metabolic Process Positive Regulation Of RNA Metabolic Process Positive Regulation Of Macromolecule Metabolic Process Regulation Of Gene Expression Chromatin Organization Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Negative Regulation Of RNA Metabolic Process Positive Regulation Of Metabolic Process Regulation Of Metabolic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process DNA Binding Positive Regulation Of Transcription By RNA Polymerase II Protein-containing Complex Regulation Of Cell Cycle Regulation Of Cell Cycle G1/S Phase Transition Positive Regulation Of Macromolecule Biosynthetic Process Chromatin Remodeling Regulation Of G1/S Transition Of Mitotic Cell Cycle Negative Regulation Of Biosynthetic Process Regulation Of Mitotic Cell Cycle Negative Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of Metabolic Process Positive Regulation Of Biosynthetic Process Negative Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Macromolecule Metabolic Process SWI/SNF Complex Regulation Of Mitotic Cell Cycle Phase Transition Regulation Of Cell Cycle Phase Transition RNA Polymerase II-specific DNA-binding Transcription Factor Binding Regulation Of Cell Cycle Process Regulation Of Hemopoiesis Positive Regulation Of Cell Differentiation Regulation Of Cell Differentiation NpBAF Complex Regulation Of Cell Development Positive Regulation Of Developmental Process
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