B4GALT7 and PBRM1

		B4GALT7	PBRM1
Description		beta-1,4-galactosyltransferase 7	polybromo 1
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GO Annotations	Cellular Component	Golgi Membrane Golgi Apparatus Membrane Golgi Cisterna Membrane	Nuclear Chromosome Kinetochore Chromatin Nucleus Nucleoplasm Chromosome Nuclear Matrix SWI/SNF Complex RSC-type Complex
	Molecular Function	Beta-N-acetylglucosaminylglycopeptide Beta-1,4-galactosyltransferase Activity Protein Binding Galactosyltransferase Activity Transferase Activity Glycosyltransferase Activity Manganese Ion Binding Xylosylprotein 4-beta-galactosyltransferase Activity Metal Ion Binding	DNA Binding Chromatin Binding Protein Binding
	Biological Process	Carbohydrate Metabolic Process Glycosaminoglycan Biosynthetic Process Proteoglycan Metabolic Process Protein Glycosylation Protein N-linked Glycosylation Proteoglycan Biosynthetic Process Glycosaminoglycan Metabolic Process Protein Modification Process Negative Regulation Of Fibroblast Proliferation Glycosylation Supramolecular Fiber Organization	Mitotic Cell Cycle Chromatin Organization Chromatin Remodeling Regulation Of Transcription By RNA Polymerase II Transcription Elongation By RNA Polymerase II Negative Regulation Of Cell Population Proliferation Regulation Of Mitotic Metaphase/anaphase Transition Positive Regulation Of T Cell Differentiation Positive Regulation Of Cell Differentiation Positive Regulation Of Myoblast Differentiation Regulation Of G0 To G1 Transition Regulation Of G1/S Transition Of Mitotic Cell Cycle Positive Regulation Of Double-strand Break Repair Regulation Of Nucleotide-excision Repair
Pathways		Glycosaminoglycan-protein linkage region biosynthesis Defective B4GALT7 causes EDS, progeroid type	RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Formation of the polybromo-BAF (pBAF) complex
Drugs
Diseases		Ehlers-Danlos syndrome, progeroid form Ehlers-Danlos syndrome (EDS), including: EDS classical type (EDS1/2); EDS hypermobility type (EDS3); EDS vascular type (EDS4); EDS kyphoscoliosis type (EDS6); EDS arthrochalasia type (EDS7A/7B); EDS dermatospraxis type (EDS7C); EDS autosomal recessive cardiac valvular form (EDSCV); EDS musculocontractural type (EDSMC); EDS progeroid form (EDSP); Tenascin-X deficiency (TNXD); Brittle cornea syndrome (EDS6B); EDS-like spondylocheiro dysplasia (SCD-EDS)
GWAS		Blood protein levels ( 30072576) Methadone dose in opioid dependence ( 28115739) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI (age <50) ( 26426971) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971)	A body shape index ( 34021172) Autism spectrum disorder or schizophrenia ( 28540026) Bipolar disorder ( 21926972 31043756) Bipolar disorder with mood-incongruent psychosis ( 23092984) Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) General cognitive ability ( 29844566) Hemoglobin levels ( 32327693) Insomnia symptoms (never/rarely vs. sometimes/usually) ( 30804566) Intelligence (MTAG) ( 29326435) Liver enzyme levels (gamma-glutamyl transferase) ( 33972514) Lymphocyte count ( 32888494) Major mood disorders ( 20081856) Red cell distribution width ( 32888494) Schizophrenia ( 30285260 28991256 23974872 25056061 29483656) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500) Waist circumference adjusted for BMI in active individuals ( 28448500) Waist circumference adjusted for body mass index ( 28448500 34021172) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 34021172) Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour) ( 28443625) Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) ( 28448500) Waist-to-hip ratio adjusted for BMI in active individuals ( 28448500) Waist-to-hip ratio adjusted for body mass index ( 25673412 28448500)
Interacting Genes		7 interacting genes: CYSRT1 KRT31 KRTAP10-3 KRTAP10-7 RABGGTB TMEM14B UBC	13 interacting genes: APP H2AC20 H2BC21 H3C1 H4C1 PTEN PTS SMARCA4 SUMO2 UBE3A USP7 ZDHHC17 ZNF512B
Entrez ID		11285	55193
HPRD ID		05060	07302
Ensembl ID		ENSG00000027847	ENSG00000163939
Uniprot IDs		B3KMT1 Q9UBV7	A0A9L9PXL4 Q86U86
PDB IDs		4IRP 4IRQ	2KTB 3G0J 3HMF 3IU5 3IU6 3K2J 3LJW 3MB4 3TLP 4Q0N 4Q0O 4Y03 5E7D 5FH6 5FH7 5FH8 5HRV 5HRW 5HRX 5II1 5II2 5IID 6OXB 6ZN6 6ZNV 6ZS3 6ZS4 7VDV 7Y8R 8FTA
Enriched GO Terms of Interacting Partners?		Keratin Filament Intermediate Filament	Regulation Of Ubiquitin-dependent Protein Catabolic Process Structural Constituent Of Chromatin Regulation Of Proteolysis Chromatin Remodeling Nucleosome Epigenetic Regulation Of Gene Expression Nucleosome Organization Axonogenesis Protein Heterodimerization Activity Chromatin Organization Protein-DNA Complex Assembly Regulation Of MiRNA Transcription Positive Regulation Of Proteolysis Regulation Of MiRNA Metabolic Process System Development Neuron Projection Morphogenesis PML Body Positive Regulation Of Ubiquitin-dependent Protein Catabolic Process Nucleosome Assembly Cell Projection Morphogenesis Negative Regulation Of MiRNA Transcription Postsynaptic Cytosol Positive Regulation Of Catabolic Process Positive Regulation Of Excitatory Postsynaptic Potential Positive Regulation Of Proteolysis Involved In Protein Catabolic Process Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Reproductive Behavior Amyloid-beta Complex Growth Cone Lamellipodium Central Nervous System Development Regulation Of Response To Calcium Ion Amylin Binding Positive Regulation Of Toll Signaling Pathway Hormone Biosynthetic Process Negative Regulation Of Synaptic Vesicle Clustering 6-pyruvoyltetrahydropterin Synthase Activity Sperm Entry Positive Regulation Of Golgi Lumen Acidification Xylosylprotein 4-beta-galactosyltransferase Activity Perforant Pathway To Dendrate Granule Cell Synapse DNA Binding Neuron Projection Organization Regulation Of Protein Catabolic Process Negative Regulation Of Gene Expression, Epigenetic
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