SMC3 and CYP27B1

		SMC3	CYP27B1
Description		structural maintenance of chromosomes 3	cytochrome P450 family 27 subfamily B member 1
Image			No pdb structure
GO Annotations	Cellular Component	Chromosome, Centromeric Region Chromatin Lateral Element Nucleus Nucleoplasm Chromosome Cytosol Cohesin Complex Nuclear Matrix Mitotic Cohesin Complex Meiotic Cohesin Complex Nuclear Lumen Mitotic Spindle Pole	Cytoplasm Mitochondrion Mitochondrial Outer Membrane Membrane Mitochondrial Membrane
	Molecular Function	Nucleotide Binding Cis-regulatory Region Sequence-specific DNA Binding Chromatin Binding Double-stranded DNA Binding Microtubule Motor Activity Protein Binding ATP Binding ATP Hydrolysis Activity Mediator Complex Binding Protein Heterodimerization Activity Beta-tubulin Binding Dynein Complex Binding	Monooxygenase Activity Calcidiol 1-monooxygenase Activity Iron Ion Binding Oxidoreductase Activity Oxidoreductase Activity, Acting On Paired Donors, With Incorporation Or Reduction Of Molecular Oxygen Heme Binding Metal Ion Binding Secalciferol 1-monooxygenase Activity
	Biological Process	Mitotic Cell Cycle Regulation Of DNA Replication DNA Repair DNA Damage Response Sister Chromatid Cohesion Mitotic Sister Chromatid Cohesion Stem Cell Population Maintenance Establishment Of Mitotic Sister Chromatid Cohesion Establishment Of Meiotic Sister Chromatid Cohesion Chromosome Organization Cell Division Meiotic Cell Cycle Mitotic Spindle Assembly	Alcohol Metabolic Process Lipid Metabolic Process Vitamin Metabolic Process Calcium Ion Transport Negative Regulation Of Cell Population Proliferation Lipid Biosynthetic Process Bone Mineralization Negative Regulation Of Cell Growth Regulation Of Bone Mineralization Response To Lipopolysaccharide Response To Vitamin D Response To Type II Interferon Calcitriol Biosynthetic Process From Calciol Vitamin D Metabolic Process Vitamin D Biosynthetic Process Vitamin D Catabolic Process Response To Estrogen Small Molecule Biosynthetic Process Positive Regulation Of Keratinocyte Differentiation Decidualization Calcium Ion Homeostasis G1 To G0 Transition Positive Regulation Of Vitamin D Receptor Signaling Pathway Cellular Response To Vitamin D
Pathways		Meiotic synapsis Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion Cohesin Loading onto Chromatin Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins Estrogen-dependent gene expression	Vitamin D (calciferol) metabolism Vitamins Defective CYP27B1 causes VDDR1A
Drugs			Alfacalcidol
Diseases		Cornelia de Lange syndrome (CdLS)	Type I diabetes mellitus
GWAS		Acute respiratory distress syndrome in sepsis ( 31982041) Lumbar spine bone mineral density (integral) ( 27476799) Metabolite levels ( 23823483)	Brain morphology (MOSTest) ( 32665545) Multiple sclerosis ( 19525955 21833088)
Interacting Genes		20 interacting genes: APC CEBPA CEP63 CYP27B1 DISC1 ESCO2 ESR1 FEZ1 FEZ2 KIFAP3 MTNR1B MXD1 MXD3 MXD4 MXI1 RPGR SMC1A SMC1B SUMO2 TRAF3IP1	8 interacting genes: ATF2 HOXC10 ITGB7 MARS1 MYL6 SMC3 TMEM50B TUT4
Entrez ID		9126	1594
HPRD ID		05829	02031
Ensembl ID		ENSG00000108055	ENSG00000111012
Uniprot IDs		Q9UQE7	O15528
PDB IDs		6WG3 6WG4 6WG6 6WGE 7W1M 8P0A 8PQ5 8ROH 8ROI 8ROJ 8ROK 8ROL
Enriched GO Terms of Interacting Partners?		Centrosome Ciliary Basal Body Cohesin Complex Meiotic Cohesin Complex Sister Chromatid Cohesion Condensed Nuclear Chromosome Protein Dimerization Activity Negative Regulation Of Metabolic Process Negative Regulation Of Autophagosome Assembly Chromatin Mitotic Sister Chromatid Cohesion Organelle Organization Microtubule-based Process Positive Regulation Of Ubiquitin-dependent Protein Catabolic Process Regulation Of Metabolic Process Positive Regulation Of Catabolic Process Cilium Organization Plasma Membrane Bounded Cell Projection Organization Nucleoplasm RNA Polymerase II Transcription Regulator Complex Positive Regulation Of Proteolysis Involved In Protein Catabolic Process Negative Regulation Of Transcription By RNA Polymerase II RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Ciliary Transition Zone Developmental Process Regulation Of Ubiquitin-dependent Protein Catabolic Process RNA Polymerase I Transcription Regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Calcidiol 1-monooxygenase Activity Secalciferol 1-monooxygenase Activity Photoreceptor Connecting Cilium Transport Along Microtubule Cell Projection Organization Organelle Assembly Negative Regulation Of Macroautophagy Positive Regulation Of Anterograde Axonal Transport Of Mitochondrion Regulation Of Neuroblast Proliferation Kinesin Binding Positive Regulation Of Calcium-dependent Cell-cell Adhesion Ciliary Base Negative Regulation Of Macromolecule Metabolic Process Kinesin Complex Ciliary Tip Intraciliary Transport Regulation Of Autophagosome Assembly Cytoskeleton-dependent Intracellular Transport Regulation Of Microtubule-based Movement Positive Regulation Of Proteolysis DNA Binding Protein Localization To Chromatin	Abducens Nucleus Development Cellular Response To Anisomycin Growth Plate Cartilage Chondrocyte Differentiation Intrinsic Apoptotic Signaling Pathway In Response To Hypoxia Positive Regulation Of Cardiac Muscle Myoblast Proliferation Facial Nucleus Development Histone H2B Acetyltransferase Activity Hypoglossal Nucleus Development H4 Histone Acetyltransferase Complex Positive Regulation Of Transforming Growth Factor Beta2 Production Growth Plate Cartilage Chondrocyte Proliferation Cis-regulatory Region Sequence-specific DNA Binding Cell-matrix Adhesion Involved In Ameboidal Cell Migration Integrin Alpha4-beta7 Complex Methionyl-tRNA Aminoacylation Methionine-tRNA Ligase Activity Establishment Of Meiotic Sister Chromatid Cohesion Stem Cell Population Maintenance Maintenance Of Cell Number RNA Uridylyltransferase Activity Polyuridylation-dependent MRNA Catabolic Process Response To Anisomycin NK T Cell Differentiation Detection Of Cell Density Immune Response In Gut-associated Lymphoid Tissue Transposable Element Silencing By MRNA Destabilization Meiotic Cohesin Complex Mediator Complex Binding Chondrocyte Differentiation Involved In Endochondral Bone Morphogenesis Spinal Cord Motor Neuron Cell Fate Specification Unconventional Myosin Complex Cohesin Complex Establishment Of Mitotic Sister Chromatid Cohesion Mitotic Cohesin Complex Brainstem Development Regulation Of Transforming Growth Factor Beta2 Production Establishment Of Sister Chromatid Cohesion
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