BBS1 and POLR2G

		BBS1	POLR2G
Description		Bardet-Biedl syndrome 1	RNA polymerase II subunit G
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GO Annotations	Cellular Component	Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cilium Axoneme Membrane Motile Cilium Centriolar Satellite BBSome Cell Projection Ciliary Membrane	DNA-directed RNA Polymerase Complex P-body Nucleus Nucleoplasm RNA Polymerase II, Core Complex
	Molecular Function	Signaling Receptor Binding Patched Binding Smoothened Binding Protein Binding Phosphoprotein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	Nucleic Acid Binding Single-stranded DNA Binding RNA Binding Single-stranded RNA Binding Protein Binding Translation Initiation Factor Binding
	Biological Process	Microtubule Cytoskeleton Organization Neuron Migration Retina Homeostasis Lipid Metabolic Process Visual Perception Sensory Perception Of Smell Intracellular Protein Localization Photoreceptor Cell Morphogenesis Fertilization Protein Transport Dendrite Development Ventricular System Development Striatum Development Hippocampus Development Cerebral Cortex Development Cell Projection Organization Adult Behavior Response To Endoplasmic Reticulum Stress Olfactory Behavior Hormone Metabolic Process Golgi To Plasma Membrane Protein Transport Fat Cell Differentiation Photoreceptor Cell Maintenance Brain Morphogenesis Cartilage Development Retina Development In Camera-type Eye Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Neural Precursor Cell Proliferation Protein Localization To Cilium Non-motile Cilium Assembly	Nuclear-transcribed MRNA Catabolic Process DNA-templated Transcription DNA-templated Transcription Initiation Transcription By RNA Polymerase II Transcription Initiation At RNA Polymerase II Promoter Positive Regulation Of Translational Initiation Positive Regulation Of Nuclear-transcribed MRNA Poly(A) Tail Shortening
Pathways		BBSome-mediated cargo-targeting to cilium	Formation of RNA Pol II elongation complex Formation of the Early Elongation Complex Formation of HIV elongation complex in the absence of HIV Tat Formation of the HIV-1 Early Elongation Complex RNA Pol II CTD phosphorylation and interaction with CE during HIV infection HIV Transcription Initiation RNA Polymerase II HIV Promoter Escape Transcription of the HIV genome Formation of HIV-1 elongation complex containing HIV-1 Tat Formation of HIV-1 elongation complex containing HIV-1 Tat Pausing and recovery of Tat-mediated HIV elongation Abortive elongation of HIV-1 transcript in the absence of Tat Tat-mediated HIV elongation arrest and recovery Tat-mediated elongation of the HIV-1 transcript HIV elongation arrest and recovery Pausing and recovery of HIV elongation Viral Messenger RNA Synthesis MicroRNA (miRNA) biogenesis Transcriptional regulation by small RNAs PIWI-interacting RNA (piRNA) biogenesis Activation of anterior HOX genes in hindbrain development during early embryogenesis RNA Polymerase II Pre-transcription Events Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER TP53 Regulates Transcription of DNA Repair Genes FGFR2 alternative splicing RNA polymerase II transcribes snRNA genes RNA polymerase II transcribes snRNA genes mRNA Capping mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway Processing of Capped Intron-Containing Pre-mRNA RNA Polymerase II Promoter Escape RNA Polymerase II Transcription Pre-Initiation And Promoter Opening RNA Polymerase II Transcription Initiation RNA Polymerase II Transcription Elongation RNA Polymerase II Transcription Initiation And Promoter Clearance RNA Pol II CTD phosphorylation and interaction with CE Signaling by FGFR2 IIIa TM Estrogen-dependent gene expression Inhibition of DNA recombination at telomere
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Bipolar disorder ( 21926972) Height ( 28552196)	Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971)
Interacting Genes		13 interacting genes: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7	45 interacting genes: ATF7IP BCL2L15 C22orf15 CIB3 CNTNAP2 DDX54 DES DUSP29 EIF3D EIF4A3 EWSR1 FNDC4 FOSL2 GPKOW HOXC5 KIF5B LMO2 MAPK1 MCM3AP MCPH1 MYOD1 NOTCH2NLA NTRK2 OSGIN1 PARVG POLR1C POLR2A POLR2C POLR2D POLR2E POLR2F POLR2H PRKRA PSMB8 RPAP1 TAF15 TNNC1 TRAPPC2L TRIM14 TRIM68 TSEN15 UPRT VHL WHR1 ZNF410
Entrez ID		582	5436
HPRD ID		01950	15995
Ensembl ID		ENSG00000174483	ENSG00000168002
Uniprot IDs		Q8NFJ9	P62487
PDB IDs		6XT9	2C35 5IY6 5IY7 5IY8 5IY9 5IYA 5IYB 5IYC 5IYD 6DRD 6O9L 6XRE 7LBM 9EHZ 9EI1 9EI3 9EI4
Enriched GO Terms of Interacting Partners?		Regulation Of Mitochondrial Membrane Potential Chemical Homeostasis Homeostatic Process Cellular Homeostasis Regulation Of Programmed Cell Death Regulation Of Aerobic Respiration Cytoplasm Positive Regulation Of Glucose Catabolic Process To Lactate Via Pyruvate Regulation Of Cellular Respiration Cytosol Epithelial Cell Proliferation Extrinsic Apoptotic Signaling Pathway Positive Regulation Of Intrinsic Apoptotic Signaling Pathway In Response To Osmotic Stress Regulation Of Release Of Cytochrome C From Mitochondria Negative Regulation Of Programmed Cell Death Release Of Cytochrome C From Mitochondria Mitochondrion Organization Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Regulation Of Autophagy Positive Regulation Of Release Of Cytochrome C From Mitochondria Regulation Of Protein Metabolic Process Intracellular Chemical Homeostasis Regulation Of Calcium Ion Transport Into Cytosol Blood Vessel Remodeling Regulation Of Homocysteine Metabolic Process 'de Novo' L-methionine Biosynthetic Process Axon Nucleus Localization Nuclear Migration Centriolar Satellite Microtubule Organizing Center Negative Regulation Of Reactive Oxygen Species Metabolic Process Optic Chiasma Development Positive Regulation Of Optic Nerve Formation Proline Dipeptidase Activity Eye Pigmentation Glyoxal Catabolic Process L-dopa Decarboxylase Activator Activity Guanine Deglycation Protein Deglycase Activity Glyoxalase (glycolic Acid-forming) Activity Glycolate Biosynthetic Process Guanine Deglycation, Methylglyoxal Removal Guanine Deglycation, Glyoxal Removal Detoxification Of Mercury Ion Negative Regulation Of Death-inducing Signaling Complex Assembly Cellular Response To Glyoxal Glyoxal Metabolic Process Positive Regulation Of L-dopa Biosynthetic Process Tyrosine 3-monooxygenase Activator Activity	DNA-directed RNA Polymerase Complex RNA Polymerase II, Core Complex DNA-directed RNA Polymerase Activity RNA Polymerase I Complex RNA Polymerase III Complex Nucleoplasm Transcription By RNA Polymerase II DNA-templated Transcription Nucleus Cerebral Cortex Development Nucleolus RNA Metabolic Process Nucleobase-containing Compound Biosynthetic Process Nucleic Acid Binding Cellular Response To Brain-derived Neurotrophic Factor Stimulus Outer Ear Morphogenesis Macromolecule Biosynthetic Process Transcription Coregulator Activity TRNA Transcription By RNA Polymerase III TRNA Transcription Contractile Muscle Fiber Macromolecule Metabolic Process Nucleic Acid Metabolic Process Nucleobase-containing Compound Metabolic Process Striatum Development Transcription By RNA Polymerase I DNA Binding
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