BBS1 and PEPD

		BBS1	PEPD
Description		Bardet-Biedl syndrome 1	peptidase D
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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	Extracellular Exosome
	Molecular Function	Signaling Receptor Binding Patched Binding Smoothened Binding Protein Binding Phosphoprotein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	Metallocarboxypeptidase Activity Protein Binding Peptidase Activity Metalloexopeptidase Activity Metallopeptidase Activity Hydrolase Activity Dipeptidase Activity Manganese Ion Binding Metal Ion Binding Metalloaminopeptidase Activity Proline Dipeptidase Activity
	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	Proteolysis Amino Acid Metabolic Process Collagen Catabolic Process Negative Regulation Of Programmed Cell Death CARD8 Inflammasome Complex Assembly
Pathways		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Bipolar disorder ( 21926972) Height ( 28552196)	A body shape index ( 34021172) Adiponectin levels ( 22479202 24105470 31178129) Adult body size ( 32376654) Alanine aminotransferase levels ( 34315874 33547301) Apolipoprotein A1 levels ( 32203549) Appendicular lean mass ( 33097823) Aspartate aminotransferase levels ( 34315874 33547301) Birth weight ( 27680694) Bitter alcoholic beverage consumption ( 31046077) Body fat percentage and HDL-C (pairwise) ( 33619380) Body fat percentage and triglycerides (pairwise) ( 33619380) Creatine kinase levels ( 29403010) Fasting blood insulin (BMI interaction) ( 22581228) Fasting insulin ( 34059833) Fusiform gyrus volume ( 31530798) HDL cholesterol ( 30275531 24097068) HDL cholesterol levels ( 28334899 32203549) HDL cholesterol levels in current drinkers ( 30698716) HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) High light scatter reticulocyte count ( 32888494) Hip circumference adjusted for BMI ( 34021172) Hip index ( 34021172) Lead levels in blood ( 25820613) Liver enzyme levels (alanine transaminase) ( 33972514) Lymphocyte count ( 32888494) Mean corpuscular hemoglobin ( 32888494) Mean corpuscular volume ( 32888494) Mean reticulocyte volume ( 32888494) Monocyte percentage of white cells ( 32888494) Neutrophil count ( 32888494) Reticulocyte count ( 32888494) Schizophrenia ( 26198764) Systolic blood pressure ( 30224653) Triglyceride levels ( 28334899 32203549 32154731) Triglyceride levels in current drinkers ( 30698716) Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Triglycerides ( 24097068 30275531) Type 2 diabetes ( 22158537 28869590 32499647 30718926 30297969) Waist circumference adjusted for BMI (adjusted for smoking behaviour) ( 28443625) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500) Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) ( 28443625) Waist circumference adjusted for BMI in active individuals ( 28448500) Waist circumference adjusted for body mass index ( 28448500 34021172 25673412) Waist-hip index ( 34021172) Waist-hip ratio ( 25673412) Waist-to-hip ratio adjusted for BMI ( 34021172) 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 ( 28448500) White blood cell count ( 32888494)
Interacting Genes		13 interacting genes: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7	4 interacting genes: ATXN1 SPP1 TERF1 USP7
Entrez ID		582	5184
HPRD ID		01950	01358
Ensembl ID		ENSG00000174483	ENSG00000124299
Uniprot IDs		Q8NFJ9	A0A140VJR2 P12955
PDB IDs		6XT9	2IW2 2OKN 5M4G 5M4J 5M4L 5M4Q 5MBY 5MBZ 5MC0 5MC1 5MC2 5MC3 5MC4 5MC5 6H2P 6H2Q 6QSB 6QSC 6SRE 6SRF 6SRG
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	Regulation Of Establishment Of Protein Localization To Chromosome Regulation Of Establishment Of Protein Localization To Telomere Negative Regulation Of Collateral Sprouting Of Intact Axon In Response To Injury Negative Regulation Of Establishment Of Protein Localization To Telomere Negative Regulation Of Establishment Of Protein-containing Complex Localization To Telomere Negative Regulation Of Establishment Of RNA Localization To Telomere Positive Regulation Of Shelterin Complex Assembly Positive Regulation Of Estradiol Secretion Negative Regulation Of Telomeric D-loop Disassembly Negative Regulation Of Telomere Maintenance Via Semi-conservative Replication Regulation Of Telomere Maintenance Photoreceptor Cell Morphogenesis Adult Behavior Regulation Of Estradiol Secretion Symbiont-mediated Disruption Of Host Cell PML Body Hormone Metabolic Process Smoothened Binding POZ Domain Binding Androgen Catabolic Process BBSome Patched Binding Regulation Of Biological Quality Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Poly(G) Binding Negative Regulation Of Insulin-like Growth Factor Receptor Signaling Pathway Response To Macrophage Colony-stimulating Factor Cellular Response To Testosterone Stimulus Response To 2,3,7,8-tetrachlorodibenzodioxine Nuclear Telomere Cap Complex Telomerase Activity Telomere Localization Shelterin Complex Meiotic Telomere Clustering Telomeric D-loop Disassembly Regulation Of Chromosome Organization Ankyrin Repeat Binding Double-stranded Telomeric DNA Binding Chromosome Localization To Nuclear Envelope Involved In Homologous Chromosome Segregation Monoubiquitinated Protein Deubiquitination Regulation Of Retrograde Transport, Endosome To Golgi Olfactory Behavior G-rich Strand Telomeric DNA Binding Nuclear Inclusion Body Negative Regulation Of Collateral Sprouting Negative Regulation Of Axon Regeneration T-circle Formation Telomeric Loop Disassembly Telomere Capping DNA Alkylation Repair Transcription-coupled Nucleotide-excision Repair
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