BBS1 and PEPD

Data Source:
BioGRID (proximity labelling technology)

		BBS1	PEPD
Description		Bardet-Biedl syndrome 1	peptidase D
Image
GO Annotations	Cellular Component	Centrosome Cytosol Axoneme BBSome Ciliary Basal Body Ciliary Membrane	Extracellular Exosome
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Patched Binding Smoothened Binding Protein Binding	Metallocarboxypeptidase Activity Protein Binding Peptidase Activity Manganese Ion Binding Metalloaminopeptidase Activity Proline Dipeptidase Activity
	Biological Process	Visual Perception Sensory Perception Of Smell Golgi To Plasma Membrane Protein Transport Photoreceptor Cell Maintenance Response To Stimulus Cilium Assembly Protein Localization To Cilium Non-motile Cilium Assembly	Proteolysis Cellular Amino Acid Metabolic Process Collagen Catabolic Process
Pathways		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Bipolar disorder ( 21926972) Height ( 28552196)	Adiponectin levels ( 22479202 31178129 24105470) Adult body size ( 32376654) Apolipoprotein A1 levels ( 32203549) Birth weight ( 27680694) Bitter alcoholic beverage consumption ( 31046077) Creatine kinase levels ( 29403010) Fasting blood insulin (BMI interaction) ( 22581228) Fusiform gyrus volume ( 31530798) HDL cholesterol ( 24097068 30275531) HDL cholesterol levels ( 32203549 28334899) 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) Lead levels in blood ( 25820613) Lymphocyte counts ( 32888494) Mean corpuscular hemoglobin ( 32888494) Mean corpuscular volume ( 32888494) Mean reticulocyte volume ( 32888494) Monocyte count ( 32888494) Monocyte percentage of white cells ( 32888494) Neutrophil count ( 32888494) Reticulocyte count ( 32888494) Schizophrenia ( 26198764) Systolic blood pressure ( 30224653) Triglyceride levels ( 32203549 28334899 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 ( 30297969 32499647 22158537 30718926 28869590) 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 ( 25673412 28448500) Waist-hip ratio ( 25673412) 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?
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