BBS9 and CAPN1

		BBS9	CAPN1
Description		Bardet-Biedl syndrome 9	calpain 1
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GO Annotations	Cellular Component	Pericentriolar Material Nucleoplasm Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cilium Membrane Centriolar Satellite BBSome Ciliary Transition Zone Ciliary Basal Body Cell Projection Ciliary Membrane	Cornified Envelope Extracellular Region Cytoplasm Mitochondrion Lysosome Cytosol Plasma Membrane Focal Adhesion Membrane Extracellular Exosome Calpain Complex Ficolin-1-rich Granule Lumen
	Molecular Function	Molecular_function Protein Binding	Calcium-dependent Cysteine-type Endopeptidase Activity Calcium Ion Binding Protein Binding Peptidase Activity Cysteine-type Peptidase Activity Hydrolase Activity Metal Ion Binding
	Biological Process	Visual Perception Protein Transport Cell Projection Organization Fat Cell Differentiation Cilium Assembly Protein Localization To Cilium	Proteolysis Positive Regulation Of Cell Population Proliferation Regulation Of Macroautophagy Receptor Catabolic Process Regulation Of Catalytic Activity Mammary Gland Involution Self Proteolysis NMDA Selective Glutamate Receptor Signaling Pathway
Pathways		BBSome-mediated cargo-targeting to cilium	Degradation of the extracellular matrix Degradation of the extracellular matrix Neutrophil degranulation Formation of the cornified envelope Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
Drugs			4-[[(2S)-2-[[(2S)-3-Carboxy-2-hydroxypropanoyl]amino]-4-methylpentanoyl]amino]butyl-(diaminomethylidene)azanium N-[(benzyloxy)carbonyl]-L-leucyl-N-[(1S)-3-fluoro-1-(4-hydroxybenzyl)-2-oxopropyl]-L-leucinamide (2S)-4-METHYL-2-(3-PHENYLTHIOUREIDO)-N-((3S)-TETRAHYDRO-2-HYDROXY-3-FURANYL)PENTANAMIDE
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Acute kidney injury in coronary artery bypass surgery (creatinine rise) ( 26083657) Asthma ( 29273806) Body size at age 10 ( 32376654) Brain morphology (MOSTest) ( 32665545) Disease progression in age-related macular degeneration ( 29346644) Intraocular pressure ( 29785010 31959993) Left–right brain asymmetry ( 33723403) Leprosy ( 27976721) Lung function in never smokers (low FEV1 vs high FEV1) ( 26423011) Metopic nonsyndromic craniosynostosis ( 32266521) Postoperative stroke after cardiac surgery ( 30678657) Sagittal craniosynostosis ( 23160099) Smooth-surface caries ( 24556642) Subcortical volume (MOSTest) ( 32665545) Subjective response to placebo treatment in childhood asthma (change in cough/wheeze) ( 31557306)	Urate levels ( 31578528)
Interacting Genes		2 interacting genes: TOM1 TOM1L2	55 interacting genes: ACTC1 ACTN2 ARF6 ATG5 ATXN3 BCL2L1 BID CAPNS1 CASP14 CAST CBL CDK5R1 CLEC4G COL1A1 COL3A1 CREG1 CTSC DES ECHS1 F2R F2RL1 FANCA FANCG FHL2 GNG12 GPT GRIN2B HNRNPD IL1A INPP4A ITGB3 KCTD7 KNG1 LAMTOR1 MAPT MYBPC3 NDUFB7 NFE2L1 NFKBIA PRMT5 PSEN2 PTGDS RAD21 SH3BGR SLC22A1 SLIT3 SPTAN1 SPTBN1 STAT3 SYNE1 TINAGL1 TLE5 TP53 UFSP2 VIM
Entrez ID		27241	823
HPRD ID		16262	00253
Ensembl ID		ENSG00000122507	ENSG00000014216
Uniprot IDs		A0A090N7W2 A0A090N8P4 A0A5F9ZGY2 A0A5F9ZH14 A0A5F9ZH74 A0A5F9ZHE7 Q3SYG4	B2RDI5 B4DWH5 P07384
PDB IDs		4YD8 6XT9	1ZCM 2ARY 7W7O 7X79 8GX3
Enriched GO Terms of Interacting Partners?		Regulation Of Macroautophagy Clathrin Binding Regulation Of Autophagy Negative Regulation Of Monocyte Activation Specific Granule Membrane Growth Factor Dependent Regulation Of Skeletal Muscle Satellite Cell Proliferation Response To Wortmannin Positive Regulation Of Inner Ear Receptor Cell Differentiation Positive Regulation Of Endothelial Cell Chemotaxis To Fibroblast Growth Factor Angiogenesis Involved In Coronary Vascular Morphogenesis Regulation Of Retinal Cell Programmed Cell Death Lymphatic Endothelial Cell Migration Positive Regulation Of Cell Fate Specification Positive Regulation Of Lens Fiber Cell Differentiation Positive Regulation Of Inner Ear Auditory Receptor Cell Differentiation Corticotropin Hormone Secreting Cell Differentiation Ubiquitin Binding Myosin VI Binding Phosphatidylinositol Binding Phenotypic Switching Histone H3K56 Methyltransferase Activity Sperm Cytoplasmic Droplet Calpain Complex Protein Tyrosine Phosphatase Activator Activity Receptor-receptor Interaction Mammary Gland Involution Adult Behavior Chondroblast Differentiation Positive Regulation Of Cerebellar Granule Cell Precursor Proliferation Regulation Of Endosome Organization Peptidyl-lysine Dimethylation	Organelle Organization Regulation Of Programmed Cell Death Response To Alcohol Regulation Of Organelle Organization Regulation Of Apoptotic Process Identical Protein Binding Positive Regulation Of Organelle Organization Regulation Of Multicellular Organismal Process Protease Binding Cytoplasm Regulation Of Signal Transduction Regulation Of Cellular Component Organization Developmental Process Regulation Of Cell Communication Regulation Of Signaling Cellular Response To Amino Acid Stimulus Positive Regulation Of Gene Expression Response To Lipid Positive Regulation Of Programmed Cell Death Negative Regulation Of MiRNA-mediated Gene Silencing Negative Regulation Of Post-transcriptional Gene Silencing By Regulatory NcRNA Negative Regulation Of Gene Expression Regulation Of Intracellular Signal Transduction Hepatocyte Apoptotic Process Cytosol Regulation Of Actin Filament Depolymerization Negative Regulation Of Apoptotic Process Cell Junction Maintenance Regulation Of Renin Secretion Into Blood Stream Regulation Of Autophagy Sarcomere Negative Regulation Of Programmed Cell Death Regulation Of Actin Filament-based Process Regulation Of Mitochondrial Membrane Permeability G-protein Beta-subunit Binding Regulation Of Protein Localization Response To Amino Acid Release Of Cytochrome C From Mitochondria Negative Regulation Of Macromolecule Metabolic Process Negative Regulation Of Metabolic Process Positive Regulation Of Signal Transduction Response To Fluoride Regulation Of Protein-containing Complex Disassembly Positive Regulation Of Apoptotic Process Cellular Component Maintenance Regulation Of Membrane Permeability Cysteine-type Peptidase Activity Positive Regulation Of Cellular Component Organization Regulation Of MiRNA-mediated Gene Silencing Negative Regulation Of Protein Localization
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