BBS4 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	AAGAB	alpha and gamma adaptin binding protein
Novel	ANP32A	acidic nuclear phosphoprotein 32 family member A	HuR (ELAVL1) binds and stabilizes mRNA
Novel	IGDCC3	immunoglobulin superfamily DCC subclass member 3
Novel	MRPL28	mitochondrial ribosomal protein L28	Mitochondrial translation initiation Mitochondrial translation elongation Mitochondrial translation elongation Mitochondrial translation termination
Novel	SEMA7A	semaphorin 7A (John Milton Hagen blood group)	Other semaphorin interactions Other semaphorin interactions
	ACTB	actin beta	Translocation of SLC2A4 (GLUT4) to the plasma membrane Gap junction degradation Formation of annular gap junctions Regulation of actin dynamics for phagocytic cup formation Regulation of actin dynamics for phagocytic cup formation HATs acetylate histones Prefoldin mediated transfer of substrate to CCT/TriC Folding of actin by CCT/TriC EPHB-mediated forward signaling EPH-ephrin mediated repulsion of cells Adherens junctions interactions Adherens junctions interactions Recycling pathway of L1 Recycling pathway of L1 VEGFA-VEGFR2 Pathway Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins Cell-extracellular matrix interactions B-WICH complex positively regulates rRNA expression RHO GTPases activate IQGAPs RHO GTPases Activate WASPs and WAVEs RHO GTPases Activate WASPs and WAVEs RHO GTPases Activate Formins RHO GTPases Activate Formins MAP2K and MAPK activation UCH proteinases DNA Damage Recognition in GG-NER Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Clathrin-mediated endocytosis Signaling downstream of RAS mutants Signaling by RAF1 mutants FCGR3A-mediated phagocytosis FCGR3A-mediated phagocytosis Factors involved in megakaryocyte development and platelet production	Quercetin Phenethyl Isothiocyanate	Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
	BHMT	betaine--homocysteine S-methyltransferase	Sulfur amino acid metabolism Choline catabolism	Methionine S-(D-Carboxybutyl)-L-Homocysteine
	C2CD6	C2 calcium dependent domain containing 6
	CALCA	calcitonin related polypeptide alpha	G alpha (s) signalling events Calcitonin-like ligand receptors ADORA2B mediated anti-inflammatory cytokines production Amyloid fiber formation G alpha (s) signalling events Calcitonin-like ligand receptors ADORA2B mediated anti-inflammatory cytokines production	Olcegepant Telcagepant Eptinezumab Fremanezumab Galcanezumab
	DCTN1	dynactin subunit 1	MHC class II antigen presentation HSP90 chaperone cycle for steroid hormone receptors (SHR) XBP1(S) activates chaperone genes COPI-mediated anterograde transport COPI-independent Golgi-to-ER retrograde traffic		Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease Perry syndrome Distal hereditary motor neuropathies (dHMN)
	EEF1A1	eukaryotic translation elongation factor 1 alpha 1	Eukaryotic Translation Elongation Eukaryotic Translation Elongation Peptide chain elongation HSF1 activation Neutrophil degranulation Protein methylation Chaperone Mediated Autophagy	Zinc Guanosine-5'-Diphosphate Copper Artenimol Zinc acetate Zinc chloride Zinc sulfate, unspecified form
	EIF3A	eukaryotic translation initiation factor 3 subunit A	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Formation of a pool of free 40S subunits Formation of the ternary complex, and subsequently, the 43S complex Ribosomal scanning and start codon recognition GTP hydrolysis and joining of the 60S ribosomal subunit
	EPAS1	endothelial PAS domain protein 1	Regulation of gene expression by Hypoxia-inducible Factor Cellular response to hypoxia Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Transcriptional regulation of pluripotent stem cells PTK6 Expression Neddylation Pexophagy	PT2977	Congenital polycythemia; Familial erythrocytosis (ECYT)
	EXOC7	exocyst complex component 7	Translocation of SLC2A4 (GLUT4) to the plasma membrane Insulin processing VxPx cargo-targeting to cilium
	FHOD1	formin homology 2 domain containing 1
	HSCB	HscB mitochondrial iron-sulfur cluster cochaperone	Mitochondrial protein import Mitochondrial protein import Mitochondrial iron-sulfur cluster biogenesis
	KRT18	keratin 18	Keratinization Formation of the cornified envelope
	MYOG	myogenin	Myogenesis Myogenesis
	OAS1	2'-5'-oligoadenylate synthetase 1	Interferon gamma signaling OAS antiviral response Interferon alpha/beta signaling	Cysteine-S-acetamide
	PAX2	paired box 2			Renal coloboma syndrome (RCS); Papillorenal syndrome

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