BBS1 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	ACTN3	actinin alpha 3	Nephrin family interactions Striated Muscle Contraction
Novel	ATP6AP2	ATPase H+ transporting accessory protein 2	Metabolism of Angiotensinogen to Angiotensins Neutrophil degranulation		Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
Novel	BAD	BCL2 associated agonist of cell death	Activation of BAD and translocation to mitochondria Activation of BAD and translocation to mitochondria BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members NRAGE signals death through JNK AKT phosphorylates targets in the cytosol Constitutive Signaling by AKT1 E17K in Cancer	Navitoclax
Novel	BAK1	BCL2 antagonist/killer 1	Activation and oligomerization of BAK protein Release of apoptotic factors from the mitochondria
Novel	PEPD	peptidase D
Novel	POLR2G	RNA polymerase II subunit G	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
	BHMT	betaine--homocysteine S-methyltransferase	Sulfur amino acid metabolism Choline catabolism	Methionine S-(D-Carboxybutyl)-L-Homocysteine
	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
	PARK7	Parkinsonism associated deglycase	SUMOylation of transcription cofactors Chaperone Mediated Autophagy Late endosomal microautophagy Aggrephagy Aggrephagy	Copper	Parkinson's disease (PD)
	PAX2	paired box 2			Renal coloboma syndrome (RCS); Papillorenal syndrome
	TSPAN7	tetraspanin 7	Cell surface interactions at the vascular wall Trafficking of GluR2-containing AMPA receptors		Non-syndromic X-linked mental retardation

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