RPGR - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
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	NUDT12	nudix hydrolase 12	Nicotinamide salvaging
Novel	SLC9A7	solute carrier family 9 member A7	Sodium/Proton exchangers
Novel	TSPAN7	tetraspanin 7	Cell surface interactions at the vascular wall Trafficking of GluR2-containing AMPA receptors		Non-syndromic X-linked mental retardation
Novel	USP9X	ubiquitin specific peptidase 9 X-linked	Downregulation of SMAD2/3:SMAD4 transcriptional activity Ub-specific processing proteases Synthesis of active ubiquitin: roles of E1 and E2 enzymes Peroxisomal protein import Peroxisomal protein import Amyloid fiber formation
	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)
	DCTN2	dynactin subunit 2	MHC class II antigen presentation Regulation of PLK1 Activity at G2/M Transition HSP90 chaperone cycle for steroid hormone receptors (SHR) Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane COPI-mediated anterograde transport COPI-independent Golgi-to-ER retrograde traffic AURKA Activation by TPX2
	HOMEZ	homeobox and leucine zipper encoding
	IFT88	intraflagellar transport 88	Hedgehog 'off' state Intraflagellar transport Intraflagellar transport Chaperone Mediated Autophagy Late endosomal microautophagy Aggrephagy Aggrephagy
	KIF3A	kinesin family member 3A	Translocation of SLC2A4 (GLUT4) to the plasma membrane MHC class II antigen presentation Hedgehog 'off' state Intraflagellar transport Activation of SMO Activation of SMO COPI-dependent Golgi-to-ER retrograde traffic Kinesins Kinesins
	KIFAP3	kinesin associated protein 3	Translocation of SLC2A4 (GLUT4) to the plasma membrane MHC class II antigen presentation Intraflagellar transport COPI-dependent Golgi-to-ER retrograde traffic Kinesins Kinesins
	NPM1	nucleophosmin 1	Nuclear import of Rev protein Nuclear import of Rev protein SUMOylation of transcription cofactors Deposition of new CENPA-containing nucleosomes at the centromere TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation	Artenimol
	PDE6D	phosphodiesterase 6D	ARL13B-mediated ciliary trafficking of INPP5E RAS processing
	RPGRIP1	RPGR interacting protein 1			Leber congenital amaurosis (LCR) Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
	SLC25A10	solute carrier family 25 member 10	Sulfide oxidation to sulfate Organic anion transporters Gluconeogenesis
	SMC1A	structural maintenance of chromosomes 1A	Meiotic synapsis Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion Cohesin Loading onto Chromatin Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins Estrogen-dependent gene expression		Cornelia de Lange syndrome (CdLS)
	SMC3	structural maintenance of chromosomes 3	Meiotic synapsis Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion Cohesin Loading onto Chromatin Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins Estrogen-dependent gene expression		Cornelia de Lange syndrome (CdLS)
	TUBG1	tubulin gamma 1	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2	Vinblastine
	YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	Activation of BAD and translocation to mitochondria Translocation of SLC2A4 (GLUT4) to the plasma membrane Signaling by Hippo NADE modulates death signalling Regulation of PLK1 Activity at G2/M Transition Regulation of HSF1-mediated heat shock response HSF1 activation Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane RHO GTPases activate PKNs TP53 Regulates Metabolic Genes Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex AURKA Activation by TPX2 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models RAB GEFs exchange GTP for GDP on RABs	Fusicoccin Phenethyl Isothiocyanate	Lissencephaly (LIS); Miller-Dieker syndrome (MDLS)

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