NPHP3 and ATXN1

Number of citations of the paper that reports this interaction (PubMedID 23275563)
7

Data Source:
BioGRID (two hybrid)

		NPHP3	ATXN1
Description		nephrocystin 3	ataxin 1
Image
GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium	Nucleus Nucleoplasm Nucleolus Cytoplasm Cytosol Nuclear Matrix Nuclear Inclusion Body
	Molecular Function	Protein Binding	DNA Binding Protein Binding Protein C-terminus Binding Poly(U) RNA Binding Poly(G) Binding Identical Protein Binding Protein Self-association
	Biological Process	Kidney Development Heart Looping Atrial Septum Development Determination Of Left/right Symmetry Wnt Signaling Pathway Lung Development Determination Of Pancreatic Left/right Asymmetry Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity Convergent Extension Involved In Gastrulation Cilium Assembly Epithelial Cilium Movement Involved In Determination Of Left/right Asymmetry Kidney Morphogenesis Determination Of Intestine Left/right Asymmetry Determination Of Stomach Left/right Asymmetry Determination Of Liver Left/right Asymmetry Ureter Development Negative Regulation Of Canonical Wnt Signaling Pathway Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway Regulation Of Planar Cell Polarity Pathway Involved In Neural Tube Closure	Negative Regulation Of Transcription By RNA Polymerase II Regulation Of Transcription, DNA-templated RNA Processing Nervous System Development Brain Development Learning Memory Social Behavior Negative Regulation Of Transcription, DNA-templated Anatomical Structure Development Nuclear Export
Pathways		Trafficking of myristoylated proteins to the cilium
Drugs
Diseases		Senior-Loken syndrome Renal-hepatic-pancreatic dysplasia Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Meckel syndrome (MKS); Meckel-Gruber syndrome	Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
GWAS		Blood protein levels ( 28240269) Mean corpuscular hemoglobin ( 27863252) Mean corpuscular volume ( 27863252) Menarche (age at onset) ( 27182965 21102462)	Amyotrophic lateral sclerosis ( 19451621) Atrial fibrillation ( 30061737 29892015) Breast cancer ( 29059683) Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) ( 31374203) Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes ( 29221444) Cortical amyloid beta load ( 29860282) Gambling ( 22780124) General cognitive ability ( 29844566) Generalized epilepsy ( 30531953) Granulocyte count ( 27863252) High light scatter reticulocyte count ( 27863252) High light scatter reticulocyte percentage of red cells ( 27863252) Household income (MTAG) ( 31844048) Major depressive disorder ( 23377640) Metabolite levels ( 23823483) Multiple sclerosis ( 31604244) Myeloid white cell count ( 27863252) Neutrophil count ( 29403010 27863252) Reticulocyte count ( 27863252) Reticulocyte fraction of red cells ( 27863252) Subcutaneous adipose tissue attenuation (Hounsfield unit scale) ( 27918534) Sum basophil neutrophil counts ( 27863252) Sum neutrophil eosinophil counts ( 27863252) Systemic lupus erythematosus ( 27399966 28714469) Total body bone mineral density ( 30172743) Visceral adipose tissue attenuation (Hounslow unit scale) ( 27918534) White blood cell count ( 29403010 27863252)
Interacting Genes		2 interacting genes: ATXN1 NPHP1	251 interacting genes: - ACACA ACOT7 ADCY6 ADD3 AHDC1 AKT1 ANKHD1 ANP32A APBB1 ARHGAP32 ARID5A ASNS ATF5 ATP1A3 ATP6V0D1 ATXN1L ATXN2 ATXN2L BAALC BASP1 BATF2 BEND2 BTG3 C1orf94 C2orf27B CAMK2B CCDC136 CCNK CDIP1 CDK6 CFL1 CHRNA7 CIC CIRBP CLASRP CLCN2 CLEC4F COIL CPSF7 CREM CRIP2 CRK CRY2 CST3 DAZAP2 DCTN3 DHRSX DHX37 DIXDC1 DMPK DNAJA3 DOCK5 DZIP3 EFEMP2 EHMT1 EIF1AY EIF1B EIF3F EIF4ENIF1 ELP5 ENTPD6 ESRP1 ESRRA ETV4 FAM193B FAR1 FAT4 FDPS FHL2 FOSL1 FUBP3 FYN GAPDH GATAD1 GCA GCFC2 GGA2 GMEB2 GPATCH8 GSPT1 H2AP H3C1 HEY2 HEYL HIVEP1 HNRNPLL HOTAIR HPCAL1 HSFX1 HSPA1A IGF2R IL34 ILVBL IMMT IPO8 IST1 ITGB4 KAT5 KAT6A KCNAB2 KCTD15 KIAA1549L KIAA2026 KIF22 KLF11 KLHL12 KLHL8 KMT2B LASP1 LDB1 LITAF LOXL1 LPAR2 LRSAM1 MAGEB18 MAGEB2 MAGEB6 MATN2 MBP MED15 METTL17 MLST8 MSMO1 MSX2 MTERF4 MYO18A NARS1 NCAM1 NCOR1 NCOR2 NLK NPHP3 NR4A1 NUDT21 NUMBL NUTM2B OAZ1 OPCML OTX2 PEPD PHPT1 PIAS1 PIM2 PLEKHB1 PML POM121 PPAT PPP6R2 PQBP1 PRDM1 PRR20A PRRC2A PRRC2B PSMC3 PSPH PTGDS PUM1 QKI QRICH1 R3HDM1 R3HDM2 RAD54L2 RAI2 RAPGEF1 RAPGEF4 RBFOX1 RBFOX2 RBM26 RBPMS RCC1L RCN1 REL RHOXF2 RNF31 RNF4 SAR1A SEMA4G SETD2 SF1 SGMS1 SIX5 SLC25A51 SLC4A2 SLC51A SLC6A13 SMARCC2 SPEN SREBF1 SREBF2 ST6GALNAC6 STAC2 STAM2 SUGP2 SUMO1 SUPT20H SV2A SYBU TBC1D5 TBX15 TCAP TCEANC TCTA TDP2 TENT5A TENT5B TMX2 TOLLIP TOMM20 TOX4 TP53I11 TRAF2 TRIM32 TRIM38 TRIP6 TSC1 TTC19 U2AF2 UBAP2L UBE2E3 UBE2I UBQLN4 UHRF1BP1L UHRF2 UNK USP54 USP7 VCP VSNL1 VSTM2L WASHC2C WNK1 WNK2 YWHAE YWHAZ YY1AP1 ZBTB32 ZC3H10 ZC3H7B ZCCHC13 ZHX1 ZHX2 ZHX3 ZNF276 ZNF488 ZNF609 ZNF804A ZSCAN1 ZSWIM8 ZXDC ZYX
Entrez ID		27031	6310
HPRD ID		06417	03333
Ensembl ID		ENSG00000113971	ENSG00000124788
Uniprot IDs		Q7Z494	P54253 Q96FF1
PDB IDs		5L7K	1OA8 2M41 4APT 4AQP 4J2J 4J2L
Enriched GO Terms of Interacting Partners?
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