C9orf72 and SMN1

Data Source:
BioGRID (unspecified method)

		C9orf72	SMN1
Description		C9orf72-SMCR8 complex subunit	survival of motor neuron 1, telomeric
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GO Annotations	Cellular Component	P-body Extracellular Space Nucleus Cytoplasm Lysosome Endosome Autophagosome Cytosol Cytoplasmic Stress Granule Dendrite Nuclear Membrane Guanyl-nucleotide Exchange Factor Complex Perikaryon Intracellular Membrane-bounded Organelle Axonal Growth Cone Main Axon Flemming Body Atg1/ULK1 Kinase Complex	Nucleus Nucleoplasm Cytoplasm Cytosol Cajal Body Nuclear Body Z Disc Axon SMN Complex SMN-Sm Protein Complex Cytoplasmic Ribonucleoprotein Granule Neuron Projection Perikaryon Gemini Of Coiled Bodies
	Molecular Function	Guanyl-nucleotide Exchange Factor Activity Protein Binding Small GTPase Binding	RNA Binding Protein Binding Identical Protein Binding
	Biological Process	Negative Regulation Of Protein Phosphorylation Endocytosis Autophagy Regulation Of Autophagy Positive Regulation Of Macroautophagy Stress Granule Assembly Axon Extension Regulation Of Catalytic Activity Regulation Of Actin Filament Organization Late Endosome To Lysosome Transport Regulation Of TORC1 Signaling Regulation Of Autophagosome Assembly	Spliceosomal Complex Assembly Spliceosomal SnRNP Assembly DNA-templated Transcription, Termination Nervous System Development Import Into Nucleus
Pathways			snRNP Assembly
Drugs			Nusinersen
Diseases			Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD)
GWAS		Amyotrophic lateral sclerosis ( 30976013 25442119 29566793 22959728 27455348 19734901 20801718 24931836) Amyotrophic lateral sclerosis (sporadic) ( 28931804) Delirium ( 29631748) Metabolite levels ( 23823483) PCA3 expression level ( 23555189)
Interacting Genes		14 interacting genes: APP COIL CRX EIF2B2 HMG20A NMI POP7 REL SMCR8 SMN1 SRPK1 SYN3 TRIM73 VRTN	165 interacting genes: A1BG A2M ACTB ACTL6B ADAMTS10 AGAP1 ANXA2 APLP1 ARFGAP1 ATP5F1B ATP6V1A BAG6 BCL2 BLOC1S6 BYSL C9orf72 CARHSP1 CCDC90B CENPB CHTOP COIL COL4A2 COL4A5 COPS6 CPNE6 CRIP2 CSAD DDAH2 DDX20 DHX9 DMPK DOCK7 DUS2 DYNC1I1 EEF1A1 EEF1A2 EHHADH EIF3G EXT2 EZH2 FAM20C FAM9B FBL FGB FLAD1 FNDC11 FUBP1 GAPDH GAR1 GDF9 GEMIN2 GEMIN5 GEMIN7 H3-4 HADHB HMGXB3 HNRNPR HNRNPU HNRNPUL1 IGHM ILF3 IMMT INPP5K IQUB ITCH JADE1 KDM1A KIF5A KLHL5 KMT2B KPNB1 KRTAP19-6 KRTAP19-7 KRTAP21-2 KRTAP6-1 KRTAP6-2 LENG8 LRIF1 LSM1 LSM10 LSM11 LSM2 LSM3 LSM4 LSM5 LSM6 LSM7 MAGED1 MAST2 MED31 MKI67 MPP1 MRPL37 MSH2 NGFR NKIRAS2 NMT2 NRN1 NTAQ1 OSTF1 PDE4DIP PKM PLXNA3 POLR1C POLR2A POP7 PPIG PSME1 QARS1 RBBP4 RBBP6 RBFOX2 RBM48 REX1BD RN7SL1 RNU1-1 RNU11 RNU2-1 RNU4-1 RPL13 RPS2 RXRA SCARNA1 SDF4 SELENOW SEMA5B SETDB1 SMC5 SMN2 SNORA81 SNRPB SNRPD1 SNRPD2 SNRPD3 SNRPE SNU13 SNUPN SP110 SPANXN2 STRAP STXBP2 STXBP3 SULT1A3 SUMO3 SYNCRIP TAF1C TERC TIAL1 TLE1 TMSB4X TP53 TRMT2A TUBA1A TUBB3 UCHL1 UNC119 USP4 VPS28 WDR18 WDR73 WIZ ZBTB16 ZNF431 ZRANB2 ZXDC
Entrez ID		203228	6606
HPRD ID		12975	02646
Ensembl ID		ENSG00000147894	ENSG00000172062
Uniprot IDs		Q96LT7	B4DP61 E7EQZ4 Q16637
PDB IDs		6LT0 6V4U	1G5V 1MHN 2LEH 4A4E 4A4G 4GLI 4QQ6 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU
Enriched GO Terms of Interacting Partners?
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