SMN1 and COL4A5

Data Source:
BioGRID (two hybrid)

		SMN1	COL4A5
Description		survival of motor neuron 1, telomeric	collagen type IV alpha 5 chain
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GO Annotations	Cellular Component	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	Extracellular Region Collagen Type IV Trimer Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Neuromuscular Junction Collagen-containing Extracellular Matrix
	Molecular Function	RNA Binding Protein Binding Identical Protein Binding	Extracellular Matrix Structural Constituent Extracellular Matrix Structural Constituent Conferring Tensile Strength
	Biological Process	Spliceosomal Complex Assembly Spliceosomal SnRNP Assembly DNA-templated Transcription, Termination Nervous System Development Import Into Nucleus	Neuromuscular Junction Development Extracellular Matrix Organization Collagen-activated Tyrosine Kinase Receptor Signaling Pathway
Pathways		snRNP Assembly	Collagen degradation Collagen degradation Extracellular matrix organization Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Integrin cell surface interactions Anchoring fibril formation Crosslinking of collagen fibrils Laminin interactions Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans NCAM1 interactions Collagen chain trimerization Regulation of expression of SLITs and ROBOs
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)	Alport syndrome
GWAS
Interacting Genes		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	46 interacting genes: ABHD4 ANTXR2 ANXA7 APP ATP6V0B BSND CD53 CD79A CD93 CDKN1A CERS4 CLDN7 DAZAP2 DCN ELOVL4 ERGIC3 FAM209A FBLN2 FFAR2 FN1 GPX8 HABP2 KCNJ6 MATN2 MFF MMP9 MTIF3 NCR3LG1 NEMP1 NR1H2 OSM RELL2 RNF10 SAR1A SERPINE2 SLC10A4 SLC10A6 SLC16A2 SLC18A1 SLC35C2 SLC39A2 SMN1 THAP4 TK1 TMEM80 TSPO2
Entrez ID		6606	1287
HPRD ID		02646	02363
Ensembl ID		ENSG00000172062	ENSG00000188153
Uniprot IDs		B4DP61 E7EQZ4 Q16637	A7MBN3 P29400 Q49AM6
PDB IDs		1G5V 1MHN 2LEH 4A4E 4A4G 4GLI 4QQ6 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU	5NAZ
Enriched GO Terms of Interacting Partners?
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