BLOC1S6 and SMN2

Number of citations of the paper that reports this interaction (PubMedID 25416956)
381

Data Source:
BioGRID (two hybrid)

		BLOC1S6	SMN2
Description		biogenesis of lysosomal organelles complex 1 subunit 6	survival of motor neuron 2, centromeric
Image		No pdb structure
GO Annotations	Cellular Component	Cell Cytoplasm Cytosol Extrinsic Component Of Membrane Transport Vesicle BLOC-1 Complex SNARE Complex Presynapse Axon Cytoplasm	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	Protein Binding Syntaxin Binding Identical Protein Binding Protein Homodimerization Activity Actin Filament Binding	RNA Binding Protein Binding Identical Protein Binding
	Biological Process	Anterograde Axonal Transport Synaptic Vesicle Docking Neuron Projection Development Melanosome Transport Melanosome Organization Endosome To Melanosome Transport Intracellular Transport Anterograde Synaptic Vesicle Transport Positive Regulation Of Pigment Cell Differentiation	Spliceosomal Complex Assembly Spliceosomal SnRNP Assembly DNA-templated Transcription, Termination Nervous System Development Import Into Nucleus
Pathways		Golgi Associated Vesicle Biogenesis	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
Interacting Genes		38 interacting genes: ABI2 AGGF1 ANK1 APP BLOC1S1 BLOC1S2 BLOC1S4 CCDC136 CCDC22 CCHCR1 CDK5R1 CORO6 DCTN2 DTNBP1 EPS8 EXOC8 HAUS1 IFT20 KRT13 LURAP1 MED21 NDC80 NDN NTAQ1 NUP62 OLFM2 PLEKHA5 PLEKHF2 RABGEF1 SKA1 SLC4A1 SMN2 SNAPIN STX11 STX12 SYCE3 TPM3 WASHC3	25 interacting genes: BLOC1S6 BYSL CHTOP DDX20 DHX9 FAM9B FBL GAR1 GEMIN2 HNRNPUL1 POLR1C POLR2A PPIG SMN1 SNRPB SNRPB2 SNRPD1 SNRPD2 SNRPD3 SNRPE SNRPF SNRPG TIAL1 USP9X VPS28
Entrez ID		26258	6607
HPRD ID		16055	09036
Ensembl ID		ENSG00000104164	ENSG00000205571
Uniprot IDs		B3KY40 H3BST1 Q9UL45	B4DP61 E7EQZ4 Q16637
PDB IDs			1G5V 1MHN 2LEH 4A4E 4A4G 4GLI 4QQ6 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU
Enriched GO Terms of Interacting Partners?
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