SMN2 and BLOC1S6

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

Data Source:
BioGRID (two hybrid)

		SMN2	BLOC1S6
Description		survival of motor neuron 2, centromeric	biogenesis of lysosomal organelles complex 1 subunit 6
Image			No pdb structure
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	Cell Cytoplasm Cytosol Extrinsic Component Of Membrane Transport Vesicle BLOC-1 Complex SNARE Complex Presynapse Axon Cytoplasm
	Molecular Function	RNA Binding Protein Binding Identical Protein Binding	Protein Binding Syntaxin Binding Identical Protein Binding Protein Homodimerization Activity Actin Filament Binding
	Biological Process	Spliceosomal Complex Assembly Spliceosomal SnRNP Assembly DNA-templated Transcription, Termination Nervous System Development Import Into Nucleus	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
Pathways		snRNP Assembly	Golgi Associated Vesicle Biogenesis
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		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	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
Entrez ID		6607	26258
HPRD ID		09036	16055
Ensembl ID		ENSG00000205571	ENSG00000104164
Uniprot IDs		B4DP61 E7EQZ4 Q16637	B3KY40 H3BST1 Q9UL45
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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