BLOC1S6 and SMN2

Number of citations of the paper that reports this interaction (PubMedID 32296183)
50

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	Stress Fiber Ruffle Cytoplasm Endosome Cytosol Focal Adhesion Membrane Transport Vesicle BLOC-1 Complex Cytoplasmic Vesicle Filamentous Actin Cell-cell Contact Zone Contractile Ring Presynapse Axon Cytoplasm Microvesicle	Nucleus Nucleoplasm Cytoplasm Cytosol Cajal Body Nuclear Body Z Disc Axon SMN Complex SMN-Sm Protein Complex Cytoplasmic Ribonucleoprotein Granule Cell Projection Neuron Projection Perikaryon Gemini Of Cajal Bodies
	Molecular Function	Protein Binding Syntaxin Binding Identical Protein Binding Protein Homodimerization Activity Actin Filament Binding Molecular Adaptor Activity	RNA Binding Protein Binding Identical Protein Binding
	Biological Process	Kidney Development Bradykinin Biosynthetic Process Respiratory System Process Endothelium Development Amino Acid Metabolic Process Glutamate Metabolic Process Glutamine Metabolic Process Protein Targeting Lipid Metabolic Process Phospholipid Metabolic Process Blood Coagulation Memory Anterograde Axonal Transport Protein Secretion Response To Xenobiotic Stimulus Gene Expression Response To Activity Synaptic Vesicle Docking Dentate Gyrus Development Hypothalamus Development Melanocyte Differentiation Lung Development Neuron Projection Development Melanosome Transport Melanosome Organization Positive Regulation Of Natural Killer Cell Activation Secretion Of Lysosomal Enzymes Intracellular Nitric Oxide Homeostasis Multicellular Organism Growth Endosome To Melanosome Transport Vasodilation Circadian Sleep/wake Cycle Pigmentation ATP Metabolic Process Adenosine Metabolic Process Intracellular Transport Lung Alveolus Development Anterograde Synaptic Vesicle Transport Homeostasis Of Number Of Cells Positive Regulation Of Pigment Cell Differentiation Actin Filament Bundle Assembly Lipid Homeostasis Cilium Assembly Membrane Fusion Cellular Response To Epidermal Growth Factor Stimulus Protein Transmembrane Transport Response To Acetylcholine	Spliceosomal Complex Assembly RNA Splicing, Via Transesterification Reactions Spliceosomal SnRNP Assembly DNA-templated Transcription Termination MRNA Processing Nervous System Development RNA Splicing
Pathways		Golgi Associated Vesicle Biogenesis	snRNP Assembly SARS-CoV-2 modulates host translation machinery
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		49 interacting genes: ABI2 AGGF1 ANK1 APP BLOC1S1 BLOC1S2 BLOC1S4 C4orf46 CCDC136 CCDC22 CCHCR1 CCR2 CDK5R1 CEP44 CORO6 DCTN2 DTNBP1 EPS8 EXOC8 HAUS1 IFT20 INSYN1 KRT13 KRT72 LURAP1 MED21 MLPH NDC80 NDN NTAQ1 NUP62 OLFM2 PLEKHA5 PLEKHF2 RABGEF1 RINT1 SKA1 SLC4A1 SMN1 SMN2 SNAPIN STX11 STX12 STX1A SYCE3 TPM1 TPM3 TRAK1 WASHC3	37 interacting genes: BLOC1S6 BYSL CHTOP DDX20 DHX9 EHHADH FAM9B FBL FNDC11 GAR1 GEMIN2 HNRNPUL1 IQUB KRTAP19-6 KRTAP19-7 KRTAP21-2 KRTAP6-1 KRTAP6-2 MAGED1 MBD2 POLR1C POLR2A PPIG SMN1 SNRPB SNRPB2 SNRPD1 SNRPD2 SNRPD3 SNRPE SNRPF SNRPG SNU13 SPANXN2 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 7W2P 7W30
Enriched GO Terms of Interacting Partners?		Organelle Localization BLOC-1 Complex Establishment Of Localization In Cell Intracellular Transport Cellular Localization Axo-dendritic Transport Organelle Organization Establishment Of Organelle Localization Microtubule-based Process Establishment Of Vesicle Localization Anterograde Synaptic Vesicle Transport Vesicle Organization Transport Along Microtubule Vesicle Localization Vesicle Transport Along Microtubule Cytoskeleton-dependent Intracellular Transport Microtubule-based Transport Vesicle Cytoskeletal Trafficking Axon Cytoplasm Axonal Transport Protein Transport Establishment Of Protein Localization Synaptic Vesicle Transport Melanosome Organization Pigment Granule Organization Vesicle-mediated Transport Anterograde Axonal Transport Organelle Transport Along Microtubule Intracellular Protein Localization Cytoplasm Cytosol Neuron Projection Neuron Projection Development Regulation Of Lysosome Size BORC Complex Microtubule-based Movement Exocytosis Growth Cone Cytoskeleton Organization Perikaryon Regulation Of Endosome Size Cytoplasmic Side Of Lysosomal Membrane Cell Projection Organization Supramolecular Fiber Organization Regulation Of Supramolecular Fiber Organization Centrosome Secretion By Cell Regulation Of Vesicle Size Lysosome Localization PTB Domain Binding	SMN-Sm Protein Complex Spliceosomal SnRNP Assembly 7-methylguanosine Cap Hypermethylation Spliceosomal Complex Assembly U1 SnRNP U4 SnRNP Methylosome Protein-RNA Complex Assembly U2-type Prespliceosome Assembly RNA Splicing, Via Transesterification Reactions RNA Splicing U2 SnRNP U2-type Precatalytic Spliceosome U2-type Spliceosomal Complex U2-type Catalytic Step 2 Spliceosome Small Nuclear Ribonucleoprotein Complex U5 SnRNP U4/U6 X U5 Tri-snRNP Complex RNA Processing U12-type Spliceosomal Complex MRNA Processing PICln-Sm Protein Complex MRNA Splicing, Via Spliceosome Ribonucleoprotein Complex MRNA Metabolic Process U7 SnRNP Precatalytic Spliceosome Spliceosomal Complex RNA Methylation RNA Metabolic Process Catalytic Step 2 Spliceosome RNA Binding RNA Modification Macromolecule Methylation Nucleic Acid Metabolic Process Nucleobase-containing Compound Metabolic Process Methylation Nucleoplasm Telomerase Holoenzyme Complex Protein-containing Complex Assembly Spliceosomal Tri-snRNP Complex Cellular Component Assembly Protein-containing Complex Organization Cytosol SMN Complex Gemini Of Cajal Bodies DNA-templated Transcription Termination Telomerase RNA Binding Intermediate Filament Histone Pre-mRNA DCP Binding
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