SAMHD1 and DYSF

Number of citations: 48 (PubMedID 23414517)
Data Source: BioGRID (two hybrid, imaging technique)

		SAMHD1	DYSF
Name		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	dysferlin
Structure
GO Annotations	Cellular Component	Nucleus Nucleoplasm Chromosome Plasma Membrane Site Of Double-strand Break Tetraspanin-enriched Microdomain	Endosome Early Endosome Late Endosome Plasma Membrane Endomembrane System Membrane Endocytic Vesicle T-tubule Cytoplasmic Vesicle Membrane Synaptic Vesicle Membrane Cytoplasmic Vesicle Late Endosome Membrane Centriolar Satellite Sarcolemma Extracellular Exosome
	Molecular Function	Nucleotide Binding Nucleic Acid Binding Single-stranded DNA Binding RNA Binding Catalytic Activity RNA Nuclease Activity Protein Binding GTP Binding Zinc Ion Binding DGTPase Activity Hydrolase Activity Triphosphoric Monoester Hydrolase Activity DGTP Binding Identical Protein Binding Metal Ion Binding Deoxynucleoside Triphosphate Hydrolase Activity	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding Lipid Binding Metal Ion Binding
	Biological Process	Double-strand Break Repair Via Homologous Recombination Immune System Process DGTP Catabolic Process DNA Replication DNA Repair Immune Response DNA Damage Response Deoxyribonucleotide Catabolic Process Somatic Hypermutation Of Immunoglobulin Genes Innate Immune Response Regulation Of Innate Immune Response DATP Catabolic Process Protein Homotetramerization Defense Response To Virus Negative Regulation Of Type I Interferon-mediated Signaling Pathway DNA Strand Resection Involved In Replication Fork Processing	Monocyte Activation Involved In Immune Response Macrophage Activation Involved In Immune Response Regulation Of Neurotransmitter Secretion Negative Regulation Of Phagocytosis
Pathways		Nucleotide catabolism Interferon alpha/beta signaling	Smooth Muscle Contraction Smooth Muscle Contraction
Diseases		Aicardi-Goutieres Syndrome (AGS)	Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Distal myopathy with anterior tibial onset (DMAT) Limb-girdle muscular dystrophy (LGMD) Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
GWAS		Caffeine consumption from coffee or tea ( 33287642 ) Height ( 28552196 )	Appendicular lean mass ( 33097823 ) Asthma ( 32296059 ) Extremely high intelligence ( 29520040 ) General cognitive ability ( 29844566 ) Hip circumference adjusted for BMI ( 28552196 34021172 ) Nonalcoholic steatohepatitis-derived hepatocellular carcinoma ( 29385134 ) PR interval in Tripanosoma cruzi seropositivity ( 24324551 ) Protein quantitative trait loci ( 18464913 ) Urate levels in overweight individuals ( 25811787 )
Novel Interactors		3 novel interactors: AAR2 KIZ XPO1	None recorded
Interacting Genes		15 interacting genes: ACTB APP ARAP3 CDK1 CHUK DYSF FAM13B FBXO25 FBXO7 IKBKB NONO SUMO2 TIRAP TRIM21 USP7	40 interacting genes: AKAP1 ANKRD1 ANXA1 ANXA2 APPL1 CAPN3 CAV3 CMYA5 COL12A1 COL6A3 DGKD DHX15 DNAJB6 EEF1A1 EEF1G FAM120A GNL3 KARS1 KIF1B MORF4L1 MYBPC1 MYBPC2 MYH3 MYOM1 MYOM2 NPHP3 OPTN OS9 PHF1 PLP1 RNF10 RNF2 SAMHD1 SGCG SLC12A6 SNAPIN TAF1 XIRP2 XRCC6 ZNF23
Entrez ID		25939	8291
HPRD ID		08418	04307
Ensembl ID		ENSG00000101347	ENSG00000135636
Uniprot IDs		A0A2R8YCS7 Q59H15 Q9Y3Z3	O75923
PDB IDs		2E8O 3U1N 4BZB 4BZC 4CC9 4MZ7 4Q7H 4QFX 4QFY 4QFZ 4QG0 4QG1 4QG2 4QG4 4RXO 4RXP 4RXQ 4RXR 4RXS 4TNP 4TNQ 4TNR 4TNX 4TNY 4TNZ 4TO0 4TO1 4TO2 4TO3 4TO4 4TO5 4TO6 4ZWE 4ZWG 5AO0 5AO1 5AO2 5AO3 5AO4 6CM2 6DW3 6DW4 6DW5 6DW7 6DWD 6DWJ 6DWK 6TX0 6TXA 6TXC 6TXE 6TXF 6U6X 6U6Y 6U6Z 6XU1 6YOM 7A5Y 7LTT 7LU5 7S2Y 7UJN 8D94 8D9J 8GB1 8GB2 8QXJ 8QXK 8QXL 8QXM 8QXN 8QXO 8TDV 8TDW 9EC2	4CAH 4CAI 4IHB 4IQH 7JOF 7K6B 7KRB 9B8K 9B8L
GO Terms Enriched among Interactors		Regulation Of Innate Immune Response IkappaB Kinase Activity Post-translational Protein Modification Regulation Of Cellular Component Organization Innate Immune Response CD40 Receptor Complex Regulation Of DNA-binding Transcription Factor Activity Transferrin Receptor Binding Innate Immune Response Activating Cell Surface Receptor Signaling Pathway Activation Of Innate Immune Response IkappaB Kinase Complex Canonical NF-kappaB Signal Transduction Protein Modification By Small Protein Conjugation SCF Ubiquitin Ligase Complex Regulation Of Intracellular Signal Transduction Defense Response To Symbiont Positive Regulation Of Defense Response Defense Response To Other Organism Negative Regulation Of Oxidative Stress-induced Neuron Intrinsic Apoptotic Signaling Pathway Regulation Of Immune System Process MyD88-dependent Toll-like Receptor Signaling Pathway Regulation Of Defense Response Regulation Of RNA Metabolic Process Cellular Response To Oxygen-containing Compound Positive Regulation Of Catabolic Process Regulation Of Circadian Rhythm Regulation Of Oxidative Stress-induced Neuron Intrinsic Apoptotic Signaling Pathway Positive Regulation Of Innate Immune Response Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Immune Response Immune System Process Regulation Of Type I Interferon Production Protein Ubiquitination Protein Heterodimerization Activity Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Positive Regulation Of Immune System Process Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Non-canonical NF-kappaB Signal Transduction Regulation Of Protein Catabolic Process Regulation Of Cell Cycle Response To Copper Ion Regulation Of Proteolysis Negative Regulation Of Oxidative Stress-induced Intrinsic Apoptotic Signaling Pathway Positive Regulation Of Metabolic Process Protein-containing Complex Positive Regulation Of Norepinephrine Uptake Cellular Response To Cytochalasin B Amyloid-beta Complex Immune Response	Sarcomere Organization Myosin Filament M Band Actin Cytoskeleton Organization Actomyosin Structure Organization Muscle Organ Development Actin Filament-based Process Muscle Structure Development Structural Constituent Of Muscle Cellular Response To Salt Stress Titin Binding Myofibril Sarcolemma Cytoskeleton Organization Response To Salt Stress Extraocular Skeletal Muscle Development Organelle Organization Positive Regulation Of Transport Vesicle Membrane Kinase Binding Phospholipase A2 Inhibitor Activity Phospholipase Inhibitor Activity Cellular Response To Osmotic Stress Z Disc Phosphatidylserine Binding Membrane Raft Assembly Cytoplasmic Side Of Lysosomal Membrane Positive Regulation Of Endocytosis Response To Osmotic Stress Anterograde Synaptic Vesicle Transport Cadherin Binding Involved In Cell-cell Adhesion Translation Elongation Factor Activity Positive Regulation Of Vesicle Fusion Skeletal Muscle Organ Development Regulation Of Protein Localization Retrograde Axonal Transport