ACAN and BLM

Data Source:
BioGRID (affinity chromatography technology)

		ACAN	BLM
Description		aggrecan	BLM RecQ like helicase
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GO Annotations	Cellular Component	Extracellular Region Golgi Lumen Extracellular Matrix Lysosomal Lumen Collagen-containing Extracellular Matrix	Nuclear Chromosome Chromosome, Telomeric Region Lateral Element Nucleus Nucleoplasm Replication Fork Chromosome Nucleolus Cytoplasm Cytosol Nuclear Matrix PML Body Protein-containing Complex
	Molecular Function	Extracellular Matrix Structural Constituent Protein Binding Hyaluronic Acid Binding Extracellular Matrix Structural Constituent Conferring Compression Resistance Carbohydrate Binding Metal Ion Binding	Four-way Junction DNA Binding Y-form DNA Binding Bubble DNA Binding P53 Binding DNA Binding DNA Helicase Activity Single-stranded DNA Binding Helicase Activity Protein Binding ATP Binding DNA-dependent ATPase Activity Zinc Ion Binding Four-way Junction Helicase Activity ATPase Activity Annealing Helicase Activity Identical Protein Binding Protein Homodimerization Activity 3'-5' DNA Helicase Activity G-quadruplex DNA Binding Forked DNA-dependent Helicase Activity Telomeric D-loop Binding Telomeric G-quadruplex DNA Binding 8-hydroxy-2'-deoxyguanosine DNA Binding
	Biological Process	Skeletal System Development Proteolysis Cell Adhesion Central Nervous System Development Keratan Sulfate Biosynthetic Process Extracellular Matrix Organization Keratan Sulfate Catabolic Process	Regulation Of Cyclin-dependent Protein Serine/threonine Kinase Activity Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Double-strand Break Processing DNA Strand Renaturation DNA Replication DNA Unwinding Involved In DNA Replication DNA Repair DNA Recombination Cellular Response To DNA Damage Stimulus Mitotic G2 DNA Damage Checkpoint Response To X-ray Replication Fork Processing DNA Duplex Unwinding G-quadruplex DNA Unwinding Positive Regulation Of Transcription, DNA-templated Negative Regulation Of DNA Recombination Replication Fork Protection Protein Complex Oligomerization Protein Homooligomerization Negative Regulation Of Cell Division Telomeric D-loop Disassembly Cellular Response To Ionizing Radiation Cellular Response To Hydroxyurea Cellular Response To Camptothecin Regulation Of DNA-dependent DNA Replication T-circle Formation Regulation Of Signal Transduction By P53 Class Mediator
Pathways		Degradation of the extracellular matrix Degradation of the extracellular matrix Keratan sulfate biosynthesis Keratan sulfate degradation ECM proteoglycans Defective CHST6 causes MCDC1 Defective ST3GAL3 causes MCT12 and EIEE15 Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)	Processive synthesis on the C-strand of the telomere SUMOylation of DNA damage response and repair proteins HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Meiotic recombination
Drugs		Ilomastat
Diseases		Spondyloepiphyseal dysplasia, Kimberley type Familial osteochondritis dissecans; Osteochondritis dissecans, short stature, and early-onset osteoarthritis	DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome
GWAS		Age-related hearing impairment ( 27764096) Appendicular lean mass ( 33097823) Body fat distribution (arm fat ratio) ( 30664634) Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Body size at age 10 ( 32376654) Dupuytren's disease ( 28886342) Height ( 21998595 28552196 20881960 25282103 25133637 25429064 23563607 31562340 28270201 18391952) Hip circumference adjusted for BMI ( 25673412) Infant length ( 25281659) Waist circumference adjusted for BMI (adjusted for smoking behaviour) ( 28443625) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500) Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) ( 28443625) Waist circumference adjusted for BMI in active individuals ( 28448500) Waist circumference adjusted for BMI in non-smokers ( 28443625) Waist circumference adjusted for body mass index ( 25673412 28448500)	Coronary artery disease ( 32469254) Daytime sleep phenotypes ( 27126917)
Interacting Genes		18 interacting genes: ADAMTS1 ADAMTS4 ADAMTS5 CTSB FBLN1 FBLN2 HAPLN1 LUM MMP1 MMP14 MMP19 MMP2 MMP20 MMP3 MMP8 PTPRF TNFAIP6 TNR	38 interacting genes: ATR ATRX BRIP1 CASP3 CHAF1A CHEK1 DNA2 EXO1 FANCD2 FBXW7 FEN1 JUN MCRS1 MIB1 MLH1 MX1 NEK11 PSMD3 RAD51 RAD51D RNF8 RPA1 SMC1A SPIDR SUMO1 SUMO2 SUMO3 SYN1 TERF1 TERF2 TOP3A TOPBP1 TP53 TP53BP1 TRIM49 UBE2I UPF2 WRN
Entrez ID		176	641
HPRD ID		01123	05211
Ensembl ID		ENSG00000157766	ENSG00000197299
Uniprot IDs		P16112	B7ZKN7 H0YNU5 P54132
PDB IDs		4MD4	2KV2 2MH9 2RRD 3WE2 3WE3 4CDG 4CGZ 4O3M 5LUP 5MK5 5U6K
Enriched GO Terms of Interacting Partners?
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