BLM and ACAN

		BLM	ACAN
Description		BLM RecQ like helicase	aggrecan
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GO Annotations	Cellular Component	Nuclear Chromosome Chromosome, Telomeric Region Lateral Element Nucleus Nucleoplasm Replication Fork Chromosome Nucleolus Cytoplasm Cytosol Nuclear Matrix PML Body Protein-containing Complex	Extracellular Region Golgi Lumen Extracellular Matrix Lysosomal Lumen Collagen-containing Extracellular Matrix
	Molecular Function	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 ATP-dependent Activity, Acting On DNA Zinc Ion Binding Four-way Junction Helicase Activity ATP Hydrolysis 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 DNA/DNA Annealing Activity	Extracellular Matrix Structural Constituent Protein Binding Hyaluronic Acid Binding Extracellular Matrix Structural Constituent Conferring Compression Resistance Carbohydrate Binding Metal Ion Binding
	Biological 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 Replication DNA Unwinding Involved In DNA Replication DNA Repair DNA Recombination Cellular Response To DNA Damage Stimulus Mitotic G2 DNA Damage Checkpoint Signaling Response To X-ray Replication Fork Processing Telomere Maintenance Via Semi-conservative Replication 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	Skeletal System Development Proteolysis Cell Adhesion Central Nervous System Development
Pathways		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 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function	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)
Drugs			Ilomastat
Diseases
GWAS		Coronary artery disease ( 32469254) Daytime sleep phenotypes ( 27126917)	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 33713608) Hip circumference adjusted for BMI ( 34021172 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 ( 34021172 25673412 28448500)
Interacting Genes		40 interacting genes: ACAN ATR ATRX BRIP1 CASP3 CHAF1A CHEK1 DNA2 EXO1 FANCD2 FBXW7 FEN1 FES 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	23 interacting genes: ADAMTS1 ADAMTS4 ADAMTS5 BLM CTSB FBLN1 FBLN2 HAPLN1 IDH2 LUM MAN2A2 MMP1 MMP14 MMP19 MMP2 MMP20 MMP3 MMP8 PTPRF SLCO3A1 STARD5 TNFAIP6 TNR
Entrez ID		641	176
HPRD ID		05211	01123
Ensembl ID		ENSG00000197299	ENSG00000157766
Uniprot IDs		B7ZKN7 H0YNU5 P54132	A0A5K1VW97 P16112
PDB IDs		2KV2 2MH9 2RRD 3WE2 3WE3 4CDG 4CGZ 4O3M 5LUP 5MK5 5U6K 7AUC 7AUD	4MD4
Enriched GO Terms of Interacting Partners?
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