ACAN and BLM

Data Source: HiPPIP (Novel)

		ACAN	BLM
Name		aggrecan	BLM RecQ like helicase
Structure
GO Annotations	Cellular Component	Extracellular Region Extracellular Space Golgi Lumen Extracellular Matrix Lysosomal Lumen Synapse Perineuronal Net	Nuclear Chromosome Chromosome, Telomeric Region Lateral Element Nucleus Nucleoplasm Replication Fork Chromosome Nucleolus Cytoplasm Cytosol Nuclear Matrix PML Body RecQ Family Helicase-topoisomerase III Complex 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	Nucleotide Binding Four-way Junction DNA Binding Y-form DNA Binding Bubble DNA Binding P53 Binding Nucleic Acid 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 Hydrolase Activity Hydrolase Activity, Acting On Acid Anhydrides, In Phosphorus-containing Anhydrides Isomerase Activity ATP Hydrolysis Activity Identical Protein Binding Protein Homodimerization Activity 3'-5' DNA Helicase Activity Metal Ion Binding 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
	Biological Process	Skeletal System Development Proteolysis Cell Adhesion Central Nervous System Development	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 Repair DNA Recombination DNA Damage Response Mitotic G2 DNA Damage Checkpoint Signaling Response To X-ray Replication Fork Processing Telomere Maintenance Via Semi-conservative Replication DNA Geometric Change Positive Regulation Of DNA-templated Transcription Negative Regulation Of DNA Recombination Protein Complex Oligomerization Protein Homooligomerization Negative Regulation Of Cell Division Telomeric D-loop Disassembly Resolution Of DNA Recombination Intermediates Cellular Response To Ionizing Radiation Cellular Response To Hydroxyurea Cellular Response To Camptothecin T-circle Formation
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 Defective homologous recombination repair (HRR) due to BRCA1 loss of function 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 Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2
Drugs		Ilomastat	None
Diseases		Familial osteochondritis dissecans; Osteochondritis dissecans, short stature, and early-onset osteoarthritis Spondyloepiphyseal dysplasia, Kimberley type	Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome 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
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 ( 20881960 31562340 28552196 33713608 18391952 28270201 25429064 25282103 25133637 23563607 21998595 ) 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 ( 28448500 25673412 34021172 )	Coronary artery disease ( 32469254 ) Daytime sleep phenotypes ( 27126917 )
Novel Interactors		5 novel interactors: BLM IDH2 MAN2A2 SLCO3A1 STARD5	2 novel interactors: ACAN FES
Interacting Genes		18 interacting genes: ADAMTS1 ADAMTS4 ADAMTS5 CTSB FBLN1 FBLN2 HAPLN1 LUM MMP1 MMP14 MMP19 MMP2 MMP20 MMP3 MMP8 PTPRF TNFAIP6 TNR	39 interacting genes: ATR ATRX BRIP1 CASP3 CHAF1A CHEK1 DNA2 EXO1 FANCD2 FBXW7 FEN1 JUN MCRS1 MIB1 MLH1 MX1 NEK11 PSMD3 RAD51 RAD51D RNF4 RNF8 RPA1 SMC1A SPIDR SUMO1 SUMO2 SUMO3 SYN1 TERF1 TERF2 TOP3A TP53 TP53BP1 TRIM49 UBE2I UPF2 USP37 WRN
Entrez ID		176	641
HPRD ID		01123	05211
Ensembl ID		ENSG00000157766	ENSG00000197299
Uniprot IDs		A0A5K1VW97 P16112	B7ZKN7 H0YNU5 P54132
PDB IDs		4MD4 7RDV	2KV2 2MH9 2RRD 3WE2 3WE3 4CDG 4CGZ 4O3M 5LUP 5MK5 5U6K 7AUC 7AUD 7XUW 7XV0
GO Terms Enriched among Interactors		Extracellular Matrix Extracellular Matrix Organization Extracellular Structure Organization Extracellular Matrix Disassembly Metalloendopeptidase Activity Collagen Catabolic Process Metallopeptidase Activity Collagen Metabolic Process Endopeptidase Activity Peptidase Activity Hydrolase Activity Extracellular Region Extracellular Space Serine-type Endopeptidase Activity Proteolysis Cellular Response To UV-A Ovulation From Ovarian Follicle Ovulation Cycle Process Response To UV-A Ovulation Protein Metabolic Process Fibronectin Binding Zinc Ion Binding Endodermal Cell Differentiation Regulation Of Cell Migration Ovarian Follicle Development Regulation Of Cell Motility Metal Ion Binding Macromolecule Metabolic Process Regulation Of Locomotion Cellular Response To Radiation Perineuronal Net Extracellular Matrix Structural Constituent Conferring Compression Resistance Cellular Response To UV Rhythmic Process Cellular Response To Light Stimulus Hyaluronic Acid Binding Extracellular Matrix Structural Constituent Catabolic Process Anatomical Structure Formation Involved In Morphogenesis Neuron Projection Regeneration Regulation Of Axon Regeneration Negative Regulation Of Multicellular Organismal Process Regulation Of Multicellular Organismal Process Negative Regulation Of Cell Adhesion Regulation Of Neuron Projection Regeneration Extracellular Matrix Binding Positive Regulation Of Cell Migration Positive Regulation Of Cell Motility Positive Regulation Of Locomotion	DNA Damage Response DNA Repair DNA Metabolic Process Chromosome Organization Cellular Response To Stress Double-strand Break Repair Macromolecule Metabolic Process Chromosome, Telomeric Region PML Body Nucleic Acid Metabolic Process Nucleoplasm Response To Stress Telomere Maintenance Regulation Of DNA Metabolic Process DNA Recombination Telomere Organization Regulation Of Cell Cycle Chromosome Nucleobase-containing Compound Metabolic Process Negative Regulation Of Cell Cycle Nucleus Negative Regulation Of Cell Cycle Process Positive Regulation Of DNA Metabolic Process Response To Ionizing Radiation Regulation Of Cell Cycle Process Replication Fork Signal Transduction In Response To DNA Damage Response To Radiation Regulation Of DNA Replication Interstrand Cross-link Repair Nuclear Body Chromosome Organization Involved In Meiotic Cell Cycle DNA Damage Checkpoint Signaling Organelle Organization Nuclear Chromosome T-circle Formation Cellular Response To Ionizing Radiation Negative Regulation Of DNA Metabolic Process Double-strand Break Repair Via Homologous Recombination Replicative Senescence Regulation Of DNA Recombination Recombinational Repair Replication Fork Processing DNA Replication Negative Regulation Of Cell Cycle Phase Transition Regulation Of Cell Cycle Phase Transition Regulation Of DNA Repair Regulation Of Chromosome Organization Condensed Nuclear Chromosome Chromatin Binding