SMC1A and BLM

Data Source:
HPRD (in vivo)

		SMC1A	BLM
Description		structural maintenance of chromosomes 1A	BLM RecQ like helicase
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GO Annotations	Cellular Component	Chromosome, Centromeric Region Kinetochore Condensed Chromosome Kinetochore Condensed Nuclear Chromosome Nucleus Nucleoplasm Chromosome Cytosol Cohesin Complex Nuclear Matrix Meiotic Cohesin Complex Mitotic Spindle Pole	Nuclear Chromosome Chromosome, Telomeric Region Lateral Element Nucleus Nucleoplasm Replication Fork Chromosome Nucleolus Cytoplasm Cytosol Nuclear Matrix PML Body Protein-containing Complex
	Molecular Function	DNA Binding Chromatin Binding RNA Binding Protein Binding ATP Binding Mediator Complex Binding Protein Heterodimerization Activity	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	Mitotic Sister Chromatid Segregation DNA Repair Sister Chromatid Cohesion Mitotic Sister Chromatid Cohesion Response To Radiation Stem Cell Population Maintenance Cell Division Meiotic Cell Cycle Response To DNA Damage Checkpoint Signaling Mitotic Spindle Assembly	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		Meiotic synapsis Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion Cohesin Loading onto Chromatin Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins Estrogen-dependent gene expression	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
Diseases		Cornelia de Lange syndrome (CdLS)	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		Bipolar disorder ( 31043756) Mean corpuscular volume ( 32888494)	Coronary artery disease ( 32469254) Daytime sleep phenotypes ( 27126917)
Interacting Genes		20 interacting genes: AMOT ATM BLM BRCA1 ESR1 FGF14 MCM6 MCM7 MDC1 MET MSH2 MSH6 NDC80 NUMA1 POLA1 RAD21 RFC1 RPGR SMC3 SUMO2	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		8243	641
HPRD ID		02077	05211
Ensembl ID		ENSG00000072501	ENSG00000197299
Uniprot IDs		A0A384MR33 G8JLG1 Q14683 Q68EN4	B7ZKN7 H0YNU5 P54132
PDB IDs		6WG3 6WG4 6WG6 6WGE	2KV2 2MH9 2RRD 3WE2 3WE3 4CDG 4CGZ 4O3M 5LUP 5MK5 5U6K
Enriched GO Terms of Interacting Partners?
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