BLM and SMC1A

Number of citations: 41 (PubMedID 11877377)
Data Source: HPRD (in vivo)

		BLM	SMC1A
Name		BLM RecQ like helicase	structural maintenance of chromosomes 1A
Structure
GO Annotations	Cellular Component	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	Chromosome, Centromeric Region Kinetochore Condensed Nuclear Chromosome Nucleus Nucleoplasm Chromosome Cytosol Cohesin Complex Nuclear Matrix Mitotic Cohesin Complex Meiotic Cohesin Complex Mitotic Spindle Pole
	Molecular Function	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	Nucleotide Binding DNA Binding Chromatin Binding RNA Binding Protein Binding ATP Binding ATP Hydrolysis Activity Mediator Complex Binding Protein Heterodimerization Activity
	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 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	Mitotic Sister Chromatid Segregation DNA Repair DNA Damage Response Sister Chromatid Cohesion Mitotic Sister Chromatid Cohesion Response To Radiation Establishment Of Mitotic Sister Chromatid Cohesion Establishment Of Meiotic Sister Chromatid Cohesion Somatic Stem Cell Population Maintenance Chromosome Organization Cell Division Meiotic Cell Cycle Response To DNA Damage Checkpoint Signaling Mitotic Spindle Assembly
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 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	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
Diseases		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	Cornelia de Lange syndrome (CdLS)
GWAS		Coronary artery disease ( 32469254 ) Daytime sleep phenotypes ( 27126917 )	Bipolar disorder ( 31043756 ) Mean corpuscular volume ( 32888494 )
Novel Interactors		2 novel interactors: ACAN FES	1 novel interactors: ALK
Interacting Genes		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	22 interacting genes: AMOT ATM BLM BRCA1 CEBPA ESR1 FGF14 ITSN1 MCM6 MCM7 MDC1 MET MSH2 MSH6 NDC80 NUMA1 POLA1 RAD21 RFC1 RPGR SMC3 SUMO2
Entrez ID		641	8243
HPRD ID		05211	02077
Ensembl ID		ENSG00000197299	ENSG00000072501
Uniprot IDs		B7ZKN7 H0YNU5 P54132	A0A384MR33 G8JLG1 Q14683 Q68EN4
PDB IDs		2KV2 2MH9 2RRD 3WE2 3WE3 4CDG 4CGZ 4O3M 5LUP 5MK5 5U6K 7AUC 7AUD 7XUW 7XV0	6WG3 6WG4 6WG6 6WGE 7W1M 8P0A 8PQ5 8RO6 8RO7 8RO8 8RO9 8ROA 8ROB 8ROC 8ROD 8ROE 8ROF 8ROG
GO Terms Enriched among Interactors		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	Chromosome DNA Repair DNA Metabolic Process DNA Damage Response Double-strand Break Repair DNA Recombination Regulation Of DNA Metabolic Process Negative Regulation Of Mitotic Cell Cycle Chromosome Organization Negative Regulation Of Cell Cycle Negative Regulation Of Cell Cycle Phase Transition Cellular Response To Stress Nuclear Matrix Double-strand Break Repair Via Homologous Recombination Nucleic Acid Metabolic Process Recombinational Repair Mitotic DNA Damage Checkpoint Signaling Mitotic DNA Integrity Checkpoint Signaling Negative Regulation Of Cell Cycle Process Regulation Of Nucleobase-containing Compound Metabolic Process DNA Damage Checkpoint Signaling Single-stranded DNA Binding Nucleoplasm Nucleobase-containing Compound Metabolic Process Negative Regulation Of DNA Recombination Intracellular Signal Transduction Lateral Element Regulation Of DNA Recombination Regulation Of Cell Cycle Phase Transition DNA Replication Four-way Junction DNA Binding Signal Transduction In Response To DNA Damage Single Thymine Insertion Binding MutSalpha Complex Chromatin Binding Negative Regulation Of G2/M Transition Of Mitotic Cell Cycle Negative Regulation Of Mitotic Cell Cycle Phase Transition Negative Regulation Of Cell Cycle G2/M Phase Transition Regulation Of Chromosome Separation Regulation Of Mitotic Cell Cycle Regulation Of Cell Cycle Process Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Chromosome, Telomeric Region Regulation Of Metabolic Process DNA Binding Nucleotide Binding Regulation Of Cell Cycle ATP Binding Single Guanine Insertion Binding Establishment Of Meiotic Sister Chromatid Cohesion