MDC1 and SMC1A

Number of citations: 0 (PubMedID 12607005)
Data Source: HPRD (in vivo)

		MDC1	SMC1A
Name		mediator of DNA damage checkpoint 1	structural maintenance of chromosomes 1A
Structure
GO Annotations	Cellular Component	Nucleus Nucleoplasm Chromosome Focal Adhesion Nuclear Body Site Of Double-strand Break	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	Protein Binding Chromatin-protein Adaptor Activity Histone Reader Activity	Nucleotide Binding DNA Binding Chromatin Binding RNA Binding Protein Binding ATP Binding ATP Hydrolysis Activity Mediator Complex Binding Protein Heterodimerization Activity
	Biological Process	DNA Replication Checkpoint Signaling DNA Repair Chromatin Organization DNA Damage Response Mitotic Intra-S DNA Damage Checkpoint Signaling Protein K6-linked Ubiquitination Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Protein Localization To Site Of Double-strand Break	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		SUMOylation of DNA damage response and repair proteins Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends TP53 Regulates Transcription of DNA Repair Genes G2/M DNA damage checkpoint	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		None	Cornelia de Lange syndrome (CdLS)
GWAS		Autism spectrum disorder or schizophrenia ( 28540026 ) Eosinophil count ( 31272903 )	Bipolar disorder ( 31043756 ) Mean corpuscular volume ( 32888494 )
Novel Interactors		None recorded	1 novel interactors: ALK
Interacting Genes		42 interacting genes: ANAPC1 ATM BARD1 BDKRB1 BRCA1 CASP3 CENPC CHEK2 COPS5 CREBBP CSNK2A1 DTX2 EP300 GATA4 H2AX HDAC10 HDAC8 HINFP NBN NCL NSD2 PIAS1 PIAS4 PRIM1 PTEN RAD50 RAD51 RNF8 SMC1A SRPK2 SUMO2 TNKS2 TP53 TP53BP1 UIMC1 USP13 USP15 USP28 USP7 VAMP5 WRN ZNF251	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		9656	8243
HPRD ID		16252	02077
Ensembl ID		ENSG00000137337	ENSG00000072501
Uniprot IDs		A0A1U9XBC1 A0A1U9XBE3 A0A1U9XBF2 A1Z5I9 Q14676	A0A384MR33 G8JLG1 Q14683 Q68EN4
PDB IDs		2ADO 2AZM 2ETX 3K05 3UEO 3UMZ 3UN0 3UNM 3UNN 3UOT 9IF9	6WG3 6WG4 6WG6 6WGE 7W1M 8P0A 8PQ5 8RO6 8RO7 8RO8 8RO9 8ROA 8ROB 8ROC 8ROD 8ROE 8ROF 8ROG
GO Terms Enriched among Interactors		DNA Repair DNA Damage Response DNA Metabolic Process Double-strand Break Repair Regulation Of Cellular Response To Stress Nucleoplasm Regulation Of DNA Metabolic Process Regulation Of DNA Repair Response To Ionizing Radiation Response To Radiation Negative Regulation Of Cell Cycle Phase Transition Cellular Response To Stress DNA Damage Checkpoint Signaling Post-translational Protein Modification Signal Transduction In Response To DNA Damage Negative Regulation Of Cell Cycle Process Negative Regulation Of Cell Cycle Positive Regulation Of DNA Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Chromosome DNA Recombination Nucleic Acid Metabolic Process Regulation Of DNA Recombination Nucleus Regulation Of Double-strand Break Repair Regulation Of Cell Cycle Phase Transition Chromatin Remodeling PML Body Macromolecule Metabolic Process Protein Modification Process Chromatin Organization Cellular Response To Radiation Regulation Of Double-strand Break Repair Via Homologous Recombination DNA Strand Resection Involved In Replication Fork Processing Positive Regulation Of Macromolecule Metabolic Process Response To Stress Double-strand Break Repair Via Homologous Recombination Positive Regulation Of Metabolic Process Regulation Of Cell Cycle Positive Regulation Of DNA Repair Recombinational Repair Positive Regulation Of Nucleobase-containing Compound Metabolic Process Site Of Double-strand Break Regulation Of Primary Metabolic Process Homologous Recombination Ubiquitin-modified Histone Reader Activity Nucleobase-containing Compound Metabolic Process Regulation Of Cell Cycle Process Cellular Response To Ionizing Radiation Positive Regulation Of DNA Recombination	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