MARCHF5 and RECQL4

Number of citations: 47 (PubMedID 37495109)
Data Source: BioGRID (enzymatic study)

		MARCHF5	RECQL4
Name		membrane associated ring-CH-type finger 5	RecQ like helicase 4
Structure		No pdb structure
GO Annotations	Cellular Component	Mitochondrion Mitochondrial Outer Membrane Peroxisome Peroxisomal Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Membrane	Chromosome, Telomeric Region Nucleus Nucleoplasm Chromosome Cytoplasm Membrane
	Molecular Function	Protein Binding Zinc Ion Binding Transferase Activity Metal Ion Binding GTPase Binding Ubiquitin Protein Ligase Activity	Nucleotide Binding Bubble DNA Binding Nucleic Acid Binding DNA Binding Helicase Activity Protein Binding ATP Binding Four-way Junction Helicase Activity Hydrolase Activity Isomerase Activity ATP Hydrolysis Activity Oxidized Purine DNA Binding 3'-5' DNA Helicase Activity Metal Ion Binding Telomeric D-loop Binding Catalytic Activity, Acting On DNA DNA/DNA Annealing Activity
	Biological Process	Protein Polyubiquitination Cytoplasmic Pattern Recognition Receptor Signaling Pathway Protein Ubiquitination Negative Regulation Of Cytoplasmic Pattern Recognition Receptor Signaling Pathway Protein K27-linked Ubiquitination NLRP3 Inflammasome Complex Assembly Protein Autoubiquitination Protein K63-linked Ubiquitination Protein Localization To Mitochondrion Protein K48-linked Ubiquitination Regulation Of Mitochondrial Fission Positive Regulation Of Mitochondrial Fission CGAS/STING Signaling Pathway Positive Regulation Of CGAS/STING Signaling Pathway Positive Regulation Of NLRP3 Inflammasome Complex Assembly	Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Replication DNA Repair DNA Recombination Chromosome Organization Telomeric D-loop Disassembly
Diseases		None	RAPADILINO syndrome Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome
GWAS		No GWAS studies recorded	Age at first birth ( 27798627 ) Educational attainment ( 25201988 ) General cognitive ability ( 29844566 )
Interacting Genes		43 interacting genes: AKTIP ANKS6 AQP6 BIK BNIP1 CGRRF1 CREB3 ERGIC3 FATE1 FIS1 FUNDC1 GPX8 HSD17B13 IMMT MANBAL MAP1B MFN2 ODF4 POLG POLG2 PTPN5 RECQL4 RTN4IP1 SAR1A SCD SGPL1 SOD1 STMN4 TANK TIMMDC1 TMEM139 TMEM14B UBE2D1 UBE2D2 UBE2D3 UBE2E1 UBE2E3 UBE2I UBE2N UBE2T UBE2W UTRN YIF1A	11 interacting genes: ACD EP300 MARCHF5 MCM10 POT1 PRSS23 RNF8 TERF1 TERF2IP TOMM20 WRAP53
Entrez ID		54708	9401
HPRD ID		07909	04805
Ensembl ID		ENSG00000198060	ENSG00000160957
Uniprot IDs		Q9NX47	A0A087X072 O94761
PDB IDs		Not available	2KMU 5LST
GO Terms Enriched among Interactors		Ubiquitin Conjugating Enzyme Activity Protein Monoubiquitination Protein Polyubiquitination Ubiquitin-protein Transferase Activity Protein K48-linked Ubiquitination Protein K11-linked Ubiquitination Protein Modification By Small Protein Conjugation Mitochondrial Outer Membrane Cellular Response To Stress Gamma DNA Polymerase Complex Protein Ubiquitination Response To Nutrient Levels Negative Regulation Of TORC1 Signaling Protein Binding Post-translational Protein Modification Protein K63-linked Ubiquitination Mitochondrion Organization Negative Regulation Of TOR Signaling Regulation Of TORC1 Signaling Ubiquitin Protein Ligase Binding Nucleotide Binding DNA Repair Apoptotic Process Mitochondrial DNA Replication Mitochondrion Cell Death Programmed Cell Death DNA Metabolic Process Ubiquitin-dependent Protein Catabolic Process Modification-dependent Protein Catabolic Process Protein-containing Complex Regulation Of TOR Signaling TORC1 Signaling DNA Damage Response Protein Autoubiquitination Endoplasmic Reticulum Membrane Endoplasmic Reticulum Response To Stress Mitochondrial DNA Metabolic Process Positive Regulation Of Protein Polyubiquitination Mitochondrial Fusion Ubiquitin-like Protein Transferase Activity Mitochondrial Membrane TOR Signaling DNA-directed DNA Polymerase Activity Proteolysis Involved In Protein Catabolic Process Mitochondrial Calcium Ion Homeostasis Protein Modification Process ATP Binding Protein K6-linked Ubiquitination	Telomere Maintenance Via Telomerase Shelterin Complex RNA-templated DNA Biosynthetic Process Telomere Maintenance Via Telomere Lengthening Nuclear Telomere Cap Complex Telomere Capping Positive Regulation Of Telomere Maintenance Chromosome, Telomeric Region Telomere Assembly DNA Biosynthetic Process Telomeric DNA Binding Telomere Maintenance Regulation Of Establishment Of Protein Localization To Telomere Positive Regulation Of Chromosome Organization Regulation Of Telomere Maintenance Regulation Of Establishment Of Protein Localization To Chromosome Negative Regulation Of Telomere Maintenance Positive Regulation Of DNA Metabolic Process Telomere Organization Regulation Of Telomere Maintenance Via Telomerase G-rich Strand Telomeric DNA Binding Regulation Of Telomere Maintenance Via Telomere Lengthening Protein Localization To Organelle Chromosome DNA Metabolic Process Negative Regulation Of Chromosome Organization Regulation Of DNA Biosynthetic Process Negative Regulation Of Telomere Maintenance Via Telomerase Regulation Of Chromosome Organization Regulation Of DNA Metabolic Process Positive Regulation Of Organelle Organization Protein Localization To Chromosome Negative Regulation Of Telomere Maintenance Via Telomere Lengthening Negative Regulation Of DNA Biosynthetic Process Negative Regulation Of DNA Metabolic Process Chromosome Organization Regulation Of Double-strand Break Repair Positive Regulation Of Cellular Component Organization Regulation Of Organelle Organization DNA Damage Response Telomerase Inhibitor Activity Establishment Of Protein Localization To Telomere Protection From Non-homologous End Joining At Telomere Positive Regulation Of Nucleobase-containing Compound Metabolic Process Nucleic Acid Metabolic Process Nucleobase-containing Compound Biosynthetic Process Regulation Of DNA Repair Telomeric D-loop Disassembly Regulation Of Cellular Response To Stress Negative Regulation Of Nucleobase-containing Compound Metabolic Process