Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54708
Gene name	Membrane associated ring-CH-type finger 5
Gene symbol	MARCHF5
Synonyms (NCBI Gene)	MARCH-VMARCH5MITOLRNF153
Chromosome	10
Chromosome location	10q23.32-q23.33
Summary	MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	16936636
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	16125763, 19576794, 29441066
GO:0005515	Function	Protein binding	IPI	16874301, 16936636, 19549727, 25416956, 28514442, 31515488, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IDA	16874301, 17606867
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	14722266
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	14722266
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0039532	Process	Negative regulation of cytoplasmic pattern recognition receptor signaling pathway	IDA	31881323
GO:0044314	Process	Protein K27-linked ubiquitination	IDA	37575012
GO:0044546	Process	NLRP3 inflammasome complex assembly	IDA	17483456
GO:0046872	Function	Metal ion binding	IEA
GO:0051020	Function	GTPase binding	IPI	16936636
GO:0051865	Process	Protein autoubiquitination	IDA	16874301
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	16936636, 37916870
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	16874301
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	37916870
GO:0070585	Process	Protein localization to mitochondrion	IMP	17606867
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	31881323
GO:0090140	Process	Regulation of mitochondrial fission	IBA
GO:0090140	Process	Regulation of mitochondrial fission	IMP	16874301, 17606867
GO:0090141	Process	Positive regulation of mitochondrial fission	IMP	20103533
GO:0140896	Process	CGAS/STING signaling pathway	IDA	25636800
GO:0140896	Process	CGAS/STING signaling pathway	TAS	37403426
GO:0141111	Process	Positive regulation of cGAS/STING signaling pathway	IDA	37916870
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IDA	31189953
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IDA	37575012

MIM	HGNC	e!Ensembl
610637	26025	ENSG00000198060

Q9NX47

Protein name

E3 ubiquitin-protein ligase MARCHF5 (EC 2.3.2.27) (Membrane-associated RING finger protein 5) (Membrane-associated RING-CH protein V) (MARCH-V) (Mitochondrial ubiquitin ligase) (MITOL) (RING finger protein 153) (RING-type E3 ubiquitin transferase MARCHF5)

Protein function

Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission and as an important regulator of immune response (PubMed:16874301, PubMed:1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12906	RINGv	14 → 68	RING-variant domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, heart, liver, lung, spleen, stomach, testis, skeletal and muscle. {ECO:0000269|PubMed:16874301}.

Sequence

MPDQALQQMLDRSCWVCFATDEDDRTAEWVRPCRCRGSTKWVHQACLQRWVDEKQRGNST
ARVACPQCNAEYLIVFPKLGPVVYVLDLADRLISKACPFAAAGIMVGSIYWTAVTYGAVT
VMQVVGHKEGLDVMERADPLFLLIGLPTIPVMLILGKMIRWEDYVLRLWRKYSNKLQILN
SIFPGIGCPVPRIPAEANPLADHVSATRILCGALVFPTIATIVGKLMFSSVNSNLQRTIL
GGIAFVAIKGAFKVYFKQQQYLRQAHRKILNYPEQEEA

Sequence length

278

Interactions

View interactions

	KEGG
	Mitophagy - animal

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	24990700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30636894		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27875077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28551795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30403710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30921184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30921184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31819032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30636894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30921184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27875077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24014103, 30921184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	22308378	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30636894		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27875077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27942720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	26813789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MARCHF5 (membrane associated ring-CH-type finger 5)