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	10299
Gene name	Membrane associated ring-CH-type finger 6
Gene symbol	MARCHF6
Synonyms (NCBI Gene)	DOA10FAME3FCMTE3MARCH-VIMARCH6RNF176TEB4
Chromosome	5
Chromosome location	5p15.2
Summary	This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alter

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000835	Component	ER ubiquitin ligase complex	IC	15673284
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	15673284
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	19651899
GO:0005515	Function	Protein binding	IPI	25766235, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	15673284
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006695	Process	Cholesterol biosynthetic process	IC	30626872
GO:0008270	Function	Zinc ion binding	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IDA	15673284
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	16373356
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IDA	24449766
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	19651899
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IPI	15673284
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	TAS	25088257
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	24449766
GO:0044322	Component	Endoplasmic reticulum quality control compartment	IEA
GO:0045541	Process	Negative regulation of cholesterol biosynthetic process	IDA	32755570
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	24449766
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	TAS	16373356, 25088257
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	15673284
GO:1904380	Process	Endoplasmic reticulum mannose trimming	TAS
GO:1990381	Function	Ubiquitin-specific protease binding	IPI	25088257

MIM	HGNC	e!Ensembl
613297	30550	ENSG00000145495

O60337

Protein name

E3 ubiquitin-protein ligase MARCHF6 (EC 2.3.2.27) (Doa10 homolog) (Membrane-associated RING finger protein 6) (Membrane-associated RING-CH protein VI) (MARCH-VI) (Protein TEB-4) (RING finger protein 176) (RING-type E3 ubiquitin transferase MARCHF6)

Protein function

Endoplasmic reticulum membrane-associated E3 ubiquitin ligase that plays a critical role in mitigating endoplasmic reticulum stress, the regulation of cholesterol and lipid homeostasis, and ferroptosis (PubMed:25088257, PubMed:35941365, PubMed:3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12906	RINGv	9 → 55	RING-variant domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Present in brain (at protein level). {ECO:0000269|PubMed:15673284}.

Sequence

MDTAEEDICRVCRSEGTPEKPLYHPCVCTGSIKFIHQECLVQWLKHSRKEYCELCKHRFA
FTPIYSPDMPSRLPIQDIFAGLVTSIGTAIRYWFHYTLVAFAWLGVVPLTACRIYKCLFT
GSVSSLLTLPLDMLSTENLLADCLQGCFVVTCTLCAFISLVWLREQIVHGGAPIWLEHAA
PPFNAAGHHQNEAPAGGNGAENVAADQPANPPAENAVVGENPDAQDDQAEEEEEDNEEED
DAGVEDAADANNGAQDDMNWNALEWDRAAEELTWERMLGLDGSLVFLEHVFWVVSLNTLF
ILVFAFCPYHIGHFSLVGLGFEEHVQASHFEGLITTIVGYILLAITLIICHGLATLVKFH
RSRRLLGVCYIVVKVSLLVVVEIGVFPLICGWWLDICSLEMFDATLKDRELSFQSAPGTT
MFLHWLVGMVYVFYFASFILLLREVLRPGVLWFLRNLNDPDFNPVQEMIHLPIYRHLRRF
ILSVIVFGSIVLLMLWLPIRIIKSVLPNFLPYNVMLYSDAPVSELSLELLLLQVVLPALL
EQGHTRQWLKGLVRAWTVTAGYLLDLHSYLLGDQEENENSANQQVNNNQHARNNNAIPVV
GEGLHAAHQAILQQGGPVGFQPYRRPLNFPLRIFLLIVFMCITLLIASLICLTLPVFAGR
WLMSFWTGTAKIHELYTAACGLYVCWLTIRAVTVMVAWMPQGRRVIFQKVKEWSLMIMKT
LIVAVLLAGVVPLLLGLLFELVIVAPLRVPLDQTPLFYPWQDWALGVLHAKIIAAITLMG
PQWWLKTVIEQVYANGIRNIDLHYIVRKLAAPVISVLLLSLCVPYVIASGVVPLLGVTAE
MQNLVHRRIYPFLLMVVVLMAILSFQVRQFKRLYEHIKNDKYLVGQRLVNYERKSGKQGS
SPPPPQSSQE

Sequence length

910

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		ER Quality Control Compartment (ERQC)

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 (8)

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.
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, familial adult myoclonic, 3	Uncertain significance	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL ADULT MYOCLONIC EPILEPSY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARCHF6-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Benign adult familial myoclonic epilepsy	Benign Myoclonic Epilepsy	Orphanet		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Diseases	Kidney Disease	BEFREE	28720208	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28279384	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17452583, 20548044	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3	Myoclonic Epilepsy	CTD_human_DG		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Heart failure	Heart Failure	BEFREE	28279384	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	31464740	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31422115	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23821300	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	31664039	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31422115	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30838870	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30572373	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23821300	★★★★★ ★☆☆☆☆ Found in Text Mining only

MARCHF6 (membrane associated ring-CH-type finger 6)