MARCHF6 - membrane associated ring-CH-type finger 6 Gene

Also Known as TEB4; DOA10; FAME3; MARCH6; RNF176; MARCH-VI

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 10299

About MARCHF6

Cytogenetic location: 5p15.2 Genomic coordinates (GRCh38): 5:10,353,695-10,440,388 (from NCBI)

This gene has 15 transcripts (splice variants), 261 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 18.9), bone marrow (RPKM 17.4) and 25 other tissues.

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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

MARCHF6 Products (3)

mRNA	Protein	Name
NM_001270660.2	NP_001257589.1	E3 ubiquitin-protein ligase MARCHF6 isoform 2
NM_001270661.2	NP_001257590.1	E3 ubiquitin-protein ligase MARCHF6 isoform 3
NM_005885.4	NP_005876.2	E3 ubiquitin-protein ligase MARCHF6 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables enzyme binding	IPI IPI: Inferred from physical interaction	19651899	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25766235	GOA
enables ubiquitin conjugating enzyme binding	IPI IPI: Inferred from physical interaction	15673284	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	24449766	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	15673284	GOA
enables ubiquitin-protein transferase activity	IMP IMP: Inferred from mutant phenotype	19651899	GOA
enables ubiquitin-specific protease binding	IPI IPI: Inferred from physical interaction	25088257	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in proteasomal protein catabolic process	IDA IDA: Inferred from direct assay	15673284	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	24449766	GOA
involved in protein K48-linked ubiquitination	IDA IDA: Inferred from direct assay	15673284	GOA
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	24449766	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15673284	GOA
located in membrane	IDA IDA: Inferred from direct assay	16373356	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MARCHF6 Protein Structure

RINGv

0
200
400
600
800
910 a.a.

Protein Preferred Names	Protein Names
E3 ubiquitin-protein ligase MARCHF6	E3 ubiquitin-protein ligase MARCH6

MARCHF6 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	MARCHF6	O60337	ADGRE2	Homo sapiens	Q9UHX3	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Epilepsy, Familial Adult Myoclonic, 3	FAME3 Fcmte3 Cortical Myoclonic Tremor With Epilepsy, Familial, 3 Familial Adult Myoclonic Epilepsy 3 Familial Cortical Myoclonic Tremor And Epilepsy 3 Epilepsy, Myoclonic, Familial Adult, Type 3
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Epilepsy, Familial Adult Myoclonic, 1	FAME1 Benign Adult Familial Myoclonic Epilepsy 1 Bafme1 Fcmte1 Cortical Myoclonic Tremor With Epilepsy, Familial, 1 Familial Adult Myoclonic Epilepsy 1 Familial Cortical Myoclonic Tremor And Epilepsy 1 Epilepsy, Myoclonic, Familial Adult, Type 1
Epilepsy, Familial Adult Myoclonic, 7	FAME7 Bafme7 Fcmte7 Benign Adult Familial Myoclonic Epilepsy 7 Cortical Myoclonic Tremor With Epilepsy, Familial, 7 Familial Adult Myoclonic Epilepsy 7 Familial Cortical Myoclonic Tremor And Epilepsy 7 Benign Adult Familial Myoclonic Epilepsy 27 Epilepsy, Myoclonic, Familial Adult, Type 7
Epilepsy, Familial Adult Myoclonic, 4	FAME4 Fcmte4 Cortical Myoclonic Tremor With Epilepsy, Familial, 4 Familial Adult Myoclonic Epilepsy 4 Epilepsy, Myoclonic, Familial Adult, 4 Familial Cortical Myoclonic Tremor And Epilepsy 4 Epilepsy, Myoclonic, Familial Adult, Type 4
Epilepsy, Familial Adult Myoclonic, 6	FAME6 Benign Adult Familial Myoclonic Epilepsy 6 Bafme6 Fcmte6 Cortical Myoclonic Tremor With Epilepsy, Familial, 6 Familial Adult Myoclonic Epilepsy 6 Familial Cortical Myoclonic Tremor And Epilepsy 6 Epilepsy, Myoclonic, Familial Adult, Type 6
Epilepsy, Familial Adult Myoclonic, 2	FAME2 Benign Adult Familial Myoclonic Epilepsy 2 Bafme2 Fcmte2 Adcme Cortical Myoclonic Tremor With Epilepsy, Familial, 2 Cortical Myoclonus And Epilepsy, Autosomal Dominant Familial Adult Myoclonic Epilepsy 2 Epilepsy, Myoclonic, Benign Adult Familial, Type 2 Autosomal Dominant Cortical Myoclonus And Epilepsy Familial Cortical Myoclonic Tremor And Epilepsy 2 Epilepsy, Myoclonic, Familial Adult, Type 2
Intrahepatic Cholestasis	Cholestasis, Intrahepatic Neonatal Intrahepatic Cholestasis Cholestasis Intrahepatic Cholestasis Of Pregnancy
Retinitis Pigmentosa 61	RP61 Retinitis Pigmentosa, Type 61
Cri-Du-Chat Syndrome	5p Deletion Syndrome 5p Partial Monosomy Syndrome Monosomy 5p Cat Cry Syndrome Chromosome 5p Deletion Syndrome Cri Du Chat Syndrome 5p- Syndrome 5p Minus Syndrome Chromosome 5p- Syndrome Chromosome 5 Short Arm Deletion Syndrome Chromosome 5p Deletion Deletion 5p Cri Du Chat 5p Partial Deletion Syndrome Partial Deletion Of Short Arm Of Chromosome 5 Syndrome
Mild Cognitive Impairment
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Adolescence-Adult Electroclinical Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS08144	MARCHF6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	MARCHF6	MGD	MGI:2442773
Macaca mulatta	MARCHF6	VGNC	VGNC:74626
Felis catus	MARCHF6	VGNC	VGNC:97501
Rattus norvegicus	MARCHF6	RGD	RGD:1565757
Bos taurus	MARCHF6	VGNC	VGNC:31241
Canis familiaris	MARCHF6	VGNC	VGNC:43019
Others	MARCHF6	NCBI