2. Gene
  3. MARCHF6 - membrane associated ring-CH-type finger 6 Gene

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 10299 | Gene type: protein coding

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 Reference Source
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 Reference Source
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 Reference Source
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

RINGv: RING-variant domain (9 - 55)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra MARCHF6 O60337 ADGRE2 Homo sapiens Q9UHX3
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08144 MARCHF6 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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