MARCHF1 - membrane associated ring-CH-type finger 1 Gene

Also Known as MARCH1; RNF171; MARCH-I

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55016

About MARCHF1

Cytogenetic location: 4q32.2-q32.3 Genomic coordinates (GRCh38): 4:163,524,298-164,384,019 (from NCBI)

This gene has 15 transcripts (splice variants), 197 orthologues and 6 paralogues. Broad expression in lymph node (RPKM 10.3), spleen (RPKM 8.7) and 21 other tissues.

Summary

MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and Other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]

MARCHF1 Products (3)

mRNA Protein Name
NM_001166373.2 NP_001159845.1 E3 ubiquitin-protein ligase MARCHF1 isoform 1
NM_001394959.1 NP_001381888.1 E3 ubiquitin-protein ligase MARCHF1 isoform 3
NM_017923.4 NP_060393.1 E3 ubiquitin-protein ligase MARCHF1 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables MHC protein binding IDA
IDA: Inferred from direct assay
18389477 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
14722266 GOA
Biological Process GO Annotation Evidence References Source
involved in antigen processing and presentation of peptide antigen via MHC class II IDA
IDA: Inferred from direct assay
18389477 GOA
involved in immune response IDA
IDA: Inferred from direct assay
18305173 GOA
involved in protein polyubiquitination IDA
IDA: Inferred from direct assay
19117940 GOA
involved in protein polyubiquitination IMP
IMP: Inferred from mutant phenotype
27577745 GOA
Cellular Component GO Annotation Evidence References Source
located in early endosome membrane IDA
IDA: Inferred from direct assay
19117940 GOA
located in endosome IDA
IDA: Inferred from direct assay
14722266 GOA
located in late endosome membrane IDA
IDA: Inferred from direct assay
19117940 GOA
located in lysosome IDA
IDA: Inferred from direct assay
14722266 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
19117940 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

MARCHF1 Protein Structure

RINGv

RINGv: RING-variant domain (80 - 126)

  • 0
  • 100
  • 200
  • 289 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase MARCHF1

  • E3 ubiquitin-protein ligase MARCH1

Related Diseases

Diseases Alias
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly

  • MARCH

  • Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly

  • Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome

  • Hydranencephaly With Renal Aplasia-Dysplasia

  • March Syndrome
Immunodeficiency 33

  • IMD33

  • X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency

  • X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Nemo Deficiency

  • X-Linked Msmd Due To Ikbkg Deficiency

  • X-Linked Msmd Due To Nemo Deficiency

  • Invasive Pneumococcal Disease, Recurrent Isolated, 2

  • Invasive Pneumococcal Disease, Recurrent Isolated, 2, Formerly

  • Ipd2, Formerly

  • Nf-Kappa B Essential Modulator Deficiency

  • Familial X-Linked 1 Atypical Mycobacteriosis

  • Nemo Deficiency Syndrome

  • Amcbx1

  • Familial, X-Linked, Atypical Mycobacteriosis 1

  • Ipd2

  • Recurrent Isolated Invasive Pneumococcal Disease 2

  • X-Linked Disseminated Atypical Mycobacterial Infection Type 1

  • X-Linked Immunodeficiency 33, Mycobacteriosis

  • X-Linked Susceptibility To Mycobacterial Disease Type 1

  • Invasive Pneumococcal Disease, Recurrent Isolated, Type 2

  • Atypical Mycobacteriosis, Familial, X-Linked 1
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)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08143 MARCHF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MARCHF1 RGD RGD:1305148
Canis familiaris MARCHF1 VGNC VGNC:43014
Felis catus MARCHF1 VGNC VGNC:107345
Mus musculus MARCHF1 MGD MGI:1920175
Macaca mulatta MARCHF1 VGNC VGNC:100245
Bos taurus MARCHF1 VGNC VGNC:31236
Others MARCHF1 NCBI