2. Gene
  3. MARCHF1 - membrane associated ring-CH-type finger 1 Gene

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

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

Also known as MARCH1; RNF171; MARCH-I

Gene ID: 55016 | Gene type: protein coding

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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08143 MARCHF1 Human Pre-designed siRNA Set A / 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