Aliases for MARCHF1 Gene
- Membrane Associated Ring-CH-Type Finger 1 2 3 5
- Membrane-Associated Ring Finger (C3HC4) 1, E3 Ubiquitin Protein Ligase 2 3
- Membrane-Associated RING Finger Protein 1 3 4
- RING-Type E3 Ubiquitin Transferase MARCH1 3 4
- Membrane-Associated RING-CH Protein I 3 4
- E3 Ubiquitin-Protein Ligase MARCH1 3 4
- RING Finger Protein 171 3 4
External Ids for MARCHF1 Gene
Previous HGNC Symbols for MARCHF1 Gene
MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 22.214.171.124). 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]
GeneCards Summary for MARCHF1 Gene
MARCHF1 (Membrane Associated Ring-CH-Type Finger 1) is a Protein Coding gene. Diseases associated with MARCHF1 include Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly. An important paralog of this gene is MARCHF8.
UniProtKB/Swiss-Prot Summary for MARCHF1 Gene
E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system.