MARCHF1
membrane associated ring-CH-type finger 1
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]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs771553443 | 4:164,449,923 | G/A | — | uncertain significance |
| rs774958323 | 4:164,449,984 | A/C | — | uncertain significance |
| rs1738244710 | 4:164,450,060 | A/C | — | uncertain significance |
| rs2036904 | 4:164,473,428 | A/C | intron variant | — |
| rs35299515 | 4:164,489,315 | A/G | intron variant | — |
| rs72989863 | 4:164,493,807 | G/C | — | — |
| rs767336050 | 4:164,506,906 | G/A | — | uncertain significance |
| rs760378901 | 4:164,506,925 | C/G | — | uncertain significance |
| rs141453870 | 4:164,507,000 | C/G | — | uncertain significance |
| rs2477092934 | 4:164,507,054 | C/G | — | uncertain significance |
| rs3792615 | 4:164,532,801 | T/C | intron variant | — |
| rs538814076 | 4:164,534,511 | C/T | — | uncertain significance |
| rs200294283 | 4:164,534,517 | G/A | — | uncertain significance |
| rs9715475 | 4:164,553,726 | C/G | — | — |
| rs182777539 | 4:164,684,160 | T/C | intron variant | — |
| rs6853197 | 4:164,693,489 | C/A | — | — |
| rs375276624 | 4:164,775,194 | G/T | — | uncertain significance |
| rs201095700 | 4:164,775,198 | G/T | — | uncertain significance |
| rs149117229 | 4:164,775,204 | T/C | — | uncertain significance |
| rs2476965156 | 4:164,775,208 | C/T | — | uncertain significance |
| rs4533720 | 4:164,959,804 | A/T | — | — |
| rs576359040 | 4:165,051,390 | T/C | — | — |
| rs723730 | 4:165,075,508 | A/T | intron variant | — |
| rs17044630 | 4:165,078,593 | T/A | intron variant | — |
| rs61734696 | 4:165,118,455 | G/T | coding sequence variant | — |
| rs6829588 | 4:165,221,971 | G/T | intron variant | — |
| rs10517806 | 4:165,284,262 | G/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.