MARCHF1 membrane associated ring-CH-type finger 1
Gene ID: 55016, updated on 10-Mar-2024Gene type: protein coding
Also known as: MARCH1; RNF171; MARCH-I
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- Go to complete Gene record for MARCHF1
- Go to Variation Viewer for MARCHF1 variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. GeneReviews: Not available | |
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. GeneReviews: Not available |
Genomic context
- Location:
- 4q32.2-q32.3
- Sequence:
- Chromosome: 4; NC_000004.12 (163524298..164384019, complement)
- Total number of exons:
- 11
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for MARCHF1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- SNP: GeneViewSNPs linked from GeneView
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