Gene: MARCHF1

Alternate names for this Gene: MARCH-I|MARCH1|RNF171

Gene 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].

Gene is located in Chromosome: 4

Location in Chromosome : 4q32.2-q32.3

Description of this Gene: membrane associated ring-CH-type finger 1

Type of Gene: protein-coding

rs17044858 in MARCHF1 gene and Adiponectin Measurement PMID 20887962 2010 Adiponectin concentrations: a genome-wide association study.

rs41445146 in MARCHF1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs41445146 in MARCHF1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs10002082 in MARCHF1 gene and heart rate PMID 29478026 2018 Genome-Wide Association Approach Identified Novel Genetic Predictors of Heart Rate Response to β-Blockers.