Gene: COPB1

Alternate names for this Gene: COPB

Gene Summary: This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.2

Description of this Gene: COPI coat complex subunit beta 1

Type of Gene: protein-coding

rs79732015 in COPB1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs7121538 in COPB1 gene and High density lipoprotein measurement PMID 26780889 2016 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

rs55665837 in COPB1 gene and Vitamin D measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs55665837 in COPB1 gene and Vitamin D3 measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.