COPB1 Chromosome 11
Coat protein complex I subunit beta 1
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What This Gene Does
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. [provided by RefSeq, Jan 2009]
Gene Info
Gene Group
"Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Coat protein complex I"
Locus Type
gene with protein product
Location
11p15.2
Ensembl
ENSG00000129083
Associated Conditions (16)
Baralle-Macken syndrome
Hepatocellular carcinoma
Sarcoma
Gastric cancer
Thyroid cancer
nonmedullary
1
Cervical cancer
Severe intellectual disability
Immunodeficiency
Cataract
Microcephaly
Short stature
Failure to thrive
Skeletal dysplasia
Delayed speech and language development
Key Variants
RS2290169
Conflicting classifications of pathogenicity
Baralle-Macken syndrome, Hepatocellular carcinoma, Sarcoma
Health Risk
RS1850476947
Pathogenic
Severe intellectual disability, Immunodeficiency, Cataract
Health Risk
RS2493876974
Pathogenic
Short stature, Failure to thrive, Skeletal dysplasia
Health Risk
RS1850695885
Pathogenic/Likely pathogenic
Severe intellectual disability, Cataract, Microcephaly
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2290169 | Health Risk | Conflicting classifications of pathogenicity | Baralle-Macken syndrome, Hepatocellular carcinoma, Sarcoma |
| RS1850476947 | Health Risk | Pathogenic | Severe intellectual disability, Immunodeficiency, Cataract |
| RS2493876974 | Health Risk | Pathogenic | Short stature, Failure to thrive, Skeletal dysplasia |
| RS1850695885 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual disability, Cataract, Microcephaly |