Entrez Summary: This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
DUF833
GO Terms
Golgi organization
protein secretion
establishment of protein localization to extracellular region
protein localization to extracellular region
peptide secretion
endomembrane system organization
Golgi apparatus
secretion by cell
export from cell
secretion
protein transport
peptide transport
amide transport
establishment of protein localization
nitrogen compound transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)