Entrez Summary: The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011].
UniProt Summary: Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis. {ECO:0000269|PubMed:21765411, ECO:0000269|PubMed:21765412}.
Pfam DomainsGO Terms
Pfam Domains
Beach
WD40
GO Terms
platelet formation
platelet morphogenesis
ficolin-1-rich granule membrane
tertiary granule membrane
myeloid cell differentiation
neutrophil degranulation
neutrophil activation involved in immune response
neutrophil mediated immunity
neutrophil activation
granulocyte activation
leukocyte degranulation
myeloid leukocyte mediated immunity
myeloid cell activation involved in immune response
hemopoiesis
cell morphogenesis involved in differentiation
myeloid leukocyte activation
hematopoietic or lymphoid organ development
leukocyte activation involved in immune response
cell activation involved in immune response
immune system development
regulated exocytosis
cell morphogenesis
leukocyte mediated immunity
exocytosis
cellular component morphogenesis
anatomical structure formation involved in morphogenesis
leukocyte activation
secretion by cell
endoplasmic reticulum
export from cell
cell activation
immune effector process
secretion
cell development
immune response
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)