Entrez Summary: This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010].
UniProt Summary: May regulate cell cycle progression through interaction with MAD2L2. {ECO:0000269|PubMed:11717438}.
Pfam DomainsGO Terms
Pfam Domains
PRCC Cterm
GO Terms
mitotic cell cycle checkpoint
cell cycle checkpoint
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile
mRNA splicing, via spliceosome
RNA splicing, via transesterification reactions
negative regulation of mitotic cell cycle
RNA splicing
nuclear speck
mRNA processing
negative regulation of cell cycle
mitotic cell cycle process
regulation of mitotic cell cycle
mitotic cell cycle
mRNA metabolic process
RNA processing
cell cycle process
regulation of cell cycle
cell cycle
RNA metabolic process
gene expression
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)