Aliases for SACM1L Gene
External Ids for SACM1L Gene
Previous GeneCards Identifiers for SACM1L Gene
This gene encodes an integral membrane protein that is localized to the endoplasmic reticulum and golgi, and functions as a phosphoinositide lipid phosphatase. Studies in mammals suggest that this gene is involved in the organization of golgi membranes and the mitotic spindles. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
GeneCards Summary for SACM1L Gene
SACM1L (SAC1 Like Phosphatidylinositide Phosphatase) is a Protein Coding gene. Diseases associated with SACM1L include Yunis-Varon Syndrome and Neuropathy, Congenital Hypomyelinating. Among its related pathways are Metabolism and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include phosphatase activity and phosphoric ester hydrolase activity. An important paralog of this gene is INPP5F.
UniProtKB/Swiss-Prot for SACM1L Gene
Phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 4-phosphate (PtdIns(4)P) (PubMed:24209621). Has low activity towards PtdIns(3,5)P2 (By similarity).