Aliases for SACM1L Gene
External Ids for SACM1L Gene
Previous GeneCards Identifiers for SACM1L Gene
This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]
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 Or Amyelinating, Autosomal Recessive. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (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).