SACM1L, Official Symbol SACM1Lprovided by HGNC Official Full Name SAC1 like phosphatidylinositide phosphataseprovided by HGNC Primary source HGNC:HGNC:17059 See related Ensembl:ENSG00000211456 MIM:606569; AllianceGenome:HGNC:17059 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SAC1 Summary 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] Expression Ubiquitous expression in thyroid (RPKM 28.5), lung (RPKM 17.8) and 25 other tissues See more Orthologs mouse all