SACM1L

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]

Description

SAC1 like phosphatidylinositide phosphatase

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Golgi apparatus

Predicted location

Intracellular, Membrane

Protein family

Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (45689056 - 45745409)

Ensembl ID

ENSG00000211456  (ver. 103.38)

Orthologs

Mouse Sacm1l: ENSMUSG00000025240

UniProt

Q9NTJ5

neXtProt

NX_Q9NTJ5

Human splice variants
Mouse splice variants

Protein structure