Alternative titles; symbols
HGNC Approved Gene Symbol: SERINC1
Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:122,443,351-122,471,807 (from NCBI)
SERINC1 belongs to the SERINC family of transmembrane proteins that facilitate incorporation of serine into phosphatidylserine and sphingolipids (Inuzuka et al., 2005).
By sequencing clones obtained from a size-fractionated adult brain cDNA library, Nagase et al. (1999) cloned SERINC1, which they designated KIAA1253. RT-PCR ELISA detected SERINC1 expression in all adult and fetal tissues and adult brain regions examined. Highest expression was in brain, predominantly in caudate nucleus, and lowest expression was in pancreas, spleen, and testis.
Grossman et al. (2000) cloned mouse Serinc1, which they called Tms2, and they identified human TMS2 by database analysis. The deduced mouse and human proteins contain 453 and 440 amino acids, respectively. Both have 11 transmembrane segments, a MYC (190080)-type helix-loop-helix dimerization motif between transmembrane domains 7 and 8, and several putative phosphorylation sites. In situ hybridization of mouse brain revealed Tms2 expression in virtually every neuron, with highest expression in hippocampus, olfactory bulb, cerebral cortex, and granule cell layer of cerebellum. No Tms2 expression was detected in peripheral tissues. Epitope-tagged Tms2 was expressed in a punctate distribution on the surface of transfected HEK293 cells.
Inuzuka et al. (2005) found that rat Serinc1 was expressed in endoplasmic reticulum (ER) membranes of transfected COS cells.
Inuzuka et al. (2005) found that Serinc1 mRNA was upregulated in rat hippocampal CA1-3 neurons following kainate-induced seizure. Expression of rat Serinc1 in E. coli, yeast, or COS cells enhanced the activity of phosphatidylserine synthase (see 612792), resulting in enhanced incorporation of radiolabeled serine into phosphatidylserine. Serinc1 did not enhance serine uptake. In COS cells, Serinc1 also enhanced the activity of serine palmitoyltransferase (see 605712), resulting in incorporation of serine into 3-ketodihydrosphingosine. Serinc1 and serine palmitoyltransferase colocalized at ER membranes, and yeast 2-hybrid experiments revealed that the 2 proteins interacted directly.
Hartz (2012) mapped the SERINC1 gene to chromosome 6q22.31 based on an alignment of the SERINC1 sequence (GenBank AB033079) with the genomic sequence (GRCh37).
Grossman, T. R., Luque, J. M., Nelson, N. Identification of a ubiquitous family of membrane proteins and their expression in mouse brain. J. Exp. Biol. 203: 447-457, 2000. [PubMed: 10637174] [Full Text: https://doi.org/10.1242/jeb.203.3.447]
Hartz, P. A. Personal Communication. Baltimore, Md. 2/3/2012.
Inuzuka, M., Hayakawa, M., Ingi, T. Serinc, an activity-regulated protein family, incorporates serine into membrane lipid synthesis. J. Biol. Chem. 280: 35776-35783, 2005. [PubMed: 16120614] [Full Text: https://doi.org/10.1074/jbc.M505712200]
Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 337-345, 1999. [PubMed: 10574462] [Full Text: https://doi.org/10.1093/dnares/6.5.337]