Phosphatidylserine synthase 1

Phosphatidylserine synthase 1 is a protein that in humans is encoded by the PTDSS1 gene. ^[5]

PTDSS1
Identifiers
Aliases	PTDSS1, LMHD, PSS1, PSSA, phosphatidylserine synthase 1
External IDs	OMIM: 612792; MGI: 1276575; HomoloGene: 7494; GeneCards: PTDSS1; OMA:PTDSS1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q22.1 Start 96,261,902 bp[1] End 96,336,995 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 B3|13 34.54 cM Start 67,080,894 bp[2] End 67,146,465 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in myocardium of left ventricle right ventricle secondary oocyte stromal cell of endometrium cardiac muscle tissue of right atrium apex of heart right auricle of heart white blood cell gingival epithelium monocyte Top expressed in external carotid artery internal carotid artery substantia nigra epithelium of lens ciliary body Paneth cell retinal pigment epithelium vestibular membrane of cochlear duct epithelium of stomach jejunum More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity Cellular component endoplasmic reticulum membrane membrane endoplasmic reticulum integral component of membrane Biological process phosphatidylserine biosynthetic process lipid metabolism phospholipid biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9791 19210 Ensembl ENSG00000156471 ENSMUSG00000021518 UniProt P48651 Q99LH2 RefSeq (mRNA) NM_014754 NM_001290225 NM_008959 RefSeq (protein) NP_001277154 NP_055569 NP_032985 Location (UCSC) Chr 8: 96.26 – 96.34 Mb Chr 13: 67.08 – 67.15 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine synthase localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014].