Phosphatidylserine synthase 1

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)
End	96,336,995 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	67,146,465 bp
RNA expression pattern
	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
	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
	9791
	19210
	ENSG00000156471
	ENSMUSG00000021518
	P48651
	Q99LH2
	NM_014754; NM_001290225
	NM_008959
	NP_001277154; NP_055569
	NP_032985
	Wikidata
View/Edit Human	View/Edit Mouse

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

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].

References

GRCh38: Ensembl release 89: ENSG00000156471 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000021518 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: Phosphatidylserine synthase 1". Retrieved 2018-06-07.

Further reading

Tomohiro S, Kawaguti A, Kawabe Y, Kitada S, Kuge O (March 2009). "Purification and characterization of human phosphatidylserine synthases 1 and 2". Biochem. J. 418 (2): 421–9. doi:10.1042/BJ20081597. PMID 19014349. S2CID 31168340.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE (January 2014). "Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome". Nat. Genet. 46 (1): 70–6. doi:10.1038/ng.2829. hdl:10400.4/1596. PMID 24241535. S2CID 24824535.
Soueid J, Kourtian S, Makhoul NJ, Makoukji J, Haddad S, Ghanem SS, Kobeissy F, Boustany RM (January 2016). "RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism". Sci Rep. 6 19088. Bibcode:2016NatSR...619088S. doi:10.1038/srep19088. PMC 4705475. PMID 26742492.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000156471 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021518 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Phosphatidylserine synthase 1". Retrieved 2018-06-07.

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