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
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 66,932,830 bp[2] End 66,998,401 bp[2]
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: 66.93 – 67 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000156471 - Ensembl, May 2017
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.
5. "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.
• 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.
• 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. 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.