9b4e

Structure of wild type human PSS1Structure of wild type human PSS1

Structural highlights

9b4e is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	Electron Microscopy, Resolution 2.7Å
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

PTSS1_HUMAN Lenz-Majewski hyperostotic dwarfism. The disease is caused by variants affecting the gene represented in this entry.

Function

PTSS1_HUMAN Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535). Catalyzes mainly the conversion of phosphatidylcholine (PubMed:19014349, PubMed:24241535). Also converts, in vitro and to a lesser extent, phosphatidylethanolamine (PubMed:19014349, PubMed:24241535).^[1] ^[2]

References

↑ Tomohiro S, Kawaguti A, Kawabe Y, Kitada S, Kuge O. Purification and characterization of human phosphatidylserine synthases 1 and 2. Biochem J. 2009 Mar 1;418(2):421-9. PMID:19014349 doi:10.1042/BJ20081597
↑ 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. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet. 2014 Jan;46(1):70-6. PMID:24241535 doi:10.1038/ng.2829

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OCA

[1] Tomohiro S, Kawaguti A, Kawabe Y, Kitada S, Kuge O. Purification and characterization of human phosphatidylserine synthases 1 and 2. Biochem J. 2009 Mar 1;418(2):421-9. PMID:19014349 doi:10.1042/BJ20081597

[2] 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. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet. 2014 Jan;46(1):70-6. PMID:24241535 doi:10.1038/ng.2829

[1]

[2]

9b4e

Structure of wild type human PSS1Structure of wild type human PSS1

Structural highlights

Disease

Function

References

Contents

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9b4e

Structure of wild type human PSS1Structure of wild type human PSS1

Structural highlights

Disease

Function

References

Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

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