PTDSS1

PTDSS1 catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine 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.

Full Name

Phosphatidylserine synthase 1

Function

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).

Biological Process

Phosphatidylserine biosynthetic processManual Assertion Based On ExperimentIDA:FlyBase

Involvement in disease

Lenz-Majewski hyperostotic dwarfism (LMHD):
A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction.

Topology

Cytoplasmic: 2-35
Helical: 36-56
Lumenal: 57-72
Helical: 73-93
Cytoplasmic: 94-102
Helical: 103-123
Lumenal: 124-186
Helical: 187-207
Cytoplasmic: 208-216
Helical: 217-237
Lumenal: 238-286
Helical: 287-307
Cytoplasmic: 308-319
Helical: 320-342
Cytoplasmic: 343-355
Helical: 356-376
Lumenal: 377-383
Helical: 384-404
Cytoplasmic: 405-473