InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PTDSS1

Summary

InnateDB Protein

IDBP-480493.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PTDSS1

Protein Name

phosphatidylserine synthase 1

Synonyms

LMHD; PSS1; PSSA;

Species

Homo sapiens

Ensembl Protein

ENSP00000430548

InnateDB Gene

IDBG-29455 (PTDSS1)

Protein Structure

UniProt Annotation

Function

Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Highly enriched in the mitochondria-associated membrane (MAM). {ECO:0000250}.

Disease Associations

Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050]: 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. {ECO:0000269PubMed:24241535}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016740	transferase activity

Biological Process

GO:0006644	phospholipid metabolic process
GO:0006659	phosphatidylserine biosynthetic process
GO:0044281	small molecule metabolic process
GO:0046474	glycerophospholipid biosynthetic process