PTDSS1 (Gene)

Organism:

Homo sapiens

Synonyms:ENTREZ:9791, HGNC:9587, LMHD, MIM:612792, NM_001290225, NM_014754, NP_001277154, NP_055569, PSS1, PSSA, PTDSS1, phosphatidylserine synthase 1

Omim:OMIM:612792

Id:ENSG00000156471

Hgnc:HGNC:9587

Entrez:9791

Ensembl:ENSG00000156471

Description:phosphatidylserine synthase 1

The protein encoded by this gene 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View PTDSS1's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with PTDSS1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using PTDSS1.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for PTDSS1.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with PTDSS1.

Results found

Linked to

	Label	Description
	GSE252944 AKT inhibition 10 v 15 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE226249 pirfenidone HL 2 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE96649 1 V 0 DEXAMETHASONE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE158834 0 V 3 PALMITIC ACID HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE168401 2 V 0 HARMINE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE255432 7 V 3 IMEGLIMIN MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE48812 11 V 6 SULFORAPHANE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE146687 2 V 5 ERIBULIN HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE213588 9 V 13 TRAMETINIB HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE116810 5 V 1 SELINEXOR HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS

GSE252944 AKT inhibition 10 v 15 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE226249 pirfenidone HL 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE96649 1 V 0 DEXAMETHASONE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE158834 0 V 3 PALMITIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE168401 2 V 0 HARMINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE255432 7 V 3 IMEGLIMIN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE48812 11 V 6 SULFORAPHANE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE146687 2 V 5 ERIBULIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE213588 9 V 13 TRAMETINIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE116810 5 V 1 SELINEXOR HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.