PTDSS1 - phosphatidylserine synthase 1 Gene

Also Known as LMHD; PSS1; PSSA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9791

About PTDSS1

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:96,261,902-96,336,995 (from NCBI)

This gene has 6 transcripts (splice variants), 271 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 35.2), placenta (RPKM 27.0) and 25 other tissues.

Summary

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]

PTDSS1 Products (2)

mRNA	Protein	Name
NM_001290225.2	NP_001277154.1	phosphatidylserine synthase 1 isoform 2
NM_014754.3	NP_055569.1	phosphatidylserine synthase 1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables L-serine-phosphatidylcholine phosphatidyltransferase activity	IDA IDA: Inferred from direct assay	19014349	GOA
enables L-serine-phosphatidylcholine phosphatidyltransferase activity	IMP IMP: Inferred from mutant phenotype	24241535	GOA
enables L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IDA IDA: Inferred from direct assay	19014349	GOA
enables L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IMP IMP: Inferred from mutant phenotype	24241535	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phosphatidylserine biosynthetic process	IDA IDA: Inferred from direct assay	19014349	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTDSS1 Protein Structure

PSS

0
100
200
300
400
473 a.a.

Protein Preferred Names	Protein Names
phosphatidylserine synthase 1	PSS-1

Related Diseases

Diseases	Alias
Lenz-Majewski Hyperostotic Dwarfism	Lenz-Majewski Syndrome Lenz Majewski Hyperostotic Dwarfism LMHD Hyperostotic Dwarfism Lenz-Majewski Type Lenz-Majewski Hyperostotic Dysplasia Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis Lms
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome SMDCRD Smd-Crd Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy
Slate Pneumoconiosis	Schistosis
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Pharc Syndrome PHARC Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Peripheral Neuropathy, Fiskerstrand Type Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Calvarial Doughnut Lesions With Bone Fragility	Calvarial Doughnut Lesions With Bone Fragility With Or Without Spondylometaphyseal Dysplasia Calvarial Doughnut Lesions-Bone Fragility Syndrome CDL Doughnut Lesions Of Skull, Familial Calvarial Doughnut Lesions With Bone Fragility And Spondylometaphyseal Dysplasia Familial Doughnut Lesions Of Skull CDLSMD
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Spondylometaphyseal Dysplasia, Corner Fracture Type	SMDCF Spondylometaphyseal Dysplasia, Sutcliffe Type Spondylometaphyseal Dysplasia Corner Fracture Type Spondylometaphyseal Dysplasia, 'Corner Fracture' Type Spondylometaphyseal Dysplasia Sutcliffe Type Sutcliffe Type Of Spondylometaphyseal Dysplasia Spondylometaphyseal Dysplasia - Sutcliffe Type Smd, Corner Fractures Type Smd, Sutcliffe Type Sutcliffe Smd Dysplasia, Spondylometaphyseal, Corner Fracture Type
Sotos Syndrome 1	Sotos1 Sotos Syndrome, Type 1 Sotos' Syndrome
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Majewski Syndrome SRTD6 Srps2a Short Rib-Polydactyly Syndrome, Majewski Type Polydactyly With Neonatal Chondrodystrophy, Type Ii Short Rib-Polydactyly Syndrome Type Iia Short Rib-Polydactyly Syndrome Type 2 Short Rib-Polydactyly Syndrome Type Ii Short Rib-Polydactyly Syndrome, Type Ii Srps, Type Ii Short Rib-Polydactyly Syndrome, Type Iia Polydactyly With Neonatal Chondrodystrophy Type 2 Srps Type 2 Short Rib-Polydactyly Syndrome Majewski Type Polydactyly With Neonatal Chondrodystrophy Type Ii Short Rib-Polydactyly Syndrome 2a Srps Type Ii

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-158145	DS55980254	Inhibitor	99.25%	Unkown
HY-157562	DS68591889		99.18%	Unkown
HY-RS11361	PTDSS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-177450	DS07551382	Inhibitor	/	Unkown
HY-RS20585	Ptdss1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27093	Ptdss1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PTDSS1	VGNC	VGNC:45136
Rattus norvegicus	PTDSS1	RGD	RGD:1308949
Mus musculus	PTDSS1	MGD	MGI:1276575
Macaca mulatta	PTDSS1	VGNC	VGNC:76465
Bos taurus	PTDSS1	VGNC	VGNC:33495
Felis catus	PTDSS1	VGNC	VGNC:69137
Others	PTDSS1	NCBI