PTDSS1 (phosphatidylserine synthase 1)

2014-08-01  

Identity

HGNC
LOCATION
8q22.1
LOCUSID
ALIAS
LMHD,PSS1,PSSA
FUSION GENES

Other Information

Locus ID:

NCBI: 9791
MIM: 612792
HGNC: 9587
Ensembl: ENSG00000156471

Variants:

dbSNP: 9791
ClinVar: 9791
TCGA: ENSG00000156471
COSMIC: PTDSS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156471ENST00000337004J3KNR6
ENSG00000156471ENST00000517309P48651
ENSG00000156471ENST00000522072P48651

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PSREACTOMER-HSA-1483101

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
270440992016Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.23
242415352014Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.20
190143492009Purification and characterization of human phosphatidylserine synthases 1 and 2.12
267424922016RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.7
293414802018Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.3
312315132019Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.1

Citation

Dessen P

PTDSS1 (phosphatidylserine synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54563/ptdss1