Identity
HGNC
LOCATION
8q22.1
LOCUSID
ALIAS
LMHD,PSS1,PSSA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9791
MIM: 612792
HGNC: 9587
Ensembl: ENSG00000156471
Variants:
dbSNP: 9791
ClinVar: 9791
TCGA: ENSG00000156471
COSMIC: PTDSS1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000156471 | ENST00000337004 | J3KNR6 |
| ENSG00000156471 | ENST00000517309 | P48651 |
| ENSG00000156471 | ENST00000522072 | P48651 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37714410 | 2023 | Disease-related PSS1 mutant impedes the formation and function of osteoclasts. | 0 |
| 37714410 | 2023 | Disease-related PSS1 mutant impedes the formation and function of osteoclasts. | 0 |
| 34516042 | 2021 | Topology of phosphatidylserine synthase 1 in the endoplasmic reticulum membrane. | 3 |
| 34516042 | 2021 | Topology of phosphatidylserine synthase 1 in the endoplasmic reticulum membrane. | 3 |
| 31231513 | 2019 | Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. | 4 |
| 31231513 | 2019 | Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. | 4 |
| 29341480 | 2018 | Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. | 7 |
| 29341480 | 2018 | Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. | 7 |
| 26742492 | 2016 | RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. | 17 |
| 27044099 | 2016 | Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. | 58 |
| 26742492 | 2016 | RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. | 17 |
| 27044099 | 2016 | Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. | 58 |
| 24241535 | 2014 | Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. | 36 |
| 24241535 | 2014 | Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. | 36 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
PTDSS1 (phosphatidylserine synthase 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54563/ptdss1-(phosphatidylserine-synthase-1)
