Property Summary

NCBI Gene PubMed Count 12
Grant Count 4
Funding $1,022,791.62
PubMed Score 76.05
PubTator Score 15.80

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.488 0.006
Multiple myeloma 1.758 0.000
lung cancer 1.900 0.000
Breast cancer 2.800 0.036
group 4 medulloblastoma -1.100 0.000
ovarian cancer 2.000 0.000

Synonym

Accession P48651 B4DE85 E5RFC5 Q9BUQ5 PSS-1
Symbols LMHD
PSS1
PSSA

Gene

PANTHER Protein Class (1)

Gene RIF (9)

PMID Text
27044099 PSS1 mutations not only affect cellular PS levels and distribution but also lead to a more complex imbalance in lipid homeostasis by disturbing PI4P metabolism.
24241535 Gain-of-function missense mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
23125841 Tandem affinity purification and mass spectrometry analysis identify phosphatidylserine synthase 1 (PTDSS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23125841 Tandem affinity purification and mass spectrometry analysis identify phosphatidylserine synthase 1 (PTDSS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23125841 Tandem affinity purification and mass spectrometry analysis identify phosphatidylserine synthase 1 (PTDSS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23125841 Tandem affinity purification and mass spectrometry analysis identify phosphatidylserine synthase 1 (PTDSS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19014349 Purification and characterization of human phosphatidylserine synthases 1 and 2.
18854154 Knockdown of phosphatidylserine synthase 1 (PTDSS1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1

AA Sequence

MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVPEDNIW      1 - 70
RGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYA     71 - 140
TREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNF    141 - 210
AECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDP    211 - 280
KSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRV    281 - 350
GTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECE    351 - 420
DGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK                     421 - 473
//

Text Mined References (24)

PMID Year Title
27044099 2016 Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24241535 2014 Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19946888 2010 Defining the membrane proteome of NK cells.
19369195 2009 Large-scale proteomics analysis of the human kinome.
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