PISD (phosphatidylserine decarboxylase)

2014-08-01  

Identity

HGNC
LOCATION
22q12.2
LOCUSID
ALIAS
DJ858B16,LIBF,PSD,PSDC,PSSC,dJ858B16.2
FUSION GENES

Other Information

Locus ID:

NCBI: 23761
MIM: 612770
HGNC: 8999
Ensembl: ENSG00000241878

Variants:

dbSNP: 23761
ClinVar: 23761
TCGA: ENSG00000241878
COSMIC: PISD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000241878ENST00000266095Q9UG56
ENSG00000241878ENST00000266095A0A024R1K5
ENSG00000241878ENST00000382151Q9UG56
ENSG00000241878ENST00000382151A0A024R1K5
ENSG00000241878ENST00000397500B1AKM6
ENSG00000241878ENST00000422020B1AKM8
ENSG00000241878ENST00000429683B1AKN0
ENSG00000241878ENST00000431201B1AKN0
ENSG00000241878ENST00000435900H0Y7P7
ENSG00000241878ENST00000437808F8WCS6
ENSG00000241878ENST00000439502Q9UG56
ENSG00000241878ENST00000442379B1AKM9

Expression (GTEx)

0
50
100
150
200

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 PEREACTOMER-HSA-1483213

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
335937922021Conditional targeting of phosphatidylserine decarboxylase to lipid droplets.5
335937922021Conditional targeting of phosphatidylserine decarboxylase to lipid droplets.5
304886562019The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.35
304886562019The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.35
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
174784782007High-throughput mass spectrometry screening for inhibitors of phosphatidylserine decarboxylase.9
174784782007High-throughput mass spectrometry screening for inhibitors of phosphatidylserine decarboxylase.9

Citation

Dessen P

PISD (phosphatidylserine decarboxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54536/pisd-(phosphatidylserine-decarboxylase)