PISD (phosphatidylserine decarboxylase)

2014-08-01  

Identity

HGNC
PISD
LOCATION
22q12.2
LOCUSID
23761
ALIAS
DJ858B16,LIBF,PSD,PSDC,PSSC,dJ858B16.2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
174784782007High-throughput mass spectrometry screening for inhibitors of phosphatidylserine decarboxylase.6
304886562019The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.6

Citation

Dessen P

PISD (phosphatidylserine decarboxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

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