PISD
Phosphatidylserine decarboxylase proenzyme, mitochondrial
Also known as: dJ858B16.2, PISD_HUMAN, PSDC
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UG56
- Gene
- PISD
- Ensembl
- ENSG00000241878
- Chromosome
- 22
- Canonical length
- 409 aa
- Protein class
- Disease related genes, Enzymes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Golgi apparatus,Cytosol
OverviewNCBI Gene
The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]
Canonical amino-acid sequenceUniProt
409 residues, UniProt reviewed canonical sequence.
>Q9UG56|PISD
1 MATSVGHRCL GLLHGVAPWR SSLHPCEITA LSQSLQPLRK LPFRAFRTDA RKIHTAPART
61 MFLLRPLPIL LVTGGGYAGY RQYEKYRERE LEKLGLEIPP KLAGHWEVAL YKSVPTRLLS
121 RAWGRLNQVE LPHWLRRPVY SLYIWTFGVN MKEAAVEDLH HYRNLSEFFR RKLKPQARPV
181 CGLHSVISPS DGRILNFGQV KNCEVEQVKG VTYSLESFLG PRMCTEDLPF PPAASCDSFK
241 NQLVTREGNE LYHCVIYLAP GDYHCFHSPT DWTVSHRRHF PGSLMSVNPG MARWIKELFC
301 HNERVVLTGD WKHGFFSLTA VGATNVGSIR IYFDRDLHTN SPRHSKGSYN DFSFVTHTNR
361 EGVPMRKGEH LGEFNLGSTI VLIFEAPKDF NFQLKTGQKI RFGEALGSLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PISD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 49 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 49 nTPM
- adipose tissue: 41 nTPM
- placenta: 39 nTPM
- kidney: 33 nTPM
- testis: 29 nTPM
- spleen: 29 nTPM
Single-cell type
- endometrial glandular cells: 549 nCPM
- endometrial luminal cells: 418 nCPM
- cytotrophoblasts: 320 nCPM
- syncytiotrophoblasts: 279 nCPM
- ocular epithelial cells: 200 nCPM
- endometrial secretory cells: 190 nCPM
Immune cell
- neutrophil: 72 nTPM
- classical monocyte: 35 nTPM
- myeloid DC: 33 nTPM
- basophil: 29 nTPM
- intermediate monocyte: 29 nTPM
- total PBMC: 25 nTPM
Brain region
- cerebellum: 46 nTPM
- cerebral cortex: 38 nTPM
- hypothalamus: 37 nTPM
- choroid plexus: 35 nTPM
- basal ganglia: 34 nTPM
- thalamus: 33 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PISD.
Disease | AllUniProt
Conditions PISD is implicated in, by any mechanism.
- Liberfarb syndrome (LIBF) MIM:618889
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 232 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Liberfarb syndrome
- PISD-related mitochondrial disease
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.58
- gnomAD pLI
- 0.22
- gnomAD missense Z
- 0.68
- DepMap mean gene effect
- -0.7
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- lipid droplet formation
- mitochondrial protein catabolic process
- phosphatidylethanolamine biosynthetic process
- protein autoprocessing
- regulation of mitochondrion organization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Phosphatidylserine decarboxylase-related
- Phosphatidylserine decarboxylase, bacterial/eukaryotic
- Phosphatidylserine decarboxylase, eukaryotic type 1
- Phosphatidylserine decarboxylase
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PISD as an antibody target. Whether an autoantibody or antibody against PISD could matter depends on whether native PISD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PISD is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PISD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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