PISD (phosphatidylserine decarboxylase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23761
Gene name Phosphatidylserine decarboxylase
Gene symbol PISD
Synonyms (NCBI Gene)
DJ858B16LIBFPSDPSDCPSSCdJ858B16.2
Chromosome 22
Chromosome location 22q12.2
Summary 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.
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1410592269 TGGTGATAGG>- Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
1290
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1290)
miRTarBase ID miRNA Experiments Reference
MIRT001431 hsa-miR-16-5p pSILAC 18668040
MIRT471040 hsa-miR-548ad-3p PAR-CLIP 20371350
MIRT471039 hsa-miR-451b PAR-CLIP 20371350
MIRT471038 hsa-miR-15a-5p PAR-CLIP 20371350
MIRT471037 hsa-miR-15b-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0004609 Function Phosphatidylserine decarboxylase activity IBA
GO:0004609 Function Phosphatidylserine decarboxylase activity IEA
GO:0004609 Function Phosphatidylserine decarboxylase activity IMP 30858161
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612770 8999 ENSG00000241878
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UG56
Protein name Phosphatidylserine decarboxylase proenzyme, mitochondrial (EC 4.1.1.65) [Cleaved into: Phosphatidylserine decarboxylase beta chain; Phosphatidylserine decarboxylase alpha chain]
Protein function Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer) (PubMed:30488656, PubMed:30858161). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine. May be
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02666 PS_Dcarbxylase 165 → 408 Phosphatidylserine decarboxylase Family
Sequence 
MATSVGHRCLGLLHGVAPWRSSLHPCEITALSQSLQPLRKLPFRAFRTDARKIHTAPART
MFLLRPLPILLVTGGGYAGYRQYEKYRERELEKLGLEIPPKLAGHWEVALYKSVPTRLLS
RAWGRLNQVELPHWLRRPVYSLYIWTFGVNMKEAAVEDLHHYRNLSEFFRRKLKPQARPV
CGLHSVISPSDGRILNFGQVKNCEVEQVKGVTYSLESFLGPRMCTEDLPFPPAASCDSFK
NQLVTREGNELYHCVIYLAPGDYHCFHSPTDWTVSHRRHFPGSLMSVNPGMARWIKELFC
HNERVVLTGDWKHGFFSLTAVGATNVGSIRIYFDRDLHTNSPRHSKGSYNDFSFVTHTNR
EGVPMRKGEHLGEFNLGSTIVLIFEAPKDFNFQLKTGQKIRFGEALGSL
Sequence length 409
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Glycerophospholipid metabolism
Metabolic pathways 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Liberfarb syndrome Likely pathogenic; Pathogenic rs1603393478, rs1410592269, rs2072505076 RCV001095804
RCV000855679
RCV001095802
PISD-related mitochondrial disease Likely pathogenic; Pathogenic rs1603393478 RCV000786857
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Childhood-onset schizophrenia Benign rs863223357 RCV000202348
PISD-related disorder Likely benign rs142790252, rs187126874 RCV003916281
RCV003916143
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 19034969
Cataract Associate 30858161
Growth Disorders Associate 30858161
HEM dysplasia Associate 30858161
Leukoencephalopathies Associate 30858161
Mitochondrial Diseases Associate 30858161
Neoplasms Associate 19034969
Syndrome Associate 31263216