PISD (phosphatidylserine decarboxylase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23761
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylserine decarboxylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PISD
Synonyms (NCBI Gene) Gene synonyms aliases
DJ858B16, LIBF, PSD, PSDC, PSSC, dJ858B16.2
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.2
Summary Summary of gene provided in NCBI Entrez 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.
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612770 8999 ENSG00000241878
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Schizophrenia Childhood-onset schizophrenia N/A N/A ClinVar
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease 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