PTDSS1 (phosphatidylserine synthase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9791
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylserine synthase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTDSS1
Synonyms (NCBI Gene) Gene synonyms aliases
LMHD, PSS1, PSSA
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs587777088 A>G Pathogenic Missense variant, coding sequence variant
rs587777089 C>T Pathogenic Missense variant, coding sequence variant
rs587777090 T>C Pathogenic Missense variant, coding sequence variant
rs1057521718 A>G,T Likely-pathogenic Missense variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(211)
miRTarBase ID miRNA Experiments Reference
MIRT037324 hsa-miR-877-5p CLASH 23622248
MIRT617521 hsa-miR-4789-3p HITS-CLIP 23824327
MIRT617520 hsa-miR-4643 HITS-CLIP 23824327
MIRT617519 hsa-miR-1304-3p HITS-CLIP 23824327
MIRT617518 hsa-miR-942-5p HITS-CLIP 23824327
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(20)
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane ISS
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0006629 Process Lipid metabolic process IEA
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
612792 9587 ENSG00000156471
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P48651
Protein name Phosphatidylserine synthase 1 (PSS-1) (PtdSer synthase 1) (EC 2.7.8.29) (Serine-exchange enzyme I)
Protein function Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535). Catalyzes mainly the conversion of phosphatidylcholine (Pub
PDB 9B4E , 9B4F , 9B4G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03034 PSS 96 → 372 Phosphatidyl serine synthase Family
Sequence 
MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTR
DDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLF
LNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKA
LLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFL
EMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLT
ELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVI
GFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECE
DGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK
Sequence length 473
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   Reactome
  Glycerophospholipid metabolism
Metabolic pathways 		  Synthesis of PS
<
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 Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
lenz-majewski hyperostosis syndrome Lenz-Majewski hyperostosis syndrome rs587777088, rs587777089, rs587777090, rs1131691429 N/A
Show/Hide Unknown Diseases (4)
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
Diabetes Peripheral arterial disease x type 2 diabetes interaction N/A N/A GWAS
Gout Gout N/A N/A GWAS
Huntington Disease Huntington's disease progression N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 26742492
Autistic Disorder Associate 26742492
Bone Malalignment Associate 40524567
Cutis Laxa Associate 40524567
Developmental Disabilities Associate 35224839
Ear Diseases Associate 40524567
Gait Disorders Neurologic Associate 40524567
Lenz Majewski hyperostotic dwarfism Associate 35224839, 38262577
Neoplasms Associate 28753886, 35503998, 37489460
Short Rib Polydactyly Syndrome Associate 27044099, 34516042, 37714410, 40524567