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Ptdss1
Gene Detail
 Symbol
Name
ID
Ptdss1
phosphatidylserine synthase 1
MGI:1276575
Synonyms PSS-1, PtdSer Synthase-1
Feature Type protein coding gene
Genetic Map
Chromosome 13
34.54 cM, cytoband B-C1
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr13:66932830-66998401 bp, + strand
From NCBI annotation of GRCm38

  65572 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7494  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: phosphatidylserine synthase 1, eukaryotic type
Gene Tree: Ptdss1

Human
homologs
Human Homolog PTDSS1, phosphatidylserine synthase 1
NCBI Gene ID 9791
neXtProt AC  NX_P48651
Human Synonyms  LMHD, PSS1, PSSA
Human Chr (Location)  8q22; chr8:96261939-96334546 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PTDSS1
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(2) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null allele exhibit decreased phosphatidylethanolamine and phosphatidylserine levels in the liver but normal axon growth and life span.
 
Interactions
Ptdss1 interacts with 210 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process lipid metabolic process, phosphatidylserine biosynthetic process, ...
Component endoplasmic reticulum, endoplasmic reticulum membrane, ...
Function transferase activity
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (169)    Tissues (113)    Images (39)
Theiler Stages: 22, 23, 28
Assay TypeResults
RNA in situ 153
Northern blot 16
cDNA source data(96)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(98) Genomic(1) cDNA(97)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000021518 (Evidence)
Entrez Gene19210 (Evidence)
UniGene281464
DFCITC1574891, TC1636796
DoTSDT.101125713, DT.110957589, DT.491847, DT.94279398, DT.94279408
NIA Mouse Gene IndexU014963
EC2.7.8.29
Consensus CDS ProjectCCDS26612.1
International Mouse Knockout Project StatusPtdss1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 19210 NCBI Gene Model | MGI Sequence Detail 65572 C57BL/6J ±  kb
transcript NM_008959 RefSeq | MGI Sequence Detail 3424 C57BL/6 
polypeptide Q99LH2 UniProt | EBI | MGI Sequence Detail 473 Not Applicable 

For the selected sequences
All sequences(32) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(568 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004277 Phosphatidyl serine synthase
Protein Ontology PR:000013415 phosphatidylserine synthase 1
Graphical View of Protein Domain Structure
References (Earliest) J:46676 Stone SJ, et al., Cloning and expression of mouse liver phosphatidylserine synthase-1 cDNA. Overexpression in rat hepatoma cells inhibits the CDP-ethanolamine pathway for phosphatidylethanolamine biosynthesis. J Biol Chem. 1998 Mar 27;273(13):7293-302
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(38)
Other
accession IDs
MGI:2145376, MGI:2145439

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory