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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

HCOP human homology predictions: PTDSS1
Protein SuperFamily: phosphatidylserine synthase 1, eukaryotic type
Gene Tree: Ptdss1

Human
homologs
PTDSS1, phosphatidylserine synthase 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 9791
neXtProt AC: NX_P48651

Human Synonyms: LMHD, PSS1, PSSA

Human Chr (Location): 8q22; chr8:96261886-96334552 (+)  GRCh38.p2

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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 153
Northern blot 16
cDNA source data(96)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ptdss1 ; ZFIN ptdss1a    NEW 
Molecular
reagents
All nucleic(98) Genomic(1) cDNA(97)
Microarray probesets(6)
Other database
links
Ensembl Gene Model ENSMUSG00000021518 (Evidence)
Entrez Gene 19210 (Evidence)
UniGene 281464
DFCI TC1574891, TC1636796
DoTS DT.101125713, DT.94279398, DT.94279408, DT.491847, DT.110957589
NIA Mouse Gene Index U014963
EC 2.7.8.29
Consensus CDS Project CCDS26612.1
International Mouse Phenotyping Consortium Status Ptdss1
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
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory