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Ptdss1 Gene Detail
Summary
  • Symbol
    Ptdss1
  • Name
    phosphatidylserine synthase 1
  • Synonyms
    PSS-1, PtdSer Synthase-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1276575
    NCBI Gene: 19210
Location & Maps
more
  • Sequence Map
    Chr13:66932830-66998401 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      65572 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 34.54 cM, cytoband B-C1
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    PTDSS1, phosphatidylserine synthase 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PTDSS1, phosphatidylserine synthase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LMHD, PSS1, PSSA
  • Links
    NCBI Gene ID: 9791
    neXtProt AC: NX_P48651

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

Human Diseases
more
  • Diseases
    1 with human PTDSS1 associations

Human Disease Mouse Models
       Lenz-Majewski Hyperostotic Dwarfism; LMHD   OMIM: 151050
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 2 alleles in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Targeted
    4
  • Genomic Mutations
    1 involving Ptdss1
  • Incidental Mutations
Mice homozygous for a null allele exhibit decreased phosphatidylethanolamine and phosphatidylserine levels in the liver but normal axon growth and life span.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    560 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 98
    Genomic 1
    cDNA 97

    Microarray probesets 6
Other
Accession IDs
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MGI:2145376, MGI:2145439
References
more
  • Summaries
    All 36
    Developmental Gene Expression 4
    Gene Ontology 5
    Phenotypes 10
  • 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

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
09/20/2016
MGI 6.05
The Jackson Laboratory