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Pts Gene Detail
Summary
  • Symbol
    Pts
  • Name
    6-pyruvoyl-tetrahydropterin synthase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338783
    NCBI Gene: 19286
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:50432917-50440017 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 27.73 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    82 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1338783
 protein coding gene Chr9:50432917-50440024 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034777
 protein coding gene Chr9:49411630-49418981 (-)
A/J MGP_AJ_G0034758
 protein coding gene Chr9:47902742-47909765 (-)
AKR/J MGP_AKRJ_G0034686
 protein coding gene Chr9:48915564-48922586 (-)
BALB/cJ MGP_BALBcJ_G0034750
 protein coding gene Chr9:47631584-47638607 (-)
C3H/HeJ MGP_C3HHeJ_G0034460
 protein coding gene Chr9:49398099-49405605 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035270
 protein coding gene Chr9:50790988-50797841 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032183
 protein coding gene Chr9:47373802-47380952 (-)
CAST/EiJ MGP_CASTEiJ_G0033782
 protein coding gene Chr9:49346790-49354142 (-)
CBA/J MGP_CBAJ_G0034432
 protein coding gene Chr9:52599608-52606630 (-)
DBA/2J MGP_DBA2J_G0034591
 protein coding gene Chr9:47767001-47774024 (-)
FVB/NJ MGP_FVBNJ_G0034532
 protein coding gene Chr9:46986232-46993235 (-)
LP/J MGP_LPJ_G0034672
 protein coding gene Chr9:49772746-49780098 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034576
 protein coding gene Chr9:54200549-54209500 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035291
 protein coding gene Chr9:48893375-48900398 (-)
PWK/PhJ MGP_PWKPhJ_G0033487
 protein coding gene Chr9:47744446-47751469 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033322
 protein coding gene Chr9:49204571-49211670 (-)
WSB/EiJ MGP_WSBEiJ_G0033895
 protein coding gene Chr9:48895112-48902116 (-)



Homology
more
  • Human Ortholog
    PTS, 6-pyruvoyltetrahydropterin synthase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PTS, 6-pyruvoyltetrahydropterin synthase
  • Synonyms
    PTPS
  • Links
    NCBI Gene ID: 5805
    neXtProt AC: NX_Q03393
    UniProt: Q03393

  • Chr Location
    11q23.1; chr11:112226367-112269955 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pts mouse models; 2 with human PTS associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 3 alleles in 4 genetic backgrounds
    11 phenotypes from multigenic genotypes
    14 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.
Homozygotes for targeted null mutations exhibit reduced dopamine and serotonin levels in brain, increased levels of neopterin, biopterin, and phenylalanine in liver, and lethality within the first week after birth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    883
  • Tissues
    147
  • cDNA Data
    60
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19286 NCBI Gene Model | MGI Sequence Detail 7101 C57BL/6J ±  kb
    transcript NM_001409198 RefSeq | MGI Sequence Detail 1484 C57BL/6  
    polypeptide Q9R1Z7 UniProt | EBI | MGI Sequence Detail 144 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000013485 6-pyruvoyl tetrahydrobiopterin synthase
      (term hierarchy)
    • EC
      4.2.3.12
    • InterPro Domains
      IPR022470 6-pyruvoyl tetrahydropterin synthase, cysteine active site
      IPR022469 6-pyruvoyl tetrahydropterin synthase, histidine active site
      IPR007115 6-pyruvoyl tetrahydropterin synthase/QueD family
      IPR038418 6-pyruvoyl tetrahydropterin synthase/QueD superfamily
    Molecular
    Reagents
    less
    • All nucleic 64
      Genomic 3
      cDNA 61

      Microarray probesets 5
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 4
      Diseases 4
      Gene Ontology 9
      Phenotypes 14
    • Earliest
      J:52326 Turri MO, et al., Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene. Biol Chem. 1998 Dec;379(12):1441-7
    • Latest
      J:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory