About   Help   FAQ
Pnp Gene Detail
Summary
  • Symbol
    Pnp
  • Name
    purine-nucleoside phosphorylase
  • Synonyms
    Np, Np-1, Np-2, Pnp, Pnp1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97365
    NCBI Gene: 18950
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:50944303-50953412 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 26.31 cM, cytoband B-C1
  • Mapping Data
    59 experiments
Strain
Comparison
more
  • SNPs within 2kb
    97 from dbSNP Build 142
  • Strain Annotations
    1
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97365
protein coding gene Chr14:50931082-50965237 (.)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ no annotation
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    PNP, purine nucleoside phosphorylase
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PNP, purine nucleoside phosphorylase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    NP, PRO1837, PUNP
  • Links
    NCBI Gene ID: 4860
    neXtProt AC: NX_P00491
    UniProt: P00491

  • Chr Location
    14q11.2; chr14:20469379-20478006 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 227
    1 human;2 mouse;1 rat;1 chimpanzee;2 cattle;1 dog;1 chicken;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PNP
  • Protein SuperFamily
  • Gene Tree
    Pnp
Human Diseases
more
  • Diseases
    1 with Pnp mouse models; 1 with human PNP associations

Human Disease Mouse Models
      
IDs
View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 9 alleles in 9 genetic backgrounds
    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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Nullizygous mice show impaired thymocyte differentiation, T cell function and mitochondrial DNA repair, altered lymphocyte subpopulations and metabolism, and enhanced thymocyte apoptosis and sensitivity to gamma-irradiation. ENU-induced mutants show a gradual decline in T cell number and function.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18950 NCBI Gene Model | MGI Sequence Detail 9110 C57BL/6J ±  kb
    transcript NM_013632 RefSeq | MGI Sequence Detail 2941 C57BL/6  
    polypeptide P23492 UniProt | EBI | MGI Sequence Detail 289 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • EC
    • InterPro Domains
      IPR000845 Nucleoside phosphorylase domain
      IPR035994 Nucleoside phosphorylase superfamily
      IPR011268 Purine nucleoside phosphorylase
      IPR011270 Purine nucleoside phosphorylase I, inosine/guanosine-specific
      IPR018099 Purine phosphorylase, family 2, conserved site
    Molecular
    Reagents
    less
    • All nucleic 20
      Genomic 1
      cDNA 17
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-12917, MGD-MRK-12918, MGD-MRK-12919, MGI:2145718, MGI:2145723
    References
    more
    • Summaries
      All 96
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 25
      Phenotypes 14
    • Earliest
      J:5817 Kozak C, et al., Gene linkage analysis in the mouse by somatic cell hybridization: assignment of adenine phosphoribosyltransferase to chromosome 8 and alpha-galactosidase to the X chromosome. Somatic Cell Genet. 1975 Oct;1(4):371-82
    • Latest
      J:238763 Choo HJ, et al., Karyopherin Alpha 1 Regulates Satellite Cell Proliferation and Survival by Modulating Nuclear Import. Stem Cells. 2016 Nov;34(11):2784-2797

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory