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Pdcd1 Gene Detail
Summary
  • Symbol
    Pdcd1
  • Name
    programmed cell death 1
  • Synonyms
    PD-1, Pdc1
  • Feature Type
    protein coding gene
  • IDs
    MGI:104879
    NCBI Gene: 18566
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:93966027-93980278 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 47.47 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    541 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104879
 protein coding gene Chr1:93966027-93980278 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016353
 protein coding gene Chr1:95697270-95712982 (-)
A/J MGP_AJ_G0016337
 protein coding gene Chr1:92301436-92315772 (-)
AKR/J MGP_AKRJ_G0016298
 protein coding gene Chr1:95020415-95034639 (-)
BALB/cJ MGP_BALBcJ_G0016293
 protein coding gene Chr1:92509591-92524432 (-)
C3H/HeJ MGP_C3HHeJ_G0016119
 protein coding gene Chr1:95272493-95286661 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016752
 protein coding gene Chr1:99454897-99469089 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014470
 protein coding gene Chr1:86513036-86527131 (-)
CAST/EiJ MGP_CASTEiJ_G0015702
 protein coding gene Chr1:94588610-94603647 (-)
CBA/J MGP_CBAJ_G0016093
 protein coding gene Chr1:102601595-102615848 (-)
DBA/2J MGP_DBA2J_G0016198
 protein coding gene Chr1:91525639-91540283 (-)
FVB/NJ MGP_FVBNJ_G0016199
 protein coding gene Chr1:90591162-90606388 (-)
LP/J MGP_LPJ_G0016272
 protein coding gene Chr1:96966757-96980968 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016225
 protein coding gene Chr1:105661820-105677134 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016791
 protein coding gene Chr1:95021253-95035758 (-)
PWK/PhJ MGP_PWKPhJ_G0015490
 protein coding gene Chr1:90824912-90841286 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015274
 protein coding gene Chr1:93923311-93937458 (-)
WSB/EiJ MGP_WSBEiJ_G0015765
 protein coding gene Chr1:94854065-94869544 (-)



Homology
more
  • Human Ortholog
    PDCD1, programmed cell death 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PDCD1, programmed cell death 1
  • Synonyms
    AIMTBS, CD279, hPD-1, hPD-l, hSLE1, PD-1, PD1, SLEB2
  • Links
    NCBI Gene ID: 5133
    neXtProt AC: NX_Q15116
    UniProt: Q15116

  • Chr Location
    2q37.3; chr2:241849884-241858894 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pdcd1 mouse models; 7 with human PDCD1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    45 phenotypes from 4 alleles in 6 genetic backgrounds
    47 phenotypes from multigenic genotypes
    3 images
    224 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.
Mice homozygous for disruptions in this gene display abnormalities in leukopoiesis and the immune system which vary considerably depending on the genetic background.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    13
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
membraneless 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
    722
  • Tissues
    8
  • cDNA Data
    5
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18566 NCBI Gene Model | MGI Sequence Detail 14252 C57BL/6J ±  kb
    transcript NM_008798 RefSeq | MGI Sequence Detail 1933 C57BL/6  
    polypeptide Q02242 UniProt | EBI | MGI Sequence Detail 288 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 5
      cDNA 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13206, MGD-MRK-29032
    References
    more
    • Summaries
      All 380
      Developmental Gene Expression 2
      Diseases 5
      Gene Ontology 13
      Phenotypes 224
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:358160 Liu Y, et al., PD-1 deficiency impairs eosinophil recruitment to tissue during Trichinella spiralis infection. Cell Rep. 2024 Oct 16;43(11):114861
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory