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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
  • Gene Overview
    MyGene.info: PDCD1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:94038305-94052553 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 47.47 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    186 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 Chr1:94038305-94052553 (-)
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
    9
  • Human Ortholog
    PDCD1, programmed cell death 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CD279, hPD-1, hPD-l, hSLE1, PD1, PD-1, SLEB2
  • Links
    NCBI Gene ID: 5133
    neXtProt AC: NX_Q15116
    UniProt: Q15116

  • Chr Location
    2q37.3; chr2:241849881-241858908 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Pdcd1 mouse models; 2 with human PDCD1 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 1 model
      
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
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  • Phenotype Summary
    45 phenotypes from 4 alleles in 6 genetic backgrounds
    46 phenotypes from multigenic genotypes
    3 images
    126 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.
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
  • 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 18566 NCBI Gene Model | MGI Sequence Detail 14249 C57BL/6J ±  kb
    transcript NM_008798 RefSeq | MGI Sequence Detail 1972 Not Specified  
    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 240
      Developmental Gene Expression 1
      Diseases 5
      Gene Ontology 9
      Phenotypes 126
    • 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:266879 Celada LJ, et al., PD-1 up-regulation on CD4(+) T cells promotes pulmonary fibrosis through STAT3-mediated IL-17A and TGF-beta1 production. Sci Transl Med. 2018 Sep 26;10(460)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory