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Pdcd1 programmed cell death 1 [ Mus musculus (house mouse) ]

Gene ID: 18566, updated on 27-Nov-2024

Summary

Official Symbol
Pdcd1provided by MGI
Official Full Name
programmed cell death 1provided by MGI
Primary source
MGI:MGI:104879
See related
Ensembl:ENSMUSG00000026285 AllianceGenome:MGI:104879
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PD-1; Pdc1; Ly101
Summary
Predicted to enable signaling receptor activity. Involved in negative regulation of immune response. Acts upstream of or within negative regulation of B cell apoptotic process; negative regulation of tolerance induction; and positive regulation of T cell apoptotic process. Located in external side of plasma membrane. Is expressed in retina. Used to study dilated cardiomyopathy and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in autoimmune disease (multiple); hepatitis B; hepatitis C; hepatocellular carcinoma; and lupus nephritis. Orthologous to human PDCD1 (programmed cell death 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in thymus adult (RPKM 7.6), ovary adult (RPKM 3.5) and 3 other tissues See more
Orthologs
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Genomic context

See Pdcd1 in Genome Data Viewer
Location:
1 D; 1 47.47 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (93966027..93980278, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (94038305..94052553, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene galactose-3-O-sulfotransferase 2C Neighboring gene STARR-positive B cell enhancer mm9_chr1:95931456-95931756 Neighboring gene sialidase 4 Neighboring gene STARR-positive B cell enhancer mm9_chr1:95975743-95976044 Neighboring gene STARR-seq mESC enhancer starr_01739 Neighboring gene STARR-seq mESC enhancer starr_01740 Neighboring gene STARR-seq mESC enhancer starr_01742 Neighboring gene predicted gene 7891 Neighboring gene STARR-seq mESC enhancer starr_01743 Neighboring gene STARR-seq mESC enhancer starr_01744 Neighboring gene STARR-seq mESC enhancer starr_01745 Neighboring gene predicted gene 7895

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor activity ISO
Inferred from Sequence Orthology
more info
 
enables signaling receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
acts_upstream_of B cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of B cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of T cell activation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of T cell activation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of T cell mediated immune response to tumor cell IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of T cell mediated immune response to tumor cell ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of tolerance induction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of T cell apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within positive regulation of T cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of immune response IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of regulatory T cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
programmed cell death protein 1
Names
mPD-1
programmed cell death 1 protein
protein PD-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_008798.3NP_032824.1  programmed cell death protein 1 precursor

    See identical proteins and their annotated locations for NP_032824.1

    Status: VALIDATED

    Source sequence(s)
    AC167963, CAAA01019909
    Consensus CDS
    CCDS15200.1
    UniProtKB/Swiss-Prot
    Q02242
    UniProtKB/TrEMBL
    Q544F3
    Related
    ENSMUSP00000027507.7, ENSMUST00000027507.9
    Conserved Domains (2) summary
    smart00410
    Location:39144
    IG_like; Immunoglobulin like
    pfam07686
    Location:39145
    V-set; Immunoglobulin V-set domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    93966027..93980278 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)