Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearin... See more...

Aliases for PILRA Gene

Aliases for PILRA Gene

  • Paired Immunoglobin Like Type 2 Receptor Alpha 2 3 5
  • Paired Immunoglobulin-Like Type 2 Receptor Alpha 3 4
  • Inhibitory Receptor PILR-Alpha 3 4
  • Cell Surface Receptor FDF03 3 4
  • FDF03 2 3
  • Paired Immunoglobin-Like Type 2 Receptor Alpha 2
  • PILRA 5

External Ids for PILRA Gene

Previous GeneCards Identifiers for PILRA Gene

  • GC07P099568
  • GC07P099582
  • GC07P099615
  • GC07P099810
  • GC07P099965
  • GC07P094604

Summaries for PILRA Gene

Entrez Gene Summary for PILRA Gene

  • Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]

GeneCards Summary for PILRA Gene

PILRA (Paired Immunoglobin Like Type 2 Receptor Alpha) is a Protein Coding gene. Diseases associated with PILRA include Herpes Simplex and Asymptomatic Neurosyphilis. Among its related pathways are Herpes simplex virus 1 infection. An important paralog of this gene is PILRB.

UniProtKB/Swiss-Prot Summary for PILRA Gene

  • Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRA is thought to act as a cellular signaling inhibitory receptor by recruiting cytoplasmic phosphatases like PTPN6/SHP-1 and PTPN11/SHP-2 via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Receptor for PIANP.
  • (Microbial infection) Acts as an entry co-receptor for herpes simplex virus 1.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PILRA Gene

Genomics for PILRA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PILRA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J100371 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 694.7 +6.1 6099 3.9 PRDM10 ZNF143 RELA PATZ1 RAD21 IKZF2 TRIM22 EED MNT ZBTB20 PILRA ZCWPW1 MEPCE PVRIG STAG3 ENSG00000241357 PILRB LRCH4 SLC12A9 LAMTOR4
GH07J100364 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 688.7 +0.5 539 6.7 SP1 CREB1 PRDM10 POLR2A BACH1 JUND LARP7 ZNF143 PATZ1 TCF12 PILRA PILRB MEPCE AP4M1 SRRT PPP1R35 GIGYF1 ZCWPW1 ZSCAN25 MOSPD3
GH07J100358 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 676.6 -8.2 -8230 3.4 LARP7 RELA ZIC2 RBFOX2 RAD21 IKZF2 TRIM22 CTCF DPF2 RELB PILRA PILRB PVRIG GPC2 MIR6840 piR-42776 STAG3L5P-PVRIG2P-PILRB
GH07J100357 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.4 -10.1 -10108 0.1 MIR6840 PILRA piR-42776 PILRB STAG3L5P-PVRIG2P-PILRB
GH07J100335 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 76.4 -30.9 -30906 4.4 SP1 CREB1 PRDM10 ZNF629 IKZF1 ZNF692 POLR2A BACH1 JUND LARP7 STAG3L5P lnc-CASTOR3-3 STAG3L5P-PVRIG2P-PILRB PILRB PILRA ZSCAN25 ZNF3 ZNF655 TRIM4 PVRIG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PILRA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PILRA

Top Transcription factor binding sites by QIAGEN in the PILRA gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • MAZR
  • Pax-2
  • Pax-2a
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for PILRA Gene

Genomic Locations for PILRA Gene
chr7:100,367,530-100,400,098
(GRCh38/hg38)
Size:
32,569 bases
Orientation:
Plus strand
chr7:99,965,153-99,997,722
(GRCh37/hg19)
Size:
32,570 bases
Orientation:
Plus strand

Genomic View for PILRA Gene

Genes around PILRA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PILRA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PILRA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PILRA Gene

Proteins for PILRA Gene

  • Protein details for PILRA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKJ1-PILRA_HUMAN
    Recommended name:
    Paired immunoglobulin-like type 2 receptor alpha
    Protein Accession:
    Q9UKJ1
    Secondary Accessions:
    • Q8NHI1

    Protein attributes for PILRA Gene

    Size:
    303 amino acids
    Molecular mass:
    34005 Da
    Quaternary structure:
    • Monomer. Interacts with PTPN6/SHP-1 and PTPN11/SHP-2 upon tyrosine phosphorylation.
    • (Microbial infection) Interacts with herpes simplex virus 1 glycoprotein B.

    Three dimensional structures from OCA and Proteopedia for PILRA Gene

    Alternative splice isoforms for PILRA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PILRA Gene

Post-translational modifications for PILRA Gene

  • According to PubMed:10660620, N- and O-glycosylated. According to PubMed:10903717, only N-glycosylated.
  • Phosphorylated on tyrosine residues.
  • Glycosylation at Asn100
  • Modification sites at PhosphoSitePlus

Other Protein References for PILRA Gene

No data available for DME Specific Peptides for PILRA Gene

Domains & Families for PILRA Gene

Gene Families for PILRA Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for PILRA Gene

InterPro:
Blocks:
  • Immunoglobulin V-set
ProtoNet:

Suggested Antigen Peptide Sequences for PILRA Gene

GenScript: Design optimal peptide antigens:
  • Inhibitory receptor PILR-alpha (PILRA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKJ1

UniProtKB/Swiss-Prot:

PILRA_HUMAN :
  • Contains 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases. PTPN6 seems to bind predominantly to the first ITIM motif.
Domain:
  • Contains 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases. PTPN6 seems to bind predominantly to the first ITIM motif.
genes like me logo Genes that share domains with PILRA: view

Function for PILRA Gene

Molecular function for PILRA Gene

UniProtKB/Swiss-Prot Function:
Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRA is thought to act as a cellular signaling inhibitory receptor by recruiting cytoplasmic phosphatases like PTPN6/SHP-1 and PTPN11/SHP-2 via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Receptor for PIANP.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as an entry co-receptor for herpes simplex virus 1.

Phenotypes From GWAS Catalog for PILRA Gene

Gene Ontology (GO) - Molecular Function for PILRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10660620
GO:0042288 MHC class I protein binding IBA 21873635
genes like me logo Genes that share ontologies with PILRA: view
genes like me logo Genes that share phenotypes with PILRA: view

Animal Models for PILRA Gene

MGI Knock Outs for PILRA:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PILRA

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PILRA Gene

Localization for PILRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PILRA Gene

[Isoform 1]: Cell membrane. Single-pass type I membrane protein.
[Isoform 2]: Cell membrane. Single-pass type I membrane protein.
[Isoform 3]: Secreted.
[Isoform 4]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PILRA gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
mitochondrion 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for PILRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with PILRA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PILRA Gene

Pathways & Interactions for PILRA Gene

PathCards logo

SuperPathways for PILRA Gene

genes like me logo Genes that share pathways with PILRA: view

Pathways by source for PILRA Gene

1 KEGG pathway for PILRA Gene

Gene Ontology (GO) - Biological Process for PILRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IDA 10903717
GO:0016032 viral process IEA --
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with PILRA: view

No data available for SIGNOR curated interactions for PILRA Gene

Drugs & Compounds for PILRA Gene

No Compound Related Data Available

Transcripts for PILRA Gene

mRNA/cDNA for PILRA Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PILRA

Alternative Splicing Database (ASD) splice patterns (SP) for PILRA Gene

No ASD Table

Relevant External Links for PILRA Gene

GeneLoc Exon Structure for
PILRA

Expression for PILRA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PILRA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PILRA Gene

This gene is overexpressed in Whole Blood (x22.9).

Protein differential expression in normal tissues from HIPED for PILRA Gene

This gene is overexpressed in Monocytes (47.2) and Peripheral blood mononuclear cells (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PILRA Gene



Protein tissue co-expression partners for PILRA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PILRA

SOURCE GeneReport for Unigene cluster for PILRA Gene:

Hs.444407

mRNA Expression by UniProt/SwissProt for PILRA Gene:

Q9UKJ1-PILRA_HUMAN
Tissue specificity: Predominantly detected in hemopoietic tissues and is expressed by monocytes, macrophages, and granulocytes, but not by lymphocytes. Also strongly expressed by dendritic cells (DC); preferentially by CD14+/CD1a- DC derived from CD34+ progenitors. Also expressed by CD11c+ blood and tonsil DC, but not by CD11c- DC precursors.

Evidence on tissue expression from TISSUES for PILRA Gene

  • Liver(4.3)
  • Lung(4.2)
  • Blood(2.6)
  • Nervous system(2.4)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with PILRA: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PILRA Gene

Orthologs for PILRA Gene

This gene was present in the common ancestor of mammals.

Orthologs for PILRA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PILRA 30 31
  • 99.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC617785 30
  • 72.99 (n)
PILRA 31
  • 46 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia LOC100686271 30
  • 68.33 (n)
-- 31
  • 46 (a)
ManyToMany
-- 31
  • 45 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Pilra 30 17 31
  • 63.74 (n)
ManyToMany
Pilrb2 31
  • 41 (a)
ManyToMany
Pilrb1 31
  • 39 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia LOC100910669 30
  • 63.08 (n)
Species where no ortholog for PILRA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for PILRA Gene

ENSEMBL:
Gene Tree for PILRA (if available)
TreeFam:
Gene Tree for PILRA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PILRA: view image

Paralogs for PILRA Gene

Paralogs for PILRA Gene

(1) SIMAP similar genes for PILRA Gene using alignment to 3 proteins:

  • PILRA_HUMAN
  • C9JGG1_HUMAN
  • C9JJ79_HUMAN
genes like me logo Genes that share paralogs with PILRA: view

Variants for PILRA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PILRA Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs1859788 - p.Arg78Gly
rs34266222 - p.Ser279Leu

Additional dbSNP identifiers (rs#s) for PILRA Gene

Structural Variations from Database of Genomic Variants (DGV) for PILRA Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
esv2734891 CNV deletion 23290073
nsv831071 CNV loss 17160897

Variation tolerance for PILRA Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 16.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PILRA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PILRA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PILRA Gene

Disorders for PILRA Gene

MalaCards: The human disease database

(4) MalaCards diseases for PILRA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
herpes simplex
  • herpesvirus hominis disease
asymptomatic neurosyphilis
  • neurosyphilis
herpetic whitlow
  • herpetic felon
spermatogenic failure, y-linked, 2
  • spgfy2
- elite association - COSMIC cancer census association via MalaCards
Search PILRA in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PILRA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PILRA Gene

Publications for PILRA Gene

  1. PILRalpha, a novel immunoreceptor tyrosine-based inhibitory motif-bearing protein, recruits SHP-1 upon tyrosine phosphorylation and is paired with the truncated counterpart PILRbeta. (PMID: 10660620) Mousseau DD … Shen SH (The Journal of biological chemistry 2000) 2 3 4
  2. PANP is a novel O-glycosylated PILRα ligand expressed in neural tissues. (PMID: 21241660) Kogure A … Arase H (Biochemical and biophysical research communications 2011) 3 4
  3. Entry of herpes simplex virus 1 and other alphaherpesviruses via the paired immunoglobulin-like type 2 receptor alpha. (PMID: 19244335) Arii J … Kawaguchi Y (Journal of virology 2009) 3 23
  4. PILRalpha is a herpes simplex virus-1 entry coreceptor that associates with glycoprotein B. (PMID: 18358807) Satoh T … Arase H (Cell 2008) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for PILRA Gene

Sources for PILRA Gene