Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LILRB1 Gene

Aliases for LILRB1 Gene

  • Leukocyte Immunoglobulin Like Receptor B1 2 3 5
  • Leukocyte Immunoglobulin-Like Receptor, Subfamily B (With TM And ITIM Domains), Member 1 2 3
  • Monocyte/Macrophage Immunoglobulin-Like Receptor 7 3 4
  • CD85 Antigen-Like Family Member J 3 4
  • Myeloid Inhibitory Receptor 7 2 3
  • Leucocyte Ig-Like Receptor B1 2 3
  • ILT-2 3 4
  • LIR-1 3 4
  • MIR-7 3 4
  • ILT2 3 4
  • LIR1 3 4
  • MIR7 3 4
  • Leukocyte Immunoglobulin-Like Receptor Subfamily B Member 1 Soluble Isoform 3
  • Leukocyte Immunoglobulin-Like Receptor Subfamily B Member 1 3
  • Leukocyte Immunoglobulin-Like Receptor 1 4
  • Immunoglobulin-Like Transcript 2 4
  • Ig-Like Transcript 2 3
  • CD85j Antigen 4
  • CD85J 3
  • PIR-B 3
  • PIRB 3

External Ids for LILRB1 Gene

Previous GeneCards Identifiers for LILRB1 Gene

  • GC19P055947
  • GC19P055510
  • GC19P059761
  • GC19P059776
  • GC19P059820
  • GC19P055085
  • GC19P051451
  • GC19P054574

Summaries for LILRB1 Gene

Entrez Gene Summary for LILRB1 Gene

  • This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for LILRB1 Gene

LILRB1 (Leukocyte Immunoglobulin Like Receptor B1) is a Protein Coding gene. Diseases associated with LILRB1 include Bare Lymphocyte Syndrome, Type I and Malaria. Among its related pathways are Innate Immune System and Osteoclast differentiation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein phosphatase 1 binding. An important paralog of this gene is LILRB2.

UniProtKB/Swiss-Prot for LILRB1 Gene

  • Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inhibitory signals and down-regulation of the immune response. Engagement of LILRB1 present on natural killer cells or T-cells by class I MHC molecules protects the target cells from lysis. Interaction with HLA-B or HLA-E leads to inhibition of the signal triggered by FCER1A and inhibits serotonin release. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions.

Gene Wiki entry for LILRB1 Gene

Additional gene information for LILRB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LILRB1 Gene

Genomics for LILRB1 Gene

GeneHancer (GH) Regulatory Elements for LILRB1 Gene

Promoters and enhancers for LILRB1 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
GH19I054615 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 562.2 +0.3 308 2.8 HDGF PKNOX1 SMAD1 BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 LILRB1 LILRA2 LILRP2 LILRB2 LILRB1-AS1
GH19I054629 Promoter/Enhancer 0.9 EPDnew Ensembl ENCODE 561.6 +14.1 14071 2.4 LILRB1 KIR3DX1 LILRB2 LILRB1-AS1
GH19I054628 Promoter 0.5 EPDnew 550.4 +11.6 11566 0.1 LILRB1 KIR3DX1 EPS8L1 RDH13 LILRB1-AS1
GH19I054660 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 13.6 +45.4 45367 4.2 JUNB EBF1 DPF2 IRF4 SP1 BCL11A POLR2A TARDBP IKZF1 NFATC1 LILRB4 FCAR LAIR1 LILRB1 KIR3DX1 LILRB2 KIR2DL3 LILRA5 LILRB3 LILRA1
GH19I054199 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.2 -411.2 -411220 12.1 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 RPS9 PRPF31 LENG8 LENG8-AS1 CNOT3 ZNF525 ZNF845 ENSG00000235681 LILRB5 ZNF765
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LILRB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LILRB1 gene promoter:

Genomic Locations for LILRB1 Gene

Genomic Locations for LILRB1 Gene
chr19:54,616,930-54,638,167
(GRCh38/hg38)
Size:
21,238 bases
Orientation:
Plus strand
chr19:55,085,346-55,149,007
(GRCh37/hg19)

Genomic View for LILRB1 Gene

Genes around LILRB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LILRB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LILRB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LILRB1 Gene

Proteins for LILRB1 Gene

  • Protein details for LILRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHL6-LIRB1_HUMAN
    Recommended name:
    Leukocyte immunoglobulin-like receptor subfamily B member 1
    Protein Accession:
    Q8NHL6
    Secondary Accessions:
    • A2IXV4
    • A8MXT0
    • O75024
    • O75025
    • Q8NHJ9
    • Q8NHK0

    Protein attributes for LILRB1 Gene

    Size:
    650 amino acids
    Molecular mass:
    70819 Da
    Quaternary structure:
    • Binds PTPN6 when phosphorylated. Binds FCER1A and FCGR1A. Interacts with human cytomegalovirus/HHV-5 protein UL18.

    Three dimensional structures from OCA and Proteopedia for LILRB1 Gene

    Alternative splice isoforms for LILRB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LILRB1 Gene

Post-translational modifications for LILRB1 Gene

  • Phosphorylated on tyrosine residues. Dephosphorylated by PTPN6.
  • Glycosylation at isoforms=2, 3, 4, 5281, isoforms=2, 3, 4, 5302, and isoforms=2, 3, 4, 5341

No data available for DME Specific Peptides for LILRB1 Gene

Domains & Families for LILRB1 Gene

Gene Families for LILRB1 Gene

Suggested Antigen Peptide Sequences for LILRB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NHL6

UniProtKB/Swiss-Prot:

LIRB1_HUMAN :
  • Contains 4 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.
Domain:
  • Contains 4 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.
genes like me logo Genes that share domains with LILRB1: view

Function for LILRB1 Gene

Molecular function for LILRB1 Gene

GENATLAS Biochemistry:
leukocyte immunoglobulin-like receptor,subfamily B,member 1,expressed on monocytes,B cells,dentritic cells and natural killer cells,related to the Fc alpha receptor and natural killed inhibitory receptor superfamily,binding to MHC class I molecules A2,B44
UniProtKB/Swiss-Prot Function:
Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inhibitory signals and down-regulation of the immune response. Engagement of LILRB1 present on natural killer cells or T-cells by class I MHC molecules protects the target cells from lysis. Interaction with HLA-B or HLA-E leads to inhibition of the signal triggered by FCER1A and inhibits serotonin release. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions.

Phenotypes From GWAS Catalog for LILRB1 Gene

Gene Ontology (GO) - Molecular Function for LILRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 NOT amyloid-beta binding IDA 24052308
GO:0005515 protein binding IPI 18802077
GO:0008157 protein phosphatase 1 binding IPI 9285411
GO:0030107 HLA-A specific inhibitory MHC class I receptor activity IDA 18684926
GO:0030109 HLA-B specific inhibitory MHC class I receptor activity IDA 11907092
genes like me logo Genes that share ontologies with LILRB1: view
genes like me logo Genes that share phenotypes with LILRB1: view

Clone Products

  • R&D Systems cDNA Clones for LILRB1 (LILRB1/CD85j/ILT2)

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LILRB1 Gene

Localization for LILRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LILRB1 Gene

Cell membrane; Single-pass type I membrane protein.
Isoform 5: 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 LILRB1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for LILRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IDA 15585844
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IDA 9285411
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LILRB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LILRB1 Gene

Pathways & Interactions for LILRB1 Gene

genes like me logo Genes that share pathways with LILRB1: view

Pathways by source for LILRB1 Gene

1 Cell Signaling Technology pathway for LILRB1 Gene
1 KEGG pathway for LILRB1 Gene

Interacting Proteins for LILRB1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000315997%0d%0a9606.ENSP00000366005%0d%0a9606.ENSP00000452780%0d%0a9606.ENSP00000271450%0d%0a9606.ENSP00000356946%0d%0a9606.ENSP00000351497%0d%0a
Selected Interacting proteins: ENSP00000315997 Q8NHL6-LIRB1_HUMAN for LILRB1 Gene via STRING UniProtKB IID MINT

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
CSK
HLA-G

SIGNOR curated interactions for LILRB1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LILRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001915 negative regulation of T cell mediated cytotoxicity IDA 21213105
GO:0002230 positive regulation of defense response to virus by host IDA 18398485
GO:0002250 adaptive immune response IEA --
GO:0002309 T cell proliferation involved in immune response IDA 18094328
GO:0002740 negative regulation of cytokine secretion involved in immune response IDA 18094328
genes like me logo Genes that share ontologies with LILRB1: view

Drugs & Compounds for LILRB1 Gene

(3) Drugs for LILRB1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with LILRB1: view

Transcripts for LILRB1 Gene

mRNA/cDNA for LILRB1 Gene

(22) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LILRB1 Gene

Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1:
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for LILRB1 (LILRB1/CD85j/ILT2)

Alternative Splicing Database (ASD) splice patterns (SP) for LILRB1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for LILRB1 Gene

GeneLoc Exon Structure for
LILRB1
ECgene alternative splicing isoforms for
LILRB1

Expression for LILRB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LILRB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LILRB1 Gene

This gene is overexpressed in Spleen (x11.7) and Whole Blood (x9.5).

Protein differential expression in normal tissues from HIPED for LILRB1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (39.2) and Monocytes (17.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LILRB1 Gene



Protein tissue co-expression partners for LILRB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LILRB1 Gene:

LILRB1

SOURCE GeneReport for Unigene cluster for LILRB1 Gene:

Hs.667388

mRNA Expression by UniProt/SwissProt for LILRB1 Gene:

Q8NHL6-LIRB1_HUMAN
Tissue specificity: Expressed predominantly on B-cells and monocytes, and at lower levels on dendritic cells. Detected on a low percentage of T-cells and natural killer (NK) cells.

Evidence on tissue expression from TISSUES for LILRB1 Gene

  • Blood(4.5)
  • Spleen(2.6)
genes like me logo Genes that share expression patterns with LILRB1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LILRB1 Gene

Orthologs for LILRB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LILRB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LILRB1 33
  • 92.7 (n)
LIRC 34
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 34
  • 60 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 51 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Pira2 34
  • 32 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 19 (a)
OneToMany
Species where no ortholog for LILRB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 LILRB1 Gene

ENSEMBL:
Gene Tree for LILRB1 (if available)
TreeFam:
Gene Tree for LILRB1 (if available)

Paralogs for LILRB1 Gene

genes like me logo Genes that share paralogs with LILRB1: view

Variants for LILRB1 Gene

Sequence variations from dbSNP and Humsavar for LILRB1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000167574 -- 54,637,551(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000204124 -- 54,636,229(+) A/C genic_downstream_transcript_variant, intron_variant
rs1000477238 -- 54,616,041(+) C/A upstream_transcript_variant
rs1000506271 -- 54,626,954(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000857255 -- 54,638,320(+) A/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LILRB1 Gene

Variant ID Type Subtype PubMed ID
nsv9760 CNV loss 18304495
nsv963081 CNV duplication 23825009
nsv828639 CNV loss 20364138
nsv817871 CNV loss 17921354
nsv580242 CNV gain 21841781
nsv580241 CNV loss 21841781
nsv580240 CNV gain 21841781
nsv523723 CNV loss 19592680
nsv522872 CNV loss 19592680
nsv516569 CNV gain+loss 19592680
nsv470159 CNV gain 18288195
nsv470158 CNV loss 18288195
nsv458799 CNV gain 19166990
nsv428372 CNV gain+loss 18775914
nsv1160664 CNV deletion 26073780
nsv1148744 OTHER inversion 26484159
nsv1065887 CNV loss 25217958
nsv1061739 CNV gain+loss 25217958
esv3644812 CNV loss 21293372
esv2762051 CNV loss 21179565
esv2758771 CNV gain+loss 17122850
esv2718879 CNV deletion 23290073
esv2718872 CNV deletion 23290073
esv2667609 CNV deletion 23128226
dgv6563n54 CNV loss 21841781
dgv435n27 CNV loss 19166990
dgv17e196 CNV deletion 17116639
dgv16e196 CNV duplication 17116639

Variation tolerance for LILRB1 Gene

Residual Variation Intolerance Score: 99.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.26; 76.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LILRB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LILRB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LILRB1 Gene

Disorders for LILRB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LILRB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type i
  • bls, type i
malaria
  • malaria, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LILRB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LILRB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LILRB1 Gene

Publications for LILRB1 Gene

  1. A novel immunoglobulin superfamily receptor for cellular and viral MHC class I molecules. (PMID: 9285411) Cosman D … Hsu ML (Immunity 1997) 2 3 4 22 58
  2. Extensive polymorphisms of LILRB1 (ILT2, LIR1) and their association with HLA-DRB1 shared epitope negative rheumatoid arthritis. (PMID: 16014635) Kuroki K … Tokunaga K (Human molecular genetics 2005) 3 22 44 58
  3. Crystal structure and ligand binding properties of the D1D2 region of the inhibitory receptor LIR-1 (ILT2). (PMID: 11114384) Chapman TL … Bjorkman PJ (Immunity 2000) 3 4 22 58
  4. Genomic organization of the human leukocyte immunoglobulin-like receptors within the leukocyte receptor complex on chromosome 19q13.4. (PMID: 10941837) Liu WR … Arm JP (Immunogenetics 2000) 3 4 22 58
  5. The inhibitory receptor LIR-1 uses a common binding interaction to recognize class I MHC molecules and the viral homolog UL18. (PMID: 10591185) Chapman TL … Bjorkman PJ (Immunity 1999) 3 4 22 58

Products for LILRB1 Gene

Sources for LILRB1 Gene

Content
Loading form....