The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps t... See more...

Aliases for LAIR1 Gene

Aliases for LAIR1 Gene

  • Leukocyte Associated Immunoglobulin Like Receptor 1 2 3 5
  • Leukocyte-Associated Immunoglobulin-Like Receptor 1 2 3 4
  • Leukocyte-Associated Ig-Like Receptor 1 2 3
  • LAIR-1 3 4
  • CD305 3 4
  • Immunoglobulin Heavy Chain Variable Region 3
  • CD305 Antigen 4
  • HLAIR1 4

External Ids for LAIR1 Gene

Previous GeneCards Identifiers for LAIR1 Gene

  • GC19M055728
  • GC19M055289
  • GC19M059541
  • GC19M059557
  • GC19M054865
  • GC19M051187

Summaries for LAIR1 Gene

Entrez Gene Summary for LAIR1 Gene

  • The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for LAIR1 Gene

LAIR1 (Leukocyte Associated Immunoglobulin Like Receptor 1) is a Protein Coding gene. Diseases associated with LAIR1 include Chronic Active Epstein-Barr Virus Infection. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation.

UniProtKB/Swiss-Prot Summary for LAIR1 Gene

  • Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down-regulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Down-regulates also IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells.

Gene Wiki entry for LAIR1 Gene

Additional gene information for LAIR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAIR1 Gene

Genomics for LAIR1 Gene

GeneHancer (GH) Regulatory Elements for LAIR1 Gene

Promoters and enhancers for LAIR1 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
GH19J054369 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 500.7 +0.5 548 3.2 AFF1 CTBP1 MYC ZNF316 TRIM24 CEBPG ARNT POLR2H NBN ZNF395 LAIR1 lnc-LILRA4-3
GH19J054360 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 500.4 +7.5 7523 5.7 CEBPG SPI1 IKZF1 REST ZNF146 EZH2 HDGF THRB POLR2A NR2F6 LAIR1 RDH13 lnc-LILRA4-2 NONHSAG026517.2
GH19J054368 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 512.5 -2.0 -1960 1.3 GABPA SPI1 IKZF1 POLR2A ZNF217 BHLHE40 EED MLLT1 RELB LAIR1 OSCAR LILRA5 LILRB2 VSTM1 LILRB3 LILRB4 LILRA2 LILRB1 LILRA1
GH19J054373 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 22.1 -4.4 -4359 2.7 RELA MEF2C TRIM22 ZNF316 CBFB ZNF384 MAFF CEBPG MAFK ARNT FCAR LAIR1 LILRB2 OSCAR LILRA5 VSTM1 LILRB3 LILRB4 LILRB1 LILRA2
GH19J054661 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 13.6 -292.0 -292023 3.6 SP1 EP300 POLR2A BCL11A MEF2B WRNIP1 IRF4 EBF1 IKZF1 TBP LILRB4 FCAR LAIR1 KIR3DX1 LILRB2 KIR2DL3 LILRB1 LILRA5 LILRB3 LILRA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAIR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAIR1

Top Transcription factor binding sites by QIAGEN in the LAIR1 gene promoter:
  • ATF
  • ATF-2
  • Bach1
  • CRE-BP1
  • LCR-F1
  • Pax-4a
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for LAIR1 Gene

Genomic Locations for LAIR1 Gene
chr19:54,351,384-54,370,558
(GRCh38/hg38)
Size:
19,175 bases
Orientation:
Minus strand
chr19:54,865,235-54,882,165
(GRCh37/hg19)
Size:
16,931 bases
Orientation:
Minus strand

Genomic View for LAIR1 Gene

Genes around LAIR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAIR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAIR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAIR1 Gene

Proteins for LAIR1 Gene

  • Protein details for LAIR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6GTX8-LAIR1_HUMAN
    Recommended name:
    Leukocyte-associated immunoglobulin-like receptor 1
    Protein Accession:
    Q6GTX8

    Protein attributes for LAIR1 Gene

    Size:
    287 amino acids
    Molecular mass:
    31412 Da
    Quaternary structure:
    • Interacts with SH2 domains of tyrosine-protein phosphatases PTPN6 and PTPN11. The interaction with PTPN6 is constitutive. Interacts with the SH2 domain of CSK. Binds with high affinity to extracellular matrix collagens, the interaction is functionally important.
    Miscellaneous:
    • [Isoform 2]: Functions as an inhibitory receptor in NK cells and T-cells.

    Three dimensional structures from OCA and Proteopedia for LAIR1 Gene

    Alternative splice isoforms for LAIR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAIR1 Gene

Post-translational modifications for LAIR1 Gene

  • Phosphorylation at Tyr-251 and Tyr-281 activates it. May be phosphorylated by LCK.
  • N-glycosylated.
  • Glycosylation at Asn69
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LAIR1_HUMAN (1998)

Antibody Products

  • Abcam antibodies for LAIR1

No data available for DME Specific Peptides for LAIR1 Gene

Domains & Families for LAIR1 Gene

Gene Families for LAIR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LAIR1 Gene

Suggested Antigen Peptide Sequences for LAIR1 Gene

GenScript: Design optimal peptide antigens:
  • Leukocyte-associated immunoglobulin-like receptor 1 (LAIR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6GTX8

UniProtKB/Swiss-Prot:

LAIR1_HUMAN :
  • ITIM (immunoreceptor tyrosine-based inhibitor motif) motif is a cytoplasmic motif present in 2 copies in the intracellular part of LAIR1. When phosphorylated, ITIM motif can bind the SH2 domain of several SH2-containing phosphatases, leading to down-regulation of cell activation.
Domain:
  • ITIM (immunoreceptor tyrosine-based inhibitor motif) motif is a cytoplasmic motif present in 2 copies in the intracellular part of LAIR1. When phosphorylated, ITIM motif can bind the SH2 domain of several SH2-containing phosphatases, leading to down-regulation of cell activation.
genes like me logo Genes that share domains with LAIR1: view

Function for LAIR1 Gene

Molecular function for LAIR1 Gene

UniProtKB/Swiss-Prot Function:
Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down-regulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Down-regulates also IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells.
UniProtKB/Swiss-Prot Induction:
By T-cell receptor stimulation in a process that requires p38 MAP kinase and ERK signaling.
GENATLAS Biochemistry:
leukocyte-associated immunoglobulin-like receptor 1,32kDa,expressed in monocytes

Phenotypes From GWAS Catalog for LAIR1 Gene

Gene Ontology (GO) - Molecular Function for LAIR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10660620
genes like me logo Genes that share ontologies with LAIR1: view
genes like me logo Genes that share phenotypes with LAIR1: view

Animal Models for LAIR1 Gene

MGI Knock Outs for LAIR1:

Animal Model Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAIR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LAIR1 Gene

Localization for LAIR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAIR1 Gene

Cell membrane; Single-pass type I membrane protein.

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 LAIR1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAIR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035579 specific granule membrane TAS --
GO:0070821 tertiary granule membrane TAS --
genes like me logo Genes that share ontologies with LAIR1: view

Pathways & Interactions for LAIR1 Gene

genes like me logo Genes that share pathways with LAIR1: view

Gene Ontology (GO) - Biological Process for LAIR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with LAIR1: view

No data available for SIGNOR curated interactions for LAIR1 Gene

Drugs & Compounds for LAIR1 Gene

(2) Drugs for LAIR1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with LAIR1: view

Transcripts for LAIR1 Gene

mRNA/cDNA for LAIR1 Gene

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAIR1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAIR1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e · 11f
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - - -
SP6: - - - -
SP7: - - - - -
SP8: -
SP9: -
SP10: - - -
SP11: -
SP12: - - - - - - -
SP13: - -
SP14: -
SP15: - -
SP16:

Relevant External Links for LAIR1 Gene

GeneLoc Exon Structure for
LAIR1

Expression for LAIR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAIR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAIR1 Gene

This gene is overexpressed in Whole Blood (x13.8) and Spleen (x5.0).

Protein differential expression in normal tissues from HIPED for LAIR1 Gene

This gene is overexpressed in Urine (46.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LAIR1 Gene



Protein tissue co-expression partners for LAIR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAIR1

SOURCE GeneReport for Unigene cluster for LAIR1 Gene:

Hs.572535

mRNA Expression by UniProt/SwissProt for LAIR1 Gene:

Q6GTX8-LAIR1_HUMAN
Tissue specificity: Expressed on the majority of peripheral mononuclear cells, including natural killer (NK) cells, T-cells, B-cells, monocytes, and dendritic cells. Highly expressed in naive T-cells and B-cells but no expression on germinal center B-cells. Abnormally low expression in naive B-cells from HIV-1 infected patients. Very low expression in NK cells from a patient with chronic active Epstein-Barr virus infection.

Evidence on tissue expression from TISSUES for LAIR1 Gene

  • Pancreas(4)
  • Blood(3.1)
  • Lymph node(2.6)
  • Bone marrow(2.5)
  • Spleen(2.5)
genes like me logo Genes that share expression patterns with LAIR1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LAIR1 Gene

Orthologs for LAIR1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for LAIR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAIR1 31 30
  • 98.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LAIR1 30
  • 70.53 (n)
-- 31
  • 51 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LAIR1 30
  • 69.48 (n)
-- 31
  • 50 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Lair1 17 31 30
  • 61.63 (n)
rat
(Rattus norvegicus)
Mammalia Lair1 30
  • 60.62 (n)
Species where no ortholog for LAIR1 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)
  • 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 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 LAIR1 Gene

ENSEMBL:
Gene Tree for LAIR1 (if available)
TreeFam:
Gene Tree for LAIR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAIR1: view image

Paralogs for LAIR1 Gene

(9) SIMAP similar genes for LAIR1 Gene using alignment to 9 proteins:

  • LAIR1_HUMAN
  • A8MZ84_HUMAN
  • C9IZB2_HUMAN
  • D3YTC8_HUMAN
  • F2Z2I1_HUMAN
  • F2Z3B9_HUMAN
  • F8WC07_HUMAN
  • H7C030_HUMAN
  • W4VSQ5_HUMAN
genes like me logo Genes that share paralogs with LAIR1: view

No data available for Paralogs for LAIR1 Gene

Variants for LAIR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAIR1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs3745442 - p.Glu63Asp

Additional dbSNP identifiers (rs#s) for LAIR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for LAIR1 Gene

Variant ID Type Subtype PubMed ID
dgv3663n100 CNV gain 25217958
esv2758771 CNV gain+loss 17122850
esv3644801 CNV loss 21293372
esv3644802 CNV loss 21293372
esv3644805 CNV loss 21293372
esv3644806 CNV loss 21293372
nsv1148744 OTHER inversion 26484159
nsv428371 CNV gain+loss 18775914
nsv527908 CNV gain 19592680
nsv833878 CNV loss 17160897
nsv960873 CNV duplication 23825009
nsv963079 CNV duplication 23825009

Variation tolerance for LAIR1 Gene

Residual Variation Intolerance Score: 75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAIR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAIR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAIR1 Gene

Disorders for LAIR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LAIR1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
chronic active epstein-barr virus infection
  • caebv infection
- elite association - COSMIC cancer census association via MalaCards
Search LAIR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LAIR1

genes like me logo Genes that share disorders with LAIR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LAIR1 Gene

Publications for LAIR1 Gene

  1. LAIR-1, a novel inhibitory receptor expressed on human mononuclear leukocytes. (PMID: 9285412) Meyaard L … Phillips JH (Immunity 1997) 2 3 4 23 54
  2. Crystal structure and collagen-binding site of immune inhibitory receptor LAIR-1: unexpected implications for collagen binding by platelet receptor GPVI. (PMID: 20007810) Brondijk TH … Huizinga EG (Blood 2010) 3 4 23 54
  3. The inhibitory leukocyte-associated Ig-like receptor-1 (LAIR-1) is expressed at high levels by human naive T cells and inhibits TCR mediated activation. (PMID: 15950745) Maasho K … Borrego F (Molecular immunology 2005) 3 4 23 54
  4. Inhibitory receptors CD85j, LAIR-1, and CD152 down-regulate immunoglobulin and cytokine production by human B lymphocytes. (PMID: 15939744) Merlo A … Saverino D (Clinical and diagnostic laboratory immunology 2005) 3 4 23 54
  5. Mechanisms of hypergammaglobulinemia and impaired antigen-specific humoral immunity in HIV-1 infection. (PMID: 14604962) De Milito A … Chiodi F (Blood 2004) 3 4 23 54

Products for LAIR1 Gene

Sources for LAIR1 Gene