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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
  • 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 and Palindromic Rheumatism. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Natural Killer Cell Receptors: Human Target Cell – NK Cell Ligand-Receptor Interactions. An important paralog of this gene is LAIR2.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAIR1 Gene

Genomics for LAIR1 Gene

Regulatory Elements for LAIR1 Gene

Enhancers for LAIR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G054368 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.1 -2.3 -2278 8.9 HDGF PKNOX1 YY1 ZNF766 ZNF143 JUNB REST TBX21 MAFF ATF4 FCAR LAIR1 LILRB2 OSCAR LILRA5 VSTM1 LILRB3 LILRB4 LILRB1 LILRA2
GH19G054270 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.7 +98.7 98658 2.2 ZNF777 ZNF316 PKNOX1 ZNF114 CUX1 NFE2 ZNF112 LAIR1 LILRB2 OSCAR MYADM LILRB3 LILRB1 LILRA5 VSTM1 LILRB4 NLRP12
GH19G054282 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +87.6 87609 1.1 KLF1 POLR2A NRF1 IKZF1 LILRB3 LAIR1 LILRA6 LILRB5 ENSG00000249189 OSCAR MYADM LILRB2 VSTM1 LILRB1
GH19G054660 1.6 FANTOM5 Ensembl ENCODE 13.6 -291.7 -291739 4.2 HDGF ATF1 PKNOX1 CREB3L1 ARNT WRNIP1 SIN3A GLI4 GLIS2 FOS LILRB4 FCAR LAIR1 LILRB1 KIR3DX1 LILRB2 KIR2DL3 LILRA5 LILRB3 LILRA1
GH19G054318 1.3 FANTOM5 Ensembl ENCODE 16.4 +51.5 51458 1.0 MTA2 RNF2 CEBPG TBX21 ATF2 ATF3 IKZF1 TARDBP EED NBN LILRB2 LILRB3 LAIR1 LILRA6 TTYH1 ENSG00000227407 LILRB5 ENSG00000249189 CNOT3 ENSG00000237017
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LAIR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LAIR1 Gene

Chromosome:
19
Start:
54,351,384 bp from pter
End:
54,370,558 bp from pter
Size:
19,175 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.

    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

Antibody Products

  • Cloud-Clone Corp. Antibodies for LAIR1

Protein Products

Assay Products

  • Cloud-Clone Corp Assay Kits for LAIR1

No data available for DME Specific Peptides for LAIR1 Gene

Domains & Families for LAIR1 Gene

Protein Domains for LAIR1 Gene

Suggested Antigen Peptide Sequences for LAIR1 Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
leukocyte-associated immunoglobulin-like receptor 1,32kDa,expressed in monocytes
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.

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

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 5
lysosome 1

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:0070062 extracellular exosome IDA 23376485
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 Nutra 0
genes like me logo Genes that share compounds with LAIR1: view

Transcripts for LAIR1 Gene

Unigene Clusters for LAIR1 Gene

Leukocyte-associated immunoglobulin-like receptor 1:
Representative Sequences:

Inhibitory RNA 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
ECgene alternative splicing isoforms for
LAIR1

Expression for LAIR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for LAIR1 Gene



Protein tissue co-expression partners for LAIR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LAIR1 Gene:

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

Primer Products

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 34 35
  • 98.6 (n)
dog
(Canis familiaris)
Mammalia LAIR1 34
  • 70.53 (n)
-- 35
  • 51 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LAIR1 34
  • 69.48 (n)
-- 35
  • 50 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Lair1 34 16 35
  • 61.63 (n)
rat
(Rattus norvegicus)
Mammalia Lair1 34
  • 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)

Paralogs for LAIR1 Gene

Paralogs for LAIR1 Gene

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

Variants for LAIR1 Gene

Sequence variations from dbSNP and Humsavar for LAIR1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1001513622 -- 54,353,329(+) GTACA(A/G)CACTG downstream-variant-500B
rs1001692388 -- 54,353,276(+) GAAGA(A/T)CAGGG downstream-variant-500B
rs1001744904 -- 54,353,646(+) TTTAA(C/T)GTGTC nc-transcript-variant, utr-variant-3-prime
rs1008421522 -- 54,353,704(+) GCTGA(C/G)TTTTT nc-transcript-variant, utr-variant-3-prime
rs1010274899 -- 54,353,274(+) GTGAA(G/T)AACAG downstream-variant-500B

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)

Relevant External Links for LAIR1 Gene

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

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

Disorders for LAIR1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LAIR1 Gene - From: DISEASES and GeneCards

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

Relevant External Links for LAIR1

Human Genome Epidemiology (HuGE) Navigator
LAIR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.H. (Immunity 1997) 2 3 4 22 64
  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 T.H. … Huizinga E.G. (Blood 2010) 3 4 22 64
  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. (Mol. Immunol. 2005) 3 4 22 64
  4. Inhibitory receptors CD85j, LAIR-1, and CD152 down-regulate immunoglobulin and cytokine production by human B lymphocytes. (PMID: 15939744) Merlo A. … Saverino D. (Clin. Diagn. Lab. Immunol. 2005) 3 4 22 64
  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 22 64

Products for LAIR1 Gene

Sources for LAIR1 Gene

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