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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 T Cell Co-Signaling Pathway: Ligand-Receptor Interactions and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. 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 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around LAIR1 on UCSC Golden Path with GeneCards custom track

Promoters for LAIR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

No data available for DME Specific Peptides for LAIR1 Gene

Domains & Families for LAIR1 Gene

Protein Domains for LAIR1 Gene

InterPro:
ProtoNet:

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.
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for LAIR1 Gene COMPARTMENTS Subcellular localization image for LAIR1 gene
Compartment Confidence
extracellular 3
plasma membrane 3
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LAIR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
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: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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with LAIR1: view

Primer Products

Orthologs for LAIR1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for LAIR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LAIR1 34
  • 69.48 (n)
  • 55.94 (a)
-- 35
  • 50 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LAIR1 34
  • 70.53 (n)
  • 54.05 (a)
-- 35
  • 51 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Lair1 34
  • 61.63 (n)
  • 47.67 (a)
Lair1 16
Lair1 35
  • 43 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia LAIR1 34
  • 98.6 (n)
  • 97.55 (a)
LAIR1 35
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lair1 34
  • 60.62 (n)
  • 46.72 (a)
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

Pseudogenes.org Pseudogenes 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
VAR_027598 -
rs10425360 -- 54,353,126(+) ATTGC(A/C)CTCCA downstream-variant-500B
rs79575870 -- 54,353,166(+) TCAAA(A/G)AAAAA downstream-variant-500B
rs112993549 -- 54,353,287(+) AAAAT(C/T)GGTCA downstream-variant-500B
rs57681745 -- 54,353,177(+) AAAAA(-/AAA)GAGAG 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
  • cebv
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 65
  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 65
  3. 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 65
  4. 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 65
  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 65

Products for LAIR1 Gene

Sources for LAIR1 Gene

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