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    LILRA3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 [ Homo sapiens ]

    Gene ID: 11026, updated on 11-May-2012
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    Summary

    Official Symbol
    LILRA3provided by HGNC
    Official Full Name
    leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3provided by HGNC
    Primary source
    HGNC:6604
    Locus tag
    XXbac-BCX403H19.1
    See related
    Ensembl:ENSG00000170866; HPRD:10382; MIM:604818; Vega:OTTHUMG00000065358
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    e3; HM31; HM43; ILT6; LIR4; CD85E; LIR-4
    Summary
    Leukocyte Ig-like receptors (LIRs) are a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. All LIRs in subfamily B have an inhibitory function (see, e.g., LILRB1, MIM 604811). LIRs in subfamily A, with short cytoplasmic domains lacking an immunoreceptor tyrosine-based inhibitory motif (ITIM) and with transmembrane regions containing a charged arginine residue, may initiate stimulatory cascades (see LILRA1, MIM 604810). One member of subfamily A (LILRA3) lacks a transmembrane region and is presumed to be a soluble receptor (Borges et al., 1997 [PubMed 9548455]).[supplied by OMIM, Mar 2008]
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    Genomic context

    Location :
    19q13.4
    Sequence :
    Chromosome: 19; NC_000019.9 (54799854..54804265, complement)
    See LILRA3 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 Neighboring gene microRNA 4752 Neighboring gene leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 pseudogene Neighboring gene leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 Neighboring gene vomeronasal 1 receptor 104 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Effects of chronic ascariasis and trichuriasis on cytokine production and gene expression in human blood: a cross-sectional study. Reina Ortiz M, et al. PLoS Negl Trop Dis, 2011 Jun. PMID 21666788.
    2. LILRA3 binds both classical and non-classical HLA class I molecules but with reduced affinities compared to LILRB1/LILRB2: structural evidence. Ryu M, et al. PLoS One, 2011 Apr 29. PMID 21559424.
    3. HLA class I allelic sequence and conformation regulate leukocyte Ig-like receptor binding. Jones DC, et al. J Immunol, 2011 Mar 1. PMID 21270408.
    4. Soluble LILRA3, a potential natural antiinflammatory protein, is increased in patients with rheumatoid arthritis and is tightly regulated by interleukin 10, tumor necrosis factor-alpha, and interferon-gamma. An H, et al. J Rheumatol, 2010 Aug 1. PMID 20595277.
    5. Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus. Mosbruger TL, et al. J Infect Dis, 2010 May 1. PMID 20331378.

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. LILRA3 binds both classical and non-classical HLA class I molecules but with reduced affinities compared to LILRB1/LILRB2
      Title: LILRA3 binds both classical and non-classical HLA class I molecules but with reduced affinities compared to LILRB1/LILRB2: structural evidence.
    2. LILRA1 and LILRA3 generally display a greater binding preference for binding to HLA-C free heavy chain, particularly following removal of beta2-microglobulin by acid treatment.
      Title: HLA class I allelic sequence and conformation regulate leukocyte Ig-like receptor binding.
    3. These results suggest that LILRA3 may play a role in chronic inflammatory conditions such as rheumatoid arthritis.
      Title: Soluble LILRA3, a potential natural antiinflammatory protein, is increased in patients with rheumatoid arthritis and is tightly regulated by interleukin 10, tumor necrosis factor-alpha, and interferon-gamma.
    4. ILT6 deficiency may be a genetic risk factor for Sjogren's syndrome.
      Title: Association of immunoglobulin-like transcript 6 deficiency with Sjögren's syndrome.
    5. Multiple sclerosis associates with LILRA3 deletion.
      Title: Multiple sclerosis associates with LILRA3 deletion in Spanish patients.
    6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Multiple sclerosis associates with LILRA3 deletion in Spanish patients.
    7. our results suggest that both the nonfunctional LILRA3 alleles and the low-expressing LILRB2 alleles identified in our study have increased in Northeast Asians because of natural selection.
      Title: Evidence for natural selection on leukocyte immunoglobulin-like receptors for HLA class I in Northeast Asians.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus.
    9. A deletion of LILRA3 gene was found in a minority of British population
      Title: Distribution of LILRA3 (ILT6/LIR4) deletion in psoriatic patients and healthy controls.
    10. Six alleles characterised, of which four will encode unique peptides, one of which is likely to directly influence ligand binding.
      Title: DNA sequence variation and molecular genotyping of natural killer leukocyte immunoglobulin-like receptor, LILRA3.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q8N6C8 Q01844 EWSR1    HPRD  PubMed  
    BioGRID:116216 BioGRID:108431 EWSR1    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Pathways from BioSystems

    • Osteoclast differentiation, organism-specific biosystem (from KEGG)
      Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Osteoclast differentiation, conserved biosystem (from KEGG)
      Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    antigen binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    defense response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    leukocyte immunoglobulin-like receptor subfamily A member 3
    Names
    leukocyte immunoglobulin-like receptor subfamily A member 3
    ILT-6
    immunoglobulin-like transcript 6
    CD85 antigen-like family member E
    leucocyte immunoglobulin-like receptor
    monocyte inhibitory receptor HM43/HM31
    leukocyte immunoglobulin-like receptor 4
    leukocyte immunoglobulin-like receptor A3
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001172654.1 → NP_001166125.1  leukocyte immunoglobulin-like receptor subfamily A member 3 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AF014924, BC028208, BX280714
      Consensus CDS
      CCDS54317.1
      UniProtKB/Swiss-Prot
      Q8N6C8
      Related
      ENSP00000375624, OTTHUMP00000067956, ENST00000391744, OTTHUMT00000140237
      Conserved Domains (2) summary
      cd05751
      Location:27 – 119
      Blast Score: 327
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
      cl11960
      Location:261 – 355
      Blast Score: 271
      Ig; Immunoglobulin domain

    2. NM_006865.3 → NP_006856.3  leukocyte immunoglobulin-like receptor subfamily A member 3 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF014923, AF025527, BC028208
      Consensus CDS
      CCDS12887.1
      UniProtKB/Swiss-Prot
      Q8N6C8
      Related
      ENSP00000251390, OTTHUMP00000067955, ENST00000251390, OTTHUMT00000140236
      Conserved Domains (2) summary
      cd05751
      Location:27 – 119
      Blast Score: 324
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
      cl11960
      Location:124 – 219
      Blast Score: 287
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      54799854..54804265, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 PATCHES

    Genomic

    1. NW_003571054.1 Reference GRCh37.p5 PATCHES

      Range
      270739..275150, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 PATCHES

    Genomic

    1. NW_003571055.1 Reference GRCh37.p5 PATCHES

      Range
      270619..275030, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 PATCHES

    Genomic

    1. NW_003571061.1 Reference GRCh37.p5 PATCHES

      Range
      270994..275405, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. NW_001841131.1 Alternate HuRef

      Range
      2970..4569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC010518.7 (27201..31585) None
    genomic AF353733.1 AAK58867.1
    genomic AF482762.1 AAM18035.1
    genomic AF482763.1 AAM18036.1
    genomic AF482764.1 AAM18037.1
    genomic AF482765.1 AAM18038.1
    genomic AF482766.1 AAM18039.1
    genomic AF482767.1 AAM18040.1
    genomic AF482768.1 AAM18041.1
    genomic AF482769.1 AAM18042.1
    genomic CH471135.1 EAW72225.1
    genomic CU104682.1 CAQ09386.1
    genomic CU467018.4 CAP58440.1
    mRNA AF014923.1 AAC51885.1
    mRNA AF014924.1 AAC51886.1
    mRNA AF025527.1 AAB87661.1
    mRNA BC028208.1 AAH28208.1
    mRNA BX280714.1 None
    mRNA U91926.1 AAB68666.1
    mRNA U91927.1 AAB68667.1
    other-genetic DQ891075.2 ABM82001.1
    other-genetic DQ894258.2 ABM85184.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6C8.3 GenPept UniProtKB/Swiss-Prot:Q8N6C8
    Q8NHJ5 GenPept UniProtKB/TrEMBL:Q8NHJ5
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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