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    LAIR1 leukocyte associated immunoglobulin like receptor 1 [ Homo sapiens (human) ]

    Gene ID: 3903, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LAIR1provided by HGNC
    Official Full Name
    leukocyte associated immunoglobulin like receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:6477
    See related
    Ensembl:ENSG00000167613 MIM:602992; AllianceGenome:HGNC:6477
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CD305; LAIR-1
    Summary
    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]
    Expression
    Broad expression in bone marrow (RPKM 19.6), appendix (RPKM 16.8) and 17 other tissues See more
    Orthologs
    all
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    Genomic context

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    See LAIR1 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54351384..54376088, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57442896..57466925, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54862991..54882165, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7396 Neighboring gene vomeronasal 1 receptor 104 pseudogene Neighboring gene MPRA-validated peak3554 silencer Neighboring gene leukocyte immunoglobulin like receptor A4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54868647-54869166 Neighboring gene NANOG hESC enhancer GRCh37_chr19:54903053-54903600 Neighboring gene LIM domain-containing protein A-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54933359-54934162 Neighboring gene tweety family member 1 Neighboring gene Sharpr-MPRA regulatory region 3780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54960127-54961034 Neighboring gene LENG8 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Defective expression and function of the leukocyte associated Ig-like receptor 1 in B lymphocytes from systemic lupus erythematosus patients. Colombo BM, et al. PLoS One, 2012. PMID 22355402, Free PMC Article
    2. Human decidua mesenchymal stem cells regulate decidual natural killer cell function via interactions between collagen and leukocyte‑associated immunoglobulin‑like receptor 1. Fu Q, et al. Mol Med Rep, 2017 Sep. PMID 28677766
    3. p40/LAIR-1 regulates the differentiation of peripheral blood precursors to dendritic cells induced by granulocyte-monocyte colony-stimulating factor. Poggi A, et al. Eur J Immunol, 1998 Jul. PMID 9692876
    4. A LAIR1 insertion generates broadly reactive antibodies against malaria variant antigens. Tan J, et al. Nature, 2016 Jan 7. PMID 26700814, Free PMC Article
    5. Why so many coinhibitory receptors? Sinclair NR. Scand J Immunol, 1999 Jul. PMID 10404045

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Leukocyte-associated immunoglobulin-like receptor 1 (LAIR1) is reduced with preeclampsia and small for gestational aged fetuses.
      Title: Leukocyte-associated immunoglobulin-like receptor 1 (LAIR1) is reduced with preeclampsia and small for gestational aged fetuses.
    2. [leukocyte-associated immunoglobulin-like receptor 1 (LAIR-1) inhibits proliferation and promotes apoptosis of human HEL cells with JAK2 V617F mutation by blocking the JAK/STAT and PI3K/AKT signaling pathways].
      Title: [leukocyte-associated immunoglobulin-like receptor 1 (LAIR-1) inhibits proliferation and promotes apoptosis of human HEL cells with JAK2 V617F mutation by blocking the JAK/STAT and PI3K/AKT signaling pathways].
    3. LAIR-1 limits macrophage activation in acute inflammatory lung injury.
      Title: LAIR-1 limits macrophage activation in acute inflammatory lung injury.
    4. LAIR1 drives glioma progression by nuclear focal adhesion kinase dependent expressions of cyclin D1 and immunosuppressive chemokines/cytokines.
      Title: LAIR1 drives glioma progression by nuclear focal adhesion kinase dependent expressions of cyclin D1 and immunosuppressive chemokines/cytokines.
    5. Development and validation of a leukocyte-associated immunoglobulin-like receptor-1 prognostic signature for lower-grade gliomas.
      Title: Development and validation of a leukocyte-associated immunoglobulin-like receptor-1 prognostic signature for lower-grade gliomas.
    6. Cytotoxic T Cell Expression of Leukocyte-Associated Immunoglobulin-Like Receptor-1 (LAIR-1) in Viral Hepatitis C-Mediated Hepatocellular Carcinoma.
      Title: Cytotoxic T Cell Expression of Leukocyte-Associated Immunoglobulin-Like Receptor-1 (LAIR-1) in Viral Hepatitis C-Mediated Hepatocellular Carcinoma.
    7. Immunoregulatory complement receptor-1 and leukocyte-associated Ig-like receptor-1 expression on leukocytes in Psoriasis vulgaris.
      Title: Immunoregulatory complement receptor-1 and leukocyte-associated Ig-like receptor-1 expression on leukocytes in Psoriasis vulgaris.
    8. Structural basis of LAIR1 targeting by polymorphic Plasmodium RIFINs.
      Title: Structural basis of LAIR1 targeting by polymorphic Plasmodium RIFINs.
    9. Role and mechanism of LAIR-1 in the development of autoimmune diseases, tumors, and malaria: A review.
      Title: Role and mechanism of LAIR-1 in the development of autoimmune diseases, tumors, and malaria: A review.
    10. Leukocyte Associated Immunoglobulin Like Receptor 1 Regulation and Function on Monocytes and Dendritic Cells During Inflammation.
      Title: Leukocyte Associated Immunoglobulin Like Receptor 1 Regulation and Function on Monocytes and Dendritic Cells During Inflammation.
    Submit: New GeneRIF Correction See all GeneRIFs (60)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of LAIR1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef downregulates the cell surface expression of leukocyte-associated immunoglobulin-like receptor 1 (LAIR1, CD305) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune response-regulating signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    leukocyte-associated immunoglobulin-like receptor 1
    Names
    immunoglobulin heavy chain variable region
    leukocyte-associated Ig-like receptor 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001289023.3 → NP_001275952.2  leukocyte-associated immunoglobulin-like receptor 1 isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) lacks an in-frame exon and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
      Source sequence(s)
      AC245884, AF013249, AK315419, DC389365
      Consensus CDS
      CCDS74448.1
      UniProtKB/TrEMBL
      A0A0G2JP18, A0A0G2JQ50
      Related
      ENSP00000418998.1, ENST00000474878.5
      Conserved Domains (1) summary
      cl11960
      Location:26 → 119
      Ig; Immunoglobulin domain

    2. NM_001289025.3 → NP_001275954.2  leukocyte-associated immunoglobulin-like receptor 1 isoform e precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) uses an alternate in-frame splice site in the central coding region. The encoded isoform (e) is shorter, compared to isoform a.
      Source sequence(s)
      AC245884, AF013249, AK315419, DC389365
      Consensus CDS
      CCDS74449.1
      UniProtKB/TrEMBL
      A0A0G2JP18, D3YTC8
      Related
      ENSP00000391003.2, ENST00000434277.6
      Conserved Domains (1) summary
      cl11960
      Location:26 → 119
      Ig; Immunoglobulin domain

    3. NM_001289026.3 → NP_001275955.2  leukocyte-associated immunoglobulin-like receptor 1 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (f) differs in the 5' UTR, lacks part of the 5' coding region, and uses an alternate start codon, compared to variant a. The encoded isoform (f) has a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC245884, AK303261, DA941174, DC389365
      UniProtKB/TrEMBL
      A0A0G2JNU6
      Conserved Domains (1) summary
      cl11960
      Location:20 → 113
      Ig; Immunoglobulin domain

    4. NM_001289027.3 → NP_001275956.2  leukocyte-associated immunoglobulin-like receptor 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (g) differs in the 5' UTR, lacks part of the 5' coding region, and uses an alternate start codon, compared to variant a. The encoded isoform (g) has a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC245884, AK303261, DA941174, DC390481
      Consensus CDS
      CCDS74450.1
      UniProtKB/TrEMBL
      A0A0G2JNU6, A8MZ84
      Related
      ENSP00000375623.3, ENST00000391743.7
      Conserved Domains (1) summary
      cl11960
      Location:9 → 102
      Ig; Immunoglobulin domain

    5. NM_002287.6 → NP_002278.2  leukocyte-associated immunoglobulin-like receptor 1 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) encodes the longest isoform (a).
      Source sequence(s)
      AC245884, AF013249, AK315419, DC389365
      Consensus CDS
      CCDS12891.1
      UniProtKB/Swiss-Prot
      Q6GTX8
      UniProtKB/TrEMBL
      A0A0G2JLV7, A0A0G2JP18
      Related
      ENSP00000375622.2, ENST00000391742.7
      Conserved Domains (1) summary
      cl11960
      Location:27 → 120
      Ig; Immunoglobulin domain

    6. NM_021706.5 → NP_068352.2  leukocyte-associated immunoglobulin-like receptor 1 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
      Source sequence(s)
      AC245884, AF013249, AK315419, DC389365
      Consensus CDS
      CCDS12892.1
      UniProtKB/TrEMBL
      A0A0G2JLV7
      Related
      ENSP00000301193.4, ENST00000348231.8
      Conserved Domains (1) summary
      cl11960
      Location:27 → 120
      Ig; Immunoglobulin domain

    RNA

    1. NR_110279.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (h) uses an alternate splice site at an internal exon, compared to variant a. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC245884, AF013249, AK315419, DC389365

    2. NR_110280.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (i) uses three alternate splice sites at internal exons, compared to variant a. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC245884, AF013249, BM918573, DB134342, DC391314

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54351384..54376088 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438811.1 → XP_047294767.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X1

    2. XM_047438812.1 → XP_047294768.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X2

      UniProtKB/TrEMBL
      A8MZ84

    3. XM_047438810.1 → XP_047294766.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X1

    4. XM_017026803.3 → XP_016882292.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X3

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      332788..356820 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330173.1 → XP_054186148.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JNK8

    2. XM_054330172.1 → XP_054186147.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X1

    3. XM_054330171.1 → XP_054186146.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X4

    4. XM_054330176.1 → XP_054186151.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X6

    5. XM_054330175.1 → XP_054186150.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X5

    6. XM_054330174.1 → XP_054186149.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X3

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      233996..275209 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      333344..357374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333549.1 → XP_054189524.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X8

    2. XM_054333548.1 → XP_054189523.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JMI0

    3. XM_054333547.1 → XP_054189522.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A140T8W3

    4. XM_054333546.1 → XP_054189521.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X7

    5. XM_054333552.1 → XP_054189527.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X11

    6. XM_054333551.1 → XP_054189526.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X10

    7. XM_054333550.1 → XP_054189525.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X9

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      334105..358134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333650.1 → XP_054189625.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JMI0

    2. XM_054333649.1 → XP_054189624.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A140T8W3

    3. XM_054333648.1 → XP_054189623.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X12

    4. XM_054333652.1 → XP_054189627.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X13

    5. XM_054333651.1 → XP_054189626.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57442896..57466925 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320984.1 → XP_054176959.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X16

    2. XM_054320982.1 → XP_054176957.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JMI0

    3. XM_054320981.1 → XP_054176956.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A140T8W3

    4. XM_054320983.1 → XP_054176958.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X15

    5. XM_054320980.1 → XP_054176955.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X14

    6. XM_054320987.1 → XP_054176962.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X18

    7. XM_054320986.1 → XP_054176961.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X17

    8. XM_054320985.1 → XP_054176960.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_021708.1: Suppressed sequence

      Description
      NM_021708.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6GTX8.2 GenPept UniProtKB/Swiss-Prot:Q6GTX8

    Gene LinkOut

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