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

Gene ID: 3903, updated on 11-Apr-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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Location:
19q13.42
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54351384..54376088, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57442896..57466925, complement)
105.20220307 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
  • 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. Cytotoxic T Cell Expression of Leukocyte-Associated Immunoglobulin-Like Receptor-1 (LAIR-1) in Viral Hepatitis C-Mediated Hepatocellular Carcinoma. Hammad R, et al. Int J Mol Sci, 2022 Oct 19. PMID 36293412, Free PMC Article
  2. Development and validation of a leukocyte-associated immunoglobulin-like receptor-1 prognostic signature for lower-grade gliomas. Fang Z, et al. Cancer Med, 2023 Jan. PMID 35702880, Free PMC Article
  3. Structural basis of LAIR1 targeting by polymorphic Plasmodium RIFINs. Xu K, et al. Nat Commun, 2021 Jul 9. PMID 34244481, Free PMC Article
  4. Leukocyte Associated Immunoglobulin Like Receptor 1 Regulation and Function on Monocytes and Dendritic Cells During Inflammation. Carvalheiro T, et al. Front Immunol, 2020. PMID 32973751, Free PMC Article
  5. Role and mechanism of LAIR-1 in the development of autoimmune diseases, tumors, and malaria: A review. Guo N, et al. Curr Res Transl Med, 2020 Aug. PMID 32690423

See all (90) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [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].
  2. LAIR-1 limits macrophage activation in acute inflammatory lung injury.
    Title: LAIR-1 limits macrophage activation in acute inflammatory lung injury.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Structural basis of LAIR1 targeting by polymorphic Plasmodium RIFINs.
    Title: Structural basis of LAIR1 targeting by polymorphic Plasmodium RIFINs.
  8. 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.
  9. 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.
  10. LAIR-1 suppresses cell growth of ovarian cancer cell via the PI3K-AKT-mTOR pathway.
    Title: LAIR-1 suppresses cell growth of ovarian cancer cell via the PI3K-AKT-mTOR pathway.
Submit: New GeneRIF Correction See all GeneRIFs (59)

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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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_2023_10

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

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