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

Gene ID: 3903, updated on 12-Oct-2019

Summary

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
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

Genomic context

See LAIR1 in Genome Data Viewer
Location:
19q13.42
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (54351384..54370556, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54865235..54882241, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 104 pseudogene Neighboring gene leukocyte immunoglobulin like receptor A4 Neighboring gene tweety family member 1 Neighboring gene Sharpr-MPRA regulatory region 3780 Neighboring gene LENG8 antisense RNA 1 Neighboring gene leukocyte receptor cluster member 8

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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 BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
regulation of immune response TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 
tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

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

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_001289023.3NP_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/Swiss-Prot
    Q6GTX8
    Related
    ENSP00000418998.1, ENST00000474878.5
    Conserved Domains (1) summary
    cl11960
    Location:26119
    Ig; Immunoglobulin domain
  2. NM_001289025.3NP_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/Swiss-Prot
    Q6GTX8
    UniProtKB/TrEMBL
    D3YTC8
    Related
    ENSP00000391003.2, ENST00000434277.6
    Conserved Domains (1) summary
    cl11960
    Location:26119
    Ig; Immunoglobulin domain
  3. NM_001289026.2NP_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
    Conserved Domains (1) summary
    cl11960
    Location:20113
    Ig; Immunoglobulin domain
  4. NM_001289027.2NP_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
    A8MZ84
    Related
    ENSP00000375623.3, ENST00000391743.7
    Conserved Domains (1) summary
    cl11960
    Location:9102
    Ig; Immunoglobulin domain
  5. NM_002287.6NP_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
    Related
    ENSP00000375622.2, ENST00000391742.7
    Conserved Domains (1) summary
    cl11960
    Location:27120
    Ig; Immunoglobulin domain
  6. NM_021706.5NP_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/Swiss-Prot
    Q6GTX8
    Related
    ENSP00000301193.4, ENST00000348231.8
    Conserved Domains (1) summary
    cl11960
    Location:27120
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    54351384..54370556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026803.2XP_016882292.1  leukocyte-associated immunoglobulin-like receptor 1 isoform X1

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    332788..351962 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    233996..275207 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p13 ALT_REF_LOCI_8

    Range
    333344..352517 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p13 ALT_REF_LOCI_9

    Range
    334105..353277 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
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