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    LILRA6 leukocyte immunoglobulin like receptor A6 [ Homo sapiens (human) ]

    Gene ID: 79168, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LILRA6provided by HGNC
    Official Full Name
    leukocyte immunoglobulin like receptor A6provided by HGNC
    Primary source
    HGNC:HGNC:15495
    See related
    Ensembl:ENSG00000244482 AllianceGenome:HGNC:15495
    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
    ILT5; ILT8; CD85b; ILT-8; LILRB3; LILRB6
    Summary
    Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in appendix (RPKM 13.1), spleen (RPKM 5.9) and 7 other tissues See more
    Orthologs
    all
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    Genomic context

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    See LILRA6 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54236590..54242790, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57316995..57323579, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 (PATCHES) NW_004166865.1 (210957..217157, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54720754-54721590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54721591-54722426 Neighboring gene uncharacterized LOC124904768 Neighboring gene leukocyte immunoglobulin like receptor B3 Neighboring gene uncharacterized LOC107985279 Neighboring gene LSM14A, SCD6 homolog A (S. cerevisiae) pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54735962-54736715 Neighboring gene uncharacterized LOC107987463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54747703-54748204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54755357-54755974 Neighboring gene leukocyte immunoglobulin like receptor B5

    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. LILRA6 copy number variation correlates with susceptibility to atopic dermatitis. López-Álvarez MR, et al. Immunogenetics, 2016 Oct. PMID 27333811, Free PMC Article
    2. Distinct frequency patterns of LILRB3 and LILRA6 allelic variants in Europeans. Bashirova AA, et al. Immunogenetics, 2023 Jun. PMID 36449053, Free PMC Article
    3. Immunoglobulin-like receptors and the generation of innate immune memory. Al-Moussawy M, et al. Immunogenetics, 2022 Feb. PMID 35034136, Free PMC Article
    4. Characterization of LILRB3 and LILRA6 allelic variants in the Japanese population. Hirayasu K, et al. J Hum Genet, 2021 Jul. PMID 33526815
    5. Diversity of the human LILRB3/A6 locus encoding a myeloid inhibitory and activating receptor pair. Bashirova AA, et al. Immunogenetics, 2014 Jan. PMID 24096970, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Distinct frequency patterns of LILRB3 and LILRA6 allelic variants in Europeans.
      Title: Distinct frequency patterns of LILRB3 and LILRA6 allelic variants in Europeans.
    2. Characterization of LILRB3 and LILRA6 allelic variants in the Japanese population.
      Title: Characterization of LILRB3 and LILRA6 allelic variants in the Japanese population.
    3. LILRA6 copy number variation correlates with susceptibility to atopic dermatitis.
      Title: LILRA6 copy number variation correlates with susceptibility to atopic dermatitis.
    4. LILRA6 copy number variation may influence the level of the activating receptor on the cell surface, potentially affecting signaling upon LILRB3/A6 ligation
      Title: Diversity of the human LILRB3/A6 locus encoding a myeloid inhibitory and activating receptor pair.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus.
    6. Allogeneic disparities in immunoglobulin-like transcript 5 induce potent antibody responses in hematopoietic stem cell transplant recipients
      Title: Allogeneic disparities in immunoglobulin-like transcript 5 induce potent antibody responses in hematopoietic stem cell transplant recipients.
    Submit: New GeneRIF Correction

    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

    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

    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell surface receptor signaling pathway 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
    		  

    General protein information

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    Preferred Names
    leukocyte immunoglobulin-like receptor subfamily A member 6
    Names
    immunoglobulin-like transcript 5
    immunoglobulin-like transcript 8
    leucocyte Ig-like receptor A6
    leukocyte Ig-like receptor
    leukocyte immunoglobulin like receptor B3
    leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6
    leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6

    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_001360167.1 → NP_001347096.1  leukocyte immunoglobulin-like receptor subfamily A member 6 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      KC918866
      UniProtKB/Swiss-Prot
      Q6PI73
      UniProtKB/TrEMBL
      U5XHD7, U5XHE4
      Conserved Domains (2) summary
      cd05751
      Location:27 → 118
      Ig1_LILR_KIR_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILRs), Natural killer inhibitory receptors (KIRs) and similar domains
      cl11960
      Location:123 → 217
      Ig; Immunoglobulin domain

    2. NM_024318.5 → NP_077294.3  leukocyte immunoglobulin-like receptor subfamily A member 6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_077294.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the supported protein.
      Source sequence(s)
      AC245052
      Consensus CDS
      CCDS42610.1
      UniProtKB/TrEMBL
      A0A0G2JPY1, U5XH19
      Related
      ENSP00000379651.2, ENST00000396365.7
      Conserved Domains (3) summary
      cd05751
      Location:27 → 118
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
      smart00410
      Location:237 → 296
      IG_like; Immunoglobulin like
      cl11960
      Location:123 → 217
      Ig; Immunoglobulin domain

    RNA

    1. NR_104098.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and includes additional 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC245052
      Related
      ENST00000430421.5

    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
      54236590..54242790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      211376..217601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547130.3 → XP_011545432.1  leukocyte immunoglobulin-like receptor subfamily A member 6 isoform X2

      UniProtKB/TrEMBL
      B5ME96
      Conserved Domains (3) summary
      cd05751
      Location:27 → 118
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
      smart00410
      Location:334 → 396
      IG_like; Immunoglobulin like
      cl11960
      Location:123 → 217
      Ig; Immunoglobulin domain

    2. XM_054329707.1 → XP_054185682.1  leukocyte immunoglobulin-like receptor subfamily A member 6 isoform X3

      UniProtKB/TrEMBL
      U5XJZ2

    3. XM_047442916.1 → XP_047298872.1  leukocyte immunoglobulin-like receptor subfamily A member 6 isoform X1

    RNA

    1. XR_007068732.1 RNA Sequence

    2. XR_007068733.1 RNA Sequence

    3. XR_001756516.2 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      211579..217752 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
      191397..217778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      213919..217758 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57316995..57323579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322805.1 → XP_054178780.1  leukocyte immunoglobulin-like receptor subfamily A member 6 isoform X3

    2. XM_054322806.1 → XP_054178781.1  leukocyte immunoglobulin-like receptor subfamily A member 6 isoform X5

    3. XM_054322807.1 → XP_054178782.1  leukocyte immunoglobulin-like receptor subfamily A member 6 isoform X6

    4. XM_054322804.1 → XP_054178779.1  leukocyte immunoglobulin-like receptor subfamily A member 6 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PI73.2 GenPept UniProtKB/Swiss-Prot:Q6PI73

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