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    LILRA5 leukocyte immunoglobulin like receptor A5 [ Homo sapiens (human) ]

    Gene ID: 353514, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LILRA5provided by HGNC
    Official Full Name
    leukocyte immunoglobulin like receptor A5provided by HGNC
    Primary source
    HGNC:HGNC:16309
    See related
    Ensembl:ENSG00000187116 MIM:606047; AllianceGenome:HGNC:16309
    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
    CD85; LIR9; CD85F; ILT11; LIR-9; ILT-11; LILRB7
    Summary
    The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in appendix (RPKM 29.5), bone marrow (RPKM 22.9) and 4 other tissues See more
    Orthologs
    all
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    Genomic context

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    See LILRA5 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54307070..54313166, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57396884..57402937, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54818353..54824436, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54778410-54779374 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:54782879-54784078 Neighboring gene leukocyte immunoglobulin like receptor B2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54789309-54789810 Neighboring gene microRNA 4752 Neighboring gene MPRA-validated peak3552 silencer Neighboring gene vomeronasal 1 receptor 104 pseudogene Neighboring gene Sharpr-MPRA regulatory region 7396 Neighboring gene MPRA-validated peak3554 silencer Neighboring gene leukocyte immunoglobulin like receptor A4

    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. Crystal structure of the human monocyte-activating receptor, "Group 2" leukocyte Ig-like receptor A5 (LILRA5/LIR9/ILT11). Shiroishi M, et al. J Biol Chem, 2006 Jul 14. PMID 16675463
    2. LILRA5 is expressed by synovial tissue macrophages in rheumatoid arthritis, selectively induces pro-inflammatory cytokines and IL-10 and is regulated by TNF-alpha, IL-10 and IFN-gamma. Mitchell A, et al. Eur J Immunol, 2008 Dec. PMID 19009525
    3. LIR9, an immunoglobulin-superfamily-activating receptor, is expressed as a transmembrane and as a secreted molecule. Borges L, et al. Blood, 2003 Feb 15. PMID 12393390
    4. Alternative mRNA splicing creates transcripts encoding soluble proteins from most LILR genes. Jones DC, et al. Eur J Immunol, 2009 Nov. PMID 19658091
    5. Extensive gene duplications and a large inversion characterize the human leukocyte receptor cluster. Wende H, et al. Immunogenetics, 2000 Jul. PMID 10941842

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus.
    2. LILRA5/LIR9/ILT11 does not play a role in any MHCI recognition but could possibly bind to non-MHCI ligand(s) on the target cells to provide a novel immune regulation mechanism
      Title: Crystal structure of the human monocyte-activating receptor, "Group 2" leukocyte Ig-like receptor A5 (LILRA5/LIR9/ILT11).
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: LILRA4

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables inhibitory MHC class I receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in immune response-regulating signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of interleukin-12 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of interleukin-13 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-10 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein tyrosine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 5
    Names
    CD85 antigen-like family member F
    immunoglobulin-like transcript 11 protein
    leucocyte Ig-like receptor A5
    leukocyte Ig-like receptor 9
    leukocyte immunoglobulin-like receptor 9
    leukocyte immunoglobulin-like receptor subfamily A member 5 soluble
    leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5
    leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 7

    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_021250.4 → NP_067073.1  leukocyte immunoglobulin-like receptor subfamily A member 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_067073.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as LIR9m1, encodes the longest isoform (1).
      Source sequence(s)
      AC245884, AF324830, AF499916
      Consensus CDS
      CCDS12888.1
      UniProtKB/Swiss-Prot
      A6NHI3, A6NI73
      UniProtKB/TrEMBL
      A0A0U4ARJ3
      Related
      ENSP00000404236.4, ENST00000432233.8
      Conserved Domains (2) summary
      cd05711
      Location:141 → 236
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cd05751
      Location:45 → 136
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins

    2. NM_181879.3 → NP_870994.1  leukocyte immunoglobulin-like receptor subfamily A member 5 isoform 3 precursor

      See identical proteins and their annotated locations for NP_870994.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as LIR9s1, differs in the 3' end-region, which includes a part of the coding region, as compared to variant 1. The resulting isoform (3) has a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC245884, AF324830, AF499918, AF499919
      UniProtKB/Swiss-Prot
      A6NI73
      Related
      ENST00000446712.4
      Conserved Domains (2) summary
      cd05711
      Location:141 → 236
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cd05751
      Location:45 → 136
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins

    3. NM_181985.4 → NP_871714.1  leukocyte immunoglobulin-like receptor subfamily A member 5 isoform 2 precursor

      See identical proteins and their annotated locations for NP_871714.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as LIR9m2, lacks an in-frame coding segment, as compared to variant 1. The resulting isoform (2) lacks an internal region, as compared to isoform 1.
      Source sequence(s)
      AC245884, AF324830, AF499917
      Consensus CDS
      CCDS12889.1
      UniProtKB/TrEMBL
      A0A0U4ARJ3
      Related
      ENSP00000484372.1, ENST00000486742.2
      Conserved Domains (2) summary
      cd05711
      Location:129 → 224
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cd05751
      Location:33 → 124
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins

    4. NM_181986.3 → NP_871715.1  leukocyte immunoglobulin-like receptor subfamily A member 5 isoform 4 precursor

      See identical proteins and their annotated locations for NP_871715.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), also known as LIR9s2, lacks an in-frame coding segment and differs in the 3' end-region, as compared to variant 1. The resulting isoform (4) lacks an internal region and has a distinct and shorter C-terminus as compared to isoform 1.
      Source sequence(s)
      AC245884, AF324830, AF499919
      UniProtKB/Swiss-Prot
      A6NI73
      Related
      ENST00000489504.5
      Conserved Domains (2) summary
      cd05711
      Location:129 → 224
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cd05751
      Location:33 → 124
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins

    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
      54307070..54313166 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
      288498..294581 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      288422..294512 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
      288603..294667 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
      289467..295550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57396884..57402937 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NI73.1 GenPept UniProtKB/Swiss-Prot:A6NI73

    Gene LinkOut

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

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