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    SIGLEC11 sialic acid binding Ig like lectin 11 [ Homo sapiens (human) ]

    Gene ID: 114132, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SIGLEC11provided by HGNC
    Official Full Name
    sialic acid binding Ig like lectin 11provided by HGNC
    Primary source
    HGNC:HGNC:15622
    See related
    Ensembl:ENSG00000161640 MIM:607157; AllianceGenome:HGNC:15622
    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
    Summary
    This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Biased expression in ovary (RPKM 40.7), spleen (RPKM 13.8) and 1 other tissue See more
    Orthologs
    all
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    Genomic context

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    See SIGLEC11 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49948985..49961172, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52949097..52961282, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50452242..50464429, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene interleukin 4 induced 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50411173-50411894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50415677-50416528 Neighboring gene nucleoporin 62 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50424983-50425650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50425735-50426488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10948 Neighboring gene activating transcription factor 5 Neighboring gene microRNA 4751 Neighboring gene small nucleolar RNA U3 Neighboring gene uncharacterized LOC124904745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50474918-50475418 Neighboring gene sialic acid binding Ig like lectin 16 (gene/pseudogene)

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human-specific microglial Siglec-11 transcript variant has the potential to affect polysialic acid-mediated brain functions at a distance.
      Title: Human-specific microglial Siglec-11 transcript variant has the potential to affect polysialic acid-mediated brain functions at a distance.
    2. The authors demonstrated that the human-specific pathogen Escherichia coli K1 uses its polysialic acid capsule as a molecular mimic to engage Siglec-11 and escape killing. In contrast, engagement of the activating counterpart Siglec-16 increases elimination of bacteria.
      Title: Paired Siglec receptors generate opposite inflammatory responses to a human-specific pathogen.
    3. The results indicate potential roles for Siglec-11 in ovarian physiology and human evolution.
      Title: Expression of Siglec-11 by human and chimpanzee ovarian stromal cells, with uniquely human ligands: implications for human ovarian physiology and pathology.
    4. Siglec-11 ectopically expressed on murine microglia interacts with PSA on neurons, reduces LPS-induced gene transcription of proinflammatory mediators, impairs phagocytosis and alleviates microglial neurotoxicity.
      Title: Alleviation of neurotoxicity by microglial human Siglec-11.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    6. SIGLEC16 encodes a DAP12-associated receptor expressed in macrophages that evolved from its inhibitory counterpart SIGLEC11 and has functional and non-functional alleles in humans.
      Title: SIGLEC16 encodes a DAP12-associated receptor expressed in macrophages that evolved from its inhibitory counterpart SIGLEC11 and has functional and non-functional alleles in humans.
    7. cloning and characterization; a recently evolved signaling that can interact with SHP-1 and SHP-2 and is expressed by tissue macrophages including brain microglia
      Title: Cloning and characterization of human Siglec-11. A recently evolved signaling molecule that can interact with SHP-1 and SHP-2 and is expressed by tissue macrophages, including brain microglia.
    8. expressed in human but not in chimpanzee brain microglia; findings indicate that human SIGLEC11 emerged through human-specific gene conversion by an adjacent pseudogene
      Title: A human-specific gene in microglia.
    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sialic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sialic acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion 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
    sialic acid-binding Ig-like lectin 11
    Names
    siglec-11

    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.

    Genomic

    1. NG_030323.1 RefSeqGene

      Range
      5001..17188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135163.1 → NP_001128635.1  sialic acid-binding Ig-like lectin 11 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the mid coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC011452, AF337818, AY358135
      Consensus CDS
      CCDS46150.1
      UniProtKB/Swiss-Prot
      Q96RL6
      Related
      ENSP00000398891.2, ENST00000426971.2
      Conserved Domains (4) summary
      cd00096
      Location:387 → 450
      Ig; Immunoglobulin domain
      cd05712
      Location:34 → 153
      Ig_Siglec_N; Immunoglobulin (Ig) domain at the N terminus of Siglec (sialic acid-binding Ig-like lectins)
      smart00408
      Location:280 → 341
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:275 → 351
      IG_like; Immunoglobulin like

    2. NM_052884.3 → NP_443116.2  sialic acid-binding Ig-like lectin 11 isoform 1 precursor

      See identical proteins and their annotated locations for NP_443116.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC011452, AF337818
      Consensus CDS
      CCDS12790.2
      UniProtKB/Swiss-Prot
      Q96RL6
      Related
      ENSP00000412361.2, ENST00000447370.6
      Conserved Domains (4) summary
      cd00096
      Location:387 → 450
      Ig; Immunoglobulin domain
      cd05712
      Location:34 → 153
      Ig_Siglec_N; Immunoglobulin (Ig) domain at the N terminus of Siglec (sialic acid-binding Ig-like lectins)
      smart00408
      Location:280 → 341
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:275 → 351
      IG_like; Immunoglobulin like

    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
      49948985..49961172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258476.4 → XP_005258533.3  sialic acid-binding Ig-like lectin 11 isoform X1

    2. XM_047438122.1 → XP_047294078.1  sialic acid-binding Ig-like lectin 11 isoform X2

    3. XM_005258477.4 → XP_005258534.3  sialic acid-binding Ig-like lectin 11 isoform X3

      UniProtKB/TrEMBL
      I1VSB5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52949097..52961282 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319697.1 → XP_054175672.1  sialic acid-binding Ig-like lectin 11 isoform X1

    2. XM_054319698.1 → XP_054175673.1  sialic acid-binding Ig-like lectin 11 isoform X2

    3. XM_054319699.1 → XP_054175674.1  sialic acid-binding Ig-like lectin 11 isoform X3

      UniProtKB/TrEMBL
      I1VSB5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96RL6.2 GenPept UniProtKB/Swiss-Prot:Q96RL6

    Gene LinkOut

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

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