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

Summary

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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
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.
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.
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.

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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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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

NG_030323.1 RefSeqGene

Range

5001..17188

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

49948985..49961172 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005258476.4 → XP_005258533.3 sialic acid-binding Ig-like lectin 11 isoform X1
XM_047438122.1 → XP_047294078.1 sialic acid-binding Ig-like lectin 11 isoform X2
XM_005258477.4 → XP_005258534.3 sialic acid-binding Ig-like lectin 11 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

52949097..52961282 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054319697.1 → XP_054175672.1 sialic acid-binding Ig-like lectin 11 isoform X1
XM_054319698.1 → XP_054175673.1 sialic acid-binding Ig-like lectin 11 isoform X2
XM_054319699.1 → XP_054175674.1 sialic acid-binding Ig-like lectin 11 isoform X3