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Aliases for SIGLEC1 Gene

Aliases for SIGLEC1 Gene

  • Sialic Acid Binding Ig Like Lectin 1 2 3 5
  • Sialic Acid Binding Ig-Like Lectin 1, Sialoadhesin 2 3
  • Sialoadhesin 2 3
  • SIGLEC-1 3 4
  • SN 3 4
  • Sialic Acid-Binding Immunoglobulin-Like Lectin 1 3
  • Sialic Acid-Binding Ig-Like Lectin 1 4
  • CD169 Antigen 4
  • DJ1009E24.1 3
  • CD169 3

External Ids for SIGLEC1 Gene

Previous HGNC Symbols for SIGLEC1 Gene

  • SN

Previous GeneCards Identifiers for SIGLEC1 Gene

  • GC20M003616

Summaries for SIGLEC1 Gene

Entrez Gene Summary for SIGLEC1 Gene

  • This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for SIGLEC1 Gene

SIGLEC1 (Sialic Acid Binding Ig Like Lectin 1) is a Protein Coding gene. Diseases associated with SIGLEC1 include Proliferative Glomerulonephritis and Syndromic X-Linked Intellectual Disability Cabezas Type. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is CD22.

UniProtKB/Swiss-Prot for SIGLEC1 Gene

  • Acts as an endocytic receptor mediating clathrin dependent endocytosis. Macrophage-restricted adhesion molecule that mediates sialic-acid dependent binding to lymphocytes, including granulocytes, monocytes, natural killer cells, B-cells and CD8 T-cells. Preferentially binds to alpha-2,3-linked sialic acid (By similarity). Binds to SPN/CD43 on T-cells (By similarity). May play a role in hemopoiesis.

Additional gene information for SIGLEC1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIGLEC1 Gene

Genomics for SIGLEC1 Gene

GeneHancer (GH) Regulatory Elements for SIGLEC1 Gene

Promoters and enhancers for SIGLEC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I003710 Enhancer 1.4 FANTOM5 Ensembl ENCODE 550.8 +0.9 916 3 RB1 YBX1 PLRG1 ZNF2 DNMT3B ZNF48 RAD21 SLC30A9 GLIS2 EGR1 SIGLEC1 ADAM33 C20orf27 PANK2 RNF24
GH20I003707 Promoter 0.5 EPDnew 550.4 +5.4 5397 0.1 SIGLEC1 ADAM33
GH20I003676 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 11.9 +32.9 32883 6.1 ELF3 SIN3A ZNF48 RAD21 ZNF335 GLIS2 ZNF143 THAP11 ZNF654 REST ADAM33 HSPA12B SIGLEC1 PTPRA CENPB GFRA4
GH20I003739 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.6 -27.1 -27082 0.6 SOX5 GATAD2A USF1 TFE3 SAP130 MNT NR2F2 RARA KAT8 RAD51 C20orf27 SIGLEC1 CDC25B CENPB SPEF1 ENSG00000229539 PANK2 HSPA12B PIR58376
GH20I003652 Enhancer 0.5 ENCODE 12 +60.2 60238 0.1 TCF12 NCOR1 TEAD4 TAL1 CBFA2T3 CBFA2T2 SIGLEC1 HSPA12B PIR59813 GFRA4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SIGLEC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SIGLEC1 gene promoter:

Genomic Locations for SIGLEC1 Gene

Genomic Locations for SIGLEC1 Gene
chr20:3,686,970-3,712,617
(GRCh38/hg38)
Size:
25,648 bases
Orientation:
Minus strand
chr20:3,667,617-3,687,775
(GRCh37/hg19)

Genomic View for SIGLEC1 Gene

Genes around SIGLEC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIGLEC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIGLEC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIGLEC1 Gene

Proteins for SIGLEC1 Gene

  • Protein details for SIGLEC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZZ2-SN_HUMAN
    Recommended name:
    Sialoadhesin
    Protein Accession:
    Q9BZZ2
    Secondary Accessions:
    • Q96DL4
    • Q9GZS5
    • Q9H1H6
    • Q9H1H7
    • Q9H7L7

    Protein attributes for SIGLEC1 Gene

    Size:
    1709 amino acids
    Molecular mass:
    182624 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SIGLEC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIGLEC1 Gene

Post-translational modifications for SIGLEC1 Gene

  • Glycosylation at isoforms=2, 3159, isoforms=2, 3265, isoforms=2, 3339, isoforms=2, 3499, posLast=697697, posLast=726726, isoforms=2, 3730, posLast=741741, isoforms=2, 3886, posLast=11041104, posLast=11381138, posLast=12511251, isoforms=2, 31462, and posLast=14761476
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SIGLEC1 Gene

Domains & Families for SIGLEC1 Gene

Gene Families for SIGLEC1 Gene

Suggested Antigen Peptide Sequences for SIGLEC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZZ2

UniProtKB/Swiss-Prot:

SN_HUMAN :
  • Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
Family:
  • Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
genes like me logo Genes that share domains with SIGLEC1: view

Function for SIGLEC1 Gene

Molecular function for SIGLEC1 Gene

UniProtKB/Swiss-Prot Function:
Acts as an endocytic receptor mediating clathrin dependent endocytosis. Macrophage-restricted adhesion molecule that mediates sialic-acid dependent binding to lymphocytes, including granulocytes, monocytes, natural killer cells, B-cells and CD8 T-cells. Preferentially binds to alpha-2,3-linked sialic acid (By similarity). Binds to SPN/CD43 on T-cells (By similarity). May play a role in hemopoiesis.

Gene Ontology (GO) - Molecular Function for SIGLEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030246 carbohydrate binding NAS 11133773
genes like me logo Genes that share ontologies with SIGLEC1: view
genes like me logo Genes that share phenotypes with SIGLEC1: view

Animal Models for SIGLEC1 Gene

MGI Knock Outs for SIGLEC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SIGLEC1

miRNA for SIGLEC1 Gene

miRTarBase miRNAs that target SIGLEC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIGLEC1 Gene

Localization for SIGLEC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIGLEC1 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SIGLEC1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
peroxisome 1
cytosol 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for SIGLEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 11133773
genes like me logo Genes that share ontologies with SIGLEC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SIGLEC1 Gene

Pathways & Interactions for SIGLEC1 Gene

genes like me logo Genes that share pathways with SIGLEC1: view

Pathways by source for SIGLEC1 Gene

Interacting Proteins for SIGLEC1 Gene

Gene Ontology (GO) - Biological Process for SIGLEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0006954 inflammatory response NAS 11133773
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion NAS 11133773
GO:0098609 cell-cell adhesion NAS 11133773
genes like me logo Genes that share ontologies with SIGLEC1: view

No data available for SIGNOR curated interactions for SIGLEC1 Gene

Drugs & Compounds for SIGLEC1 Gene

(8) Drugs for SIGLEC1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Beta-D-Glucose Experimental Pharma Target 0
N-acetyl-alpha-neuraminic acid Experimental Pharma Target 0

(9) Additional Compounds for SIGLEC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SIGLEC1: view

Transcripts for SIGLEC1 Gene

Unigene Clusters for SIGLEC1 Gene

Sialic acid binding Ig-like lectin 1, sialoadhesin:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SIGLEC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^
SP1: - -
SP2:
SP3:
SP4: -
SP5: -

ExUns: 20 ^ 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5: -

Relevant External Links for SIGLEC1 Gene

GeneLoc Exon Structure for
SIGLEC1
ECgene alternative splicing isoforms for
SIGLEC1

Expression for SIGLEC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SIGLEC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIGLEC1 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x4.4).

Protein differential expression in normal tissues from HIPED for SIGLEC1 Gene

This gene is overexpressed in Adrenal (35.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SIGLEC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SIGLEC1 Gene:

SIGLEC1

SOURCE GeneReport for Unigene cluster for SIGLEC1 Gene:

Hs.31869

mRNA Expression by UniProt/SwissProt for SIGLEC1 Gene:

Q9BZZ2-SN_HUMAN
Tissue specificity: Expressed by macrophages in various tissues. High levels are found in spleen, lymph node, perivascular macrophages in brain and lower levels in bone marrow, liver Kupffer cells and lamina propria of colon and lung. Also expressed by inflammatory macrophages in rheumatoid arthritis.

Evidence on tissue expression from TISSUES for SIGLEC1 Gene

  • Spleen(4.5)
  • Blood(4.4)
  • Lymph node(2.7)
genes like me logo Genes that share expression patterns with SIGLEC1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SIGLEC1 Gene

Orthologs for SIGLEC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SIGLEC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIGLEC1 33 34
  • 98.99 (n)
cow
(Bos Taurus)
Mammalia SIGLEC1 33 34
  • 82.94 (n)
dog
(Canis familiaris)
Mammalia SIGLEC1 33 34
  • 82.65 (n)
mouse
(Mus musculus)
Mammalia Siglec1 33 16 34
  • 77.74 (n)
rat
(Rattus norvegicus)
Mammalia Siglec1 33
  • 70.89 (n)
oppossum
(Monodelphis domestica)
Mammalia SIGLEC1 34
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIGLEC1 34
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIGLEC1 34
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIGLEC1 34
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia siglec1 33
  • 48.79 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01058865.1 34
  • 23 (a)
ManyToMany
si:ch211-1f22.14 34
  • 23 (a)
ManyToMany
si:dkey-27j5.10 34
  • 23 (a)
ManyToMany
Species where no ortholog for SIGLEC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SIGLEC1 Gene

ENSEMBL:
Gene Tree for SIGLEC1 (if available)
TreeFam:
Gene Tree for SIGLEC1 (if available)

Paralogs for SIGLEC1 Gene

Paralogs for SIGLEC1 Gene

(2) SIMAP similar genes for SIGLEC1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SIGLEC1: view

Variants for SIGLEC1 Gene

Sequence variations from dbSNP and Humsavar for SIGLEC1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000055489 -- 3,709,742(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000133926 -- 3,688,809(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000516888 -- 3,695,769(-) G/A/C intron_variant
rs1000583117 -- 3,700,475(-) T/C intron_variant
rs1000743227 -- 3,712,160(-) G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SIGLEC1 Gene

Variant ID Type Subtype PubMed ID
dgv1226e212 CNV loss 25503493
esv3575355 CNV gain 25503493
nsv470536 CNV loss 18288195
nsv475100 CNV novel sequence insertion 20440878
nsv520565 CNV loss 19592680
nsv585283 CNV loss 21841781
nsv585284 CNV loss 21841781
nsv585285 CNV loss 21841781

Variation tolerance for SIGLEC1 Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.49; 71.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIGLEC1 Gene

Human Gene Mutation Database (HGMD)
SIGLEC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIGLEC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIGLEC1 Gene

Disorders for SIGLEC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SIGLEC1 Gene - From: HGMD, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SIGLEC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SIGLEC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SIGLEC1 Gene

Publications for SIGLEC1 Gene

  1. Characterization of human sialoadhesin, a sialic acid binding receptor expressed by resident and inflammatory macrophage populations. (PMID: 11133773) Hartnell A … Crocker PR (Blood 2001) 3 4 22 58
  2. Sialoadhesin (Sn) maps to mouse chromosome 2 and human chromosome 20 and is not linked to the other members of the sialoadhesin family, CD22, MAG, and CD33. (PMID: 8530048) Mucklow S … Crocker PR (Genomics 1995) 2 3 22 58
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  4. Human rhinoviruses induce IL-35-producing Treg via induction of B7-H1 (CD274) and sialoadhesin (CD169) on DC. (PMID: 19950173) Seyerl M … Stöckl J (European journal of immunology 2010) 3 22 58
  5. Sialic acid-binding Ig-like lectin 1 expression in inflammatory and resident monocytes is a potential biomarker for monitoring disease activity and success of therapy in systemic lupus erythematosus. (PMID: 18383365) Biesen R … Grützkau A (Arthritis and rheumatism 2008) 3 22 58

Products for SIGLEC1 Gene

Sources for SIGLEC1 Gene

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