• Gene id: 6614

Gene Summary

• Gene Symbol: SIGLEC1   Gene   UCSC   Ensembl
• Aliases: CD169, SIGLEC-1, SN
• Gene name: sialic acid binding Ig like lectin 1
• Alternate names: sialoadhesin, sialic acid binding Ig-like lectin 1, sialoadhesin, sialic acid-binding immunoglobulin-like lectin 1,
• Gene location: 20p13 (3712599: 3686969)     Exons: 22     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 605076

Protein Summary

• Protein general information: Q9BZZ2  
  • Name: Sialoadhesin (Sialic acid binding Ig like lectin 1) (Siglec 1) (CD antigen CD169)
  • Length: 1709  
  • Mass: 182624
  • 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 in
• Sequence:

  MGFLPKLLLLASFFPAGQASWGVSSPQDVQGVKGSCLLIPCIFSFPADVEVPDGITAIWYYDYSGQRQVVSHSAD
  PKLVEARFRGRTEFMGNPEHRVCNLLLKDLQPEDSGSYNFRFEISEVNRWSDVKGTLVTVTEEPRVPTIASPVEL
  LEGTEVDFNCSTPYVCLQEQVRLQWQGQDPARSVTFNSQKFEPTGVGHLETLHMAMSWQDHGRILRCQLSVANHR
  AQSEIHLQVKYAPKGVKILLSPSGRNILPGELVTLTCQVNSSYPAVSSIKWLKDGVRLQTKTGVLHLPQAAWSDA
  GVYTCQAENGVGSLVSPPISLHIFMAEVQVSPAGPILENQTVTLVCNTPNEAPSDLRYSWYKNHVLLEDAHSHTL
  RLHLATRADTGFYFCEVQNVHGSERSGPVSVVVNHPPLTPVLTAFLETQAGLVGILHCSVVSEPLATLVLSHGGH
  ILASTSGDSDHSPRFSGTSGPNSLRLEIRDLEETDSGEYKCSATNSLGNATSTLDFHANAARLLISPAAEVVEGQ
  AVTLSCRSGLSPTPDARFSWYLNGALLHEGPGSSLLLPAASSTDAGSYHCRARDGHSASGPSSPAVLTVLYPPRQ
  PTFTTRLDLDAAGAGAGRRGLLLCRVDSDPPARLQLLHKDRVVATSLPSGGGCSTCGGCSPRMKVTKAPNLLRVE
  IHNPLLEEEGLYLCEASNALGNASTSATFNGQATVLAIAPSHTLQEGTEANLTCNVSREAAGSPANFSWFRNGVL
  WAQGPLETVTLLPVARTDAALYACRILTEAGAQLSTPVLLSVLYPPDRPKLSALLDMGQGHMALFICTVDSRPLA
  LLALFHGEHLLATSLGPQVPSHGRFQAKAEANSLKLEVRELGLGDSGSYRCEATNVLGSSNTSLFFQVRGAWVQV
  SPSPELQEGQAVVLSCQVHTGVPEGTSYRWYRDGQPLQESTSATLRFAAITLTQAGAYHCQAQAPGSATTSLAAP
  ISLHVSYAPRHVTLTTLMDTGPGRLGLLLCRVDSDPPAQLRLLHGDRLVASTLQGVGGPEGSSPRLHVAVAPNTL
  RLEIHGAMLEDEGVYICEASNTLGQASASADFDAQAVNVQVWPGATVREGQLVNLTCLVWTTHPAQLTYTWYQDG
  QQRLDAHSIPLPNVTVRDATSYRCGVGPPGRAPRLSRPITLDVLYAPRNLRLTYLLESHGGQLALVLCTVDSRPP
  AQLALSHAGRLLASSTAASVPNTLRLELRGPQPRDEGFYSCSARSPLGQANTSLELRLEGVRVILAPEAAVPEGA
  PITVTCADPAAHAPTLYTWYHNGRWLQEGPAASLSFLVATRAHAGAYSCQAQDAQGTRSSRPAALQVLYAPQDAV
  LSSFRDSRARSMAVIQCTVDSEPPAELALSHDGKVLATSSGVHSLASGTGHVQVARNALRLQVQDVPAGDDTYVC
  TAQNLLGSISTIGRLQVEGARVVAEPGLDVPEGAALNLSCRLLGGPGPVGNSTFAWFWNDRRLHAEPVPTLAFTH
  VARAQAGMYHCLAELPTGAAASAPVMLRVLYPPKTPTMMVFVEPEGGLRGILDCRVDSEPLASLTLHLGSRLVAS
  SQPQGAPAEPHIHVLASPNALRVDIEALRPSDQGEYICSASNVLGSASTSTYFGVRALHRLHQFQQLLWVLGLLV
  GLLLLLLGLGACYTWRRRRVCKQSMGENSVEMAFQKETTQLIDPDAATCETSTCAPPLG

• Structural information:
  • Protein Domains: (20..13-)
    (/note="Ig-like-V-type)
    (139..23-)
    1 (/note="Ig-like-C2-type)
    (238..32-)
    2 (/note="Ig-like-C2-type)
    (326..40-)
    3 (/note="Ig-like-C2-type)
    (411..50-)
    4 (/note="Ig-like-C2-type)
    (511..59-)
    (/note="Ig-like-C)
  • Interpro: IPR013162  IPR007110  IPR036179  IPR013783  IPR013098   IPR003599  IPR003598  IPR013106  
  • Prosite: PS50835
  • STRING: ENSP00000341141
• Other Databases: GeneCards:  SIGLEC1  Malacards:  SIGLEC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0075512	clathrin-dependent endocytosis of virus by host cell	IBA	biological process
GO:0005769	early endosome	IBA	cellular component
GO:0005770	late endosome	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0046790	virion binding	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030246	carbohydrate binding	NAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0006954	inflammatory response	NAS	biological process
GO:0098609	cell-cell adhesion	NAS	biological process
GO:0007160	cell-matrix adhesion	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray