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Protein

Sialic acid-binding Ig-like lectin 12

Gene

SIGLEC12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Lectin

Enzyme and pathway databases

ReactomeiR-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

Names & Taxonomyi

Protein namesi
Recommended name:
Sialic acid-binding Ig-like lectin 12
Short name:
Siglec-12
Alternative name(s):
Sialic acid-binding Ig-like lectin-like 1
Short name:
Siglec-L1
Gene namesi
Name:SIGLEC12
Synonyms:SIGLECL1, SLG
ORF Names:UNQ9215/PRO34042
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:15482. SIGLEC12.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 481463ExtracellularSequence analysisAdd
BLAST
Transmembranei482 – 50221HelicalSequence analysisAdd
BLAST
Topological domaini503 – 59593CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37966.

Polymorphism and mutation databases

BioMutaiSIGLEC12.
DMDMi25009264.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence analysisAdd
BLAST
Chaini19 – 595577Sialic acid-binding Ig-like lectin 12PRO_0000014953Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi44 ↔ 104PROSITE-ProRule annotation
Glycosylationi140 – 1401N-linked (GlcNAc...)Sequence analysis
Disulfide bondi166 ↔ 299PROSITE-ProRule annotation
Disulfide bondi171 ↔ 231PROSITE-ProRule annotation
Glycosylationi179 – 1791N-linked (GlcNAc...)Sequence analysis
Glycosylationi230 – 2301N-linked (GlcNAc...)Sequence analysis
Glycosylationi290 – 2901N-linked (GlcNAc...)Sequence analysis
Disulfide bondi293 ↔ 342PROSITE-ProRule annotation
Glycosylationi360 – 3601N-linked (GlcNAc...)Sequence analysis
Glycosylationi367 – 3671N-linked (GlcNAc...)Sequence analysis
Glycosylationi385 – 3851N-linked (GlcNAc...)Sequence analysis
Disulfide bondi401 ↔ 446PROSITE-ProRule annotation
Modified residuei565 – 5651PhosphotyrosineBy similarity
Modified residuei588 – 5881PhosphotyrosineBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ96PQ1.
PRIDEiQ96PQ1.

PTM databases

iPTMnetiQ96PQ1.
PhosphoSiteiQ96PQ1.

Expressioni

Tissue specificityi

Isoform Short is highly expressed in spleen, small intestine and adrenal gland; it is lower expressed in thyroid, placenta, brain, stomach, bone marrow, spinal chord and breast. Isoform Long is highly expressed in spleen, small intestine and bone marrow; it is lower expressed in thyroid, placenta, thymus, trachea, stomach, lung, adrenal gland, fetal brain and testis.

Gene expression databases

BgeeiQ96PQ1.
CleanExiHS_SIGLEC12.
ExpressionAtlasiQ96PQ1. baseline and differential.

Interactioni

Protein-protein interaction databases

BioGridi124623. 8 interactions.
STRINGi9606.ENSP00000291707.

Structurei

3D structure databases

ProteinModelPortaliQ96PQ1.
SMRiQ96PQ1. Positions 21-142, 151-362, 385-467.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini19 – 142124Ig-like V-type 1Add
BLAST
Domaini143 – 269127Ig-like V-type 2Add
BLAST
Domaini275 – 35884Ig-like C2-type 1Add
BLAST
Domaini365 – 46298Ig-like C2-type 2Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi563 – 5686ITIM motif
Motifi586 – 5916SLAM-like motif

Domaini

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJT6. Eukaryota.
ENOG410YKZU. LUCA.
GeneTreeiENSGT00760000119139.
HOGENOMiHOG000236324.
HOVERGENiHBG036161.
InParanoidiQ96PQ1.
KOiK10079.
OMAiTITWMGA.
OrthoDBiEOG73JKV5.
PhylomeDBiQ96PQ1.

Family and domain databases

Gene3Di2.60.40.10. 4 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF07686. V-set. 2 hits.
[Graphical view]
SMARTiSM00409. IG. 4 hits.
SM00408. IGc2. 3 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 4 hits.
PROSITEiPS50835. IG_LIKE. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: Q96PQ1-1) [UniParc]FASTAAdd to basket

Also known as: SLG-L

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLLLLLLLPP LLCGRVGAKE QKDYLLTMQK SVTVQEGLCV SVLCSFSYPQ
60 70 80 90 100
NGWTASDPVH GYWFRAGDHV SRNIPVATNN PARAVQEETR DRFHLLGDPQ
110 120 130 140 150
NKDCTLSIRD TRESDAGTYV FCVERGNMKW NYKYDQLSVN VTASQDLLSR
160 170 180 190 200
YRLEVPESVT VQEGLCVSVP CSVLYPHYNW TASSPVYGSW FKEGADIPWD
210 220 230 240 250
IPVATNTPSG KVQEDTHGRF LLLGDPQTNN CSLSIRDARK GDSGKYYFQV
260 270 280 290 300
ERGSRKWNYI YDKLSVHVTA LTHMPTFSIP GTLESGHPRN LTCSVPWACE
310 320 330 340 350
QGTPPTITWM GASVSSLDPT ITRSSMLSLI PQPQDHGTSL TCQVTLPGAG
360 370 380 390 400
VTMTRAVRLN ISYPPQNLTM TVFQGDGTAS TTLRNGSALS VLEGQSLHLV
410 420 430 440 450
CAVDSNPPAR LSWTWGSLTL SPSQSSNLGV LELPRVHVKD EGEFTCRAQN
460 470 480 490 500
PLGSQHISLS LSLQNEYTGK MRPISGVTLG AFGGAGATAL VFLYFCIIFV
510 520 530 540 550
VVRSCRKKSA RPAVGVGDTG MEDANAVRGS ASQGPLIESP ADDSPPHHAP
560 570 580 590
PALATPSPEE GEIQYASLSF HKARPQYPQE QEAIGYEYSE INIPK
Length:595
Mass (Da):64,984
Last modified:December 1, 2001 - v1
Checksum:iD05662176274C5C3
GO
Isoform Short (identifier: Q96PQ1-2) [UniParc]FASTAAdd to basket

Also known as: SLG-S

The sequence of this isoform differs from the canonical sequence as follows:
     4-141: LLLLLPPLLC...YKYDQLSVNV → PLLWANEERDSGGWADPRFS

Show »
Length:477
Mass (Da):51,663
Checksum:iD50A55248BD7A9EB
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti528 – 5281R → W in AAQ88507 (PubMed:12975309).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti81 – 811P → H.
Corresponds to variant rs2034891 [ dbSNP | Ensembl ].
VAR_049931
Natural varianti81 – 811P → T.
Corresponds to variant rs2034891 [ dbSNP | Ensembl ].
VAR_014259
Natural varianti82 – 821A → V.
Corresponds to variant rs3810110 [ dbSNP | Ensembl ].
VAR_049932
Natural varianti217 – 2171H → Q.
Corresponds to variant rs6509544 [ dbSNP | Ensembl ].
VAR_024501
Natural varianti218 – 2181G → R.
Corresponds to variant rs6509544 [ dbSNP | Ensembl ].
VAR_049933
Natural varianti398 – 3981H → Y.
Corresponds to variant rs11668530 [ dbSNP | Ensembl ].
VAR_049934
Natural varianti478 – 4781T → M.
Corresponds to variant rs3829658 [ dbSNP | Ensembl ].
VAR_020088
Natural varianti494 – 4941Y → S.
Corresponds to variant rs3752135 [ dbSNP | Ensembl ].
VAR_020089
Natural varianti546 – 5461P → Q.
Corresponds to variant rs57043266 [ dbSNP | Ensembl ].
VAR_061327
Natural varianti586 – 5861Y → C.
Corresponds to variant rs7245807 [ dbSNP | Ensembl ].
VAR_049935

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei4 – 141138LLLLL…LSVNV → PLLWANEERDSGGWADPRFS in isoform Short. CuratedVSP_002566Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF277806 Genomic DNA. Translation: AAK51233.1.
AF277806 Genomic DNA. Translation: AAK51234.1.
AF282256 mRNA. Translation: AAK71521.1.
AY358140 mRNA. Translation: AAQ88507.1.
BC035809 mRNA. Translation: AAH35809.2.
CCDSiCCDS12833.1. [Q96PQ1-1]
CCDS59416.1. [Q96PQ1-2]
RefSeqiNP_201586.1. NM_033329.2. [Q96PQ1-2]
NP_443729.1. NM_053003.3. [Q96PQ1-1]
XP_011525743.1. XM_011527441.1. [Q96PQ1-2]
UniGeneiHs.249741.

Genome annotation databases

EnsembliENST00000291707; ENSP00000291707; ENSG00000254521. [Q96PQ1-1]
ENST00000598614; ENSP00000472873; ENSG00000254521. [Q96PQ1-2]
GeneIDi89858.
KEGGihsa:89858.
UCSCiuc002pww.3. human. [Q96PQ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - Glycan Binding

Siglec-L1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF277806 Genomic DNA. Translation: AAK51233.1.
AF277806 Genomic DNA. Translation: AAK51234.1.
AF282256 mRNA. Translation: AAK71521.1.
AY358140 mRNA. Translation: AAQ88507.1.
BC035809 mRNA. Translation: AAH35809.2.
CCDSiCCDS12833.1. [Q96PQ1-1]
CCDS59416.1. [Q96PQ1-2]
RefSeqiNP_201586.1. NM_033329.2. [Q96PQ1-2]
NP_443729.1. NM_053003.3. [Q96PQ1-1]
XP_011525743.1. XM_011527441.1. [Q96PQ1-2]
UniGeneiHs.249741.

3D structure databases

ProteinModelPortaliQ96PQ1.
SMRiQ96PQ1. Positions 21-142, 151-362, 385-467.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124623. 8 interactions.
STRINGi9606.ENSP00000291707.

PTM databases

iPTMnetiQ96PQ1.
PhosphoSiteiQ96PQ1.

Polymorphism and mutation databases

BioMutaiSIGLEC12.
DMDMi25009264.

Proteomic databases

PaxDbiQ96PQ1.
PRIDEiQ96PQ1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000291707; ENSP00000291707; ENSG00000254521. [Q96PQ1-1]
ENST00000598614; ENSP00000472873; ENSG00000254521. [Q96PQ1-2]
GeneIDi89858.
KEGGihsa:89858.
UCSCiuc002pww.3. human. [Q96PQ1-1]

Organism-specific databases

CTDi89858.
GeneCardsiSIGLEC12.
HGNCiHGNC:15482. SIGLEC12.
MIMi606094. gene.
neXtProtiNX_Q96PQ1.
PharmGKBiPA37966.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJT6. Eukaryota.
ENOG410YKZU. LUCA.
GeneTreeiENSGT00760000119139.
HOGENOMiHOG000236324.
HOVERGENiHBG036161.
InParanoidiQ96PQ1.
KOiK10079.
OMAiTITWMGA.
OrthoDBiEOG73JKV5.
PhylomeDBiQ96PQ1.

Enzyme and pathway databases

ReactomeiR-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

Miscellaneous databases

GeneWikiiSialic_acid-binding_Ig-like_lectin_12.
GenomeRNAii89858.
PROiQ96PQ1.
SOURCEiSearch...

Gene expression databases

BgeeiQ96PQ1.
CleanExiHS_SIGLEC12.
ExpressionAtlasiQ96PQ1. baseline and differential.

Family and domain databases

Gene3Di2.60.40.10. 4 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF07686. V-set. 2 hits.
[Graphical view]
SMARTiSM00409. IG. 4 hits.
SM00408. IGc2. 3 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 4 hits.
PROSITEiPS50835. IG_LIKE. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and molecular characterization of two splice variants of a new putative member of the Siglec-3-like subgroup of Siglecs."
    Foussias G., Taylor S.M., Yousef G.M., Tropak M.B., Ordon M.H., Diamandis E.P.
    Biochem. Biophys. Res. Commun. 284:887-899(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS LONG AND SHORT).
    Tissue: Bone marrow.
  2. "A second uniquely human mutation affecting sialic acid biology."
    Angata T., Varki N.M., Varki A.
    J. Biol. Chem. 276:40282-40287(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
    Tissue: Blood.

Entry informationi

Entry nameiSIG12_HUMAN
AccessioniPrimary (citable) accession number: Q96PQ1
Secondary accession number(s): Q8IYH7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2002
Last sequence update: December 1, 2001
Last modified: June 8, 2016
This is version 145 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.