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KIR3DS1 Gene

protein-coding   GIFtS: 41
GCID: GC19P9I0030

Killer Cell Immunoglobulin-Like Receptor, Three Domains,...

Pneumococci & Pneumococcal Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Killer Cell Immunoglobulin-Like Receptor, Three Domains, Short
Cytoplasmic Tail, 11 2
     Killer Cell Immunoglobulin-Like Receptor 3DS12
Natural Killer-Associated Transcript 102 3     Killer Cell Immunoglobulin-Like Receptor KIR3DS12
NKAT-102 3     Killer Ig Receptor2
NKAT102 3     AMB115
MHC Class I NK Cell Receptor2 3     KIR3DL15
CD158E22     NKAT35
KIR-123FM2     NKB15
KIR-G12     

External Ids:    HGNC: 63401   Entrez Gene: 38132   Ensembl: ENSG000002157647   OMIM: 6049465   UniProtKB: Q149433   

Export aliases for KIR3DS1 gene to outside databases

Previous GC identifers: GC19U990059 GC19P060011 GC00P000070 GC19P000070 GC00U921579 GC19P060021 GC19P9I0071 GC19P9I0072 GC19P9I0073 GC19P9I0074 GC19P9I0010 GC19P9I0012 GC19P9I0014 GC19P9I0016 GC19P9I0018 GC19P9I0020


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KIR3DS1 Gene:
Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells
and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on
chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster
varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1,
KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or
3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic
domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM),
while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO
protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are
subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the
immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Aug 2013)

GeneCards Summary for KIR3DS1 Gene:
KIR3DS1 (killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1) is a protein-coding gene. Diseases associated with KIR3DS1 include aids, delayed/rapid progression to, and birdshot chorioretinopathy. GO annotations related to this gene include MHC class I receptor activity. An important paralog of this gene is LILRB4.

UniProtKB/Swiss-Prot: KI3S1_HUMAN, Q14943
Function: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for KIR3DS1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KIR3DS1 promoter sequence
   Search Chromatin IP Primers for KIR3DS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIR3DS1


Genomic Location:
Chromosome:19   

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19_GL000209.1   HGNC cytogenetic band: 19q13.4 alternate reference locus

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P9I0030:       (about GC identifiers)

Start:
70,097 bp from start of contig NT_113949      End:
84,658 bp from start of contig NT_113949
Size:
14,562 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KI3S1_HUMAN, Q14943 (See protein sequence)
Recommended Name: Killer cell immunoglobulin-like receptor 3DS1 precursor  
Size: 387 amino acids; 42902 Da

Explore the universe of human proteins at neXtProt for KIR3DS1: NX_Q14943

Explore proteomics data for KIR3DS1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn92, Asn179, Asn273

  • See KIR3DS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001077008.1  NP_001269099.1  NP_001269100.1  

    ENSEMBL proteins: 
     ENSP00000375611   ENSP00000383645   ENSP00000383649   ENSP00000383672   ENSP00000343498  
     ENSP00000383652   ENSP00000383651   ENSP00000383650   ENSP00000383646   ENSP00000383644  
    Reactome Protein details: Q14943

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KIR: Killer cell immunoglobulin-like receptors
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    3 InterPro protein domains:
     IPR003599 Ig_sub
     IPR013783 Ig-like_fold
     IPR013151 Immunoglobulin

    Graphical View of Domain Structure for InterPro Entry Q14943

    ProtoNet protein and cluster: Q14943

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: KI3S1_HUMAN, Q14943
    Similarity: Belongs to the immunoglobulin superfamily
    Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains


    KIR3DS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KI3S1_HUMAN, Q14943
    Function: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells

         Genatlas biochemistry entry for KIR3DS1:
    natural killer cell immunoglobulin-like activating receptor for HLA-B antigens,3DS1,70kDa,with alternatively
    spliced forms

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032393MHC class I receptor activity NAS8662091
         
    KIR3DS1 for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KI3S1_HUMAN, Q14943: Cell membrane; Single-pass type I membrane protein

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS8662091
    GO:0016021integral component of membrane ----

    KIR3DS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KIR3DS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling by FGFR
    DAP12 interactions0.89

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for KIR3DS1
        DAP12 interactions



    KIR3DS1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIR3DS1
    Interactions:

        GeneGlobe Interaction Network for KIR3DS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for KIR3DS1 (ENSP000003836454) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLA-CENSP000003654024STRING: ENSP00000365402
    FCER1GENSP000002899024STRING: ENSP00000289902
    HLA-BENSP000003991684STRING: ENSP00000399168
    HLA-GENSP000003534724STRING: ENSP00000353472
    PTPN11ENSP000003409444STRING: ENSP00000340944
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS8662091
    GO:0007165signal transduction NAS8662091
    GO:0030101natural killer cell activation NAS8662091
    GO:0045087innate immune response TAS--

    KIR3DS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIR3DS1 (KI3S1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KIR3DS1 gene (3 alternative transcripts): 
    NM_001083539.2  NM_001282170.1  NM_001282171.1  

    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391731 ENST00000400847 ENST00000400851(uc002qtv.3 uc010evf.3)
    ENST00000400875(uc010euy.2) ENST00000344867(uc002qtt.2 uc002qts.2)
    ENST00000400854(uc010evd.3 uc002quc.4) ENST00000400853(uc002qud.4)
    ENST00000400852(uc002quh.4 uc002que.4 uc002quf.4 uc010eve.3 uc002qug.4)
    ENST00000400848(uc010yic.2 uc021vdb.1 uc010yie.2 uc010evg.1 uc010evh.1 uc002qui.2)
    ENST00000400846(uc002quk.1)

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      Search QuantiTect SYBR Green Assays in human, mouse, rat KIR3DS1
      QuantiFast Probe-based Assays in human, mouse, rat KIR3DS1

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KIR3DS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIR3DS1 Expression
    About this image

    KIR3DS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIR3DS1 Protein Expression

    UniProtKB/Swiss-Prot: KI3S1_HUMAN, Q14943
    Tissue specificity: Expressed in NK and T-cell lines but not in B-lymphoblastoid cell lines or in a colon
    carcinoma cell line

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KIR3DS1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    16(a)
    1 → many
    GL343329.1(1197670-1218701)
            Species with no ortholog for KIR3DS1

    ENSEMBL Gene Tree for KIR3DS1 (if available)
    TreeFam Gene Tree for KIR3DS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIR3DS1 gene
    LILRB42  KIR2DL42  LILRB12  KIR2DS42  LILRA62  LILRA52  IGSF12  KIR3DL12  
    OSCAR2  NCR12  LILRA42  ENSG000002177922  TARM12  KIR3DX12  LILRA32  LILRB52  
    KIR3DL32  LILRA12  KIR2DL12  A1BG2  LILRB22  KIR3DL22  LILRA22  KIR2DL32  
    FCAR2  GP62  LILRB32  
    Selected SIMAP similar genes for KIR3DS1 using alignment to 11 protein entries:     KI3S1_HUMAN (see all proteins) (see all similar genes):
    KIR-G1    KIR-123FM    KIR3DSL1    KIR3DL1    KIR3DL1/2V    KIR411
    KIR-K39    KIR3DL2    KIR221    KIR-K36    kir3d    KIR2DS2
    KIR-K15    KIR-G2    KIR2DS1    KIR-K64    KIR2DS4    KIR2DL3

    KIR3DS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    KI3S1_HUMAN, Q14943: The KIR genes are located in a segment of DNA on 19q13.4 in the leukocyte receptor complex that has
    undergone expansion and contraction over time, probably through unequal crossing-over. Thus, KIR haplotypes vary
    in the number and types of genes, although a few framework loci, such as the gene KIR3DL1, are present on all or
    nearly all haplotypes. KIR3DL1 and KIR3DS1 segregate as alleles of the locus KIR3DL1/3DS1


    6 SNPs for KIR3DS1    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs6808911,2,4
    ----see VAR_0560962 mis40--------
    VAR_0103774
    ----see VAR_0103772 R H mis40--------
    rs6052191,2,4
    ----see VAR_0560932 mis40--------
    rs22737311,2,4
    ----see VAR_0560952 mis40--------
    rs10492151,2,4
    ----see VAR_0560972 mis40--------
    rs455564311,2,4
    ----see VAR_0560942 mis40--------

    HapMap Linkage Disequilibrium report for KIR3DS1 (70097 - 84658 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KIR3DS1: --
    Human Gene Mutation Database (HGMD): KIR3DS1
    Locus Specific Mutation Databases (LSDB): KIR3DS1

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing KIR3DS1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604946   
    OMIM disorders: 609423  
    Selected diseases for KIR3DS1 (see all 54):    
    About MalaCards
    aids, delayed/rapid progression to    birdshot chorioretinopathy    hematopoietic stem cell transplantation    microscopic polyangiitis
    ankylosing spondylitis    spondyloarthropathy    leptospirosis    anterior uveitis
    vogt-koyanagi-harada disease    pulmonary tuberculosis    type 1 diabetes mellitus    hepatitis b virus infection
    tropical spastic paraparesis    spastic paraparesis    type 1 diabetes    recurrent respiratory papillomatosis
    uveitis    spondylitis    familial mediterranean fever    pemphigus foliaceus


    KIR3DS1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): KIR3DS1
    Human Genome Epidemiology (HuGE) Navigator: KIR3DS1 (115 documents)

    Export disorders for KIR3DS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KIR3DS1 gene, integrated from 10 sources (see all 128):
    (articles sorted by number of sources associating them with KIR3DS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alternatively spliced forms of human killer inhibitory receptors. (PubMed id 8662091)1, 2, 3 Doehring C.... Colonna M. (Immunogenetics 1996)
    2. Association of killer cell immunoglobulin-like receptor 2DL5 with systemic lupus erythematosus and accompanying infections. (PubMed id 20371502)1, 4 Kimoto Y....Harada M. (Rheumatology (Oxford) 2010)
    3. Immunogenetic characteristics of patients with autoimmune gastritis. (PubMed id 20082482)1, 4 Oksanen A.M....Partanen J.A. (World J. Gastroenterol. 2010)
    4. Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection. (PubMed id 20878400)1, 4 Wauquier N....Vieillard V. (Immunogenetics 2010)
    5. Association of the KIR3DS1*013 and KIR3DL1*004 alleles with susceptibility to ankylosing spondylitis. (PubMed id 20131260)1, 4 DA-az-PeA+a R....LA^pez-Larrea C. (Arthritis Rheum. 2010)
    6. Influence of HLA class I and HLA-KIR compound genotypes on HIV-2 infection and markers of disease progression in a Manjako community in West Africa. (PubMed id 20519398)1, 4 Yindom L.M....Carrington M. (J. Virol. 2010)
    7. Killer cell immunoglobulin-like receptors in HLA-B27-associated acute anterior uveitis, with and without axial spondyloarthropathy. (PubMed id 19850842)1, 4 Levinson R.D....Rajalingam R. (amp 2010)
    8. Contribution of functional KIR3DL1 to ankylosing spondylitis. (PubMed id 20818412)1, 4 Zvyagin I.V....Chudakov D.M. (amp 2010)
    9. Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection. (PubMed id 19846535)1, 4 Vidal-CastiA+eira J.R....LA^pez-Larrea C. (J. Virol. 2010)
    10. Killer cell immunoglobulin-like receptor gene polymorphisms in patients with leukemia: possible association with susceptibility to the disease. (PubMed id 19450876)1, 4 Zhang Y....Qi J. (Leuk. Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3813 HGNC: 6340 Ensembl:ENSG00000215764 euGenes: HUgn3813 ECgene: KIR3DS1
    H-InvDB: KIR3DS1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KIR3DS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIR3DS1 gene:
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    GeneCards and IP:
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