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KIR3DL1 Gene

protein-coding   GIFtS: 68
GCID: GC19P055278

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


(Previous symbol: KIR)
  See KIR3DL1-related diseases
at  

(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, Long
Cytoplasmic Tail, 11 2
     KIR3DL1/S12
NKAT32 3 5     NK-receptor2
NKB12 3 5     NKB1B2
KIR1 2     Killer Cell Immunoglobulin-Like Receptor 3DL12
Natural Killer-Associated Transcript 32 3     Killer Ig Receptor2
NKAT-32 3     KIR Antigen 3DL12
CD158 Antigen-Like Family Member E2 3     P70 Killer Cell Inhibitory Receptor2
HLA-BW4-Specific Inhibitory NK Cell Receptor2 3     CD158E3
MHC Class I NK Cell Receptor2 3     CD158e Antigen3
P70 Natural Killer Cell Receptor Clones CL-2/CL-112 3     AMB115
P70 NK Receptor CL-2/CL-112 3     KIR3DS15
CD158E12     

External Ids:    HGNC: 63381   Entrez Gene: 38112   Ensembl: ENSG000001676337   OMIM: 6049465   UniProtKB: P436293   

Export aliases for KIR3DL1 gene to outside databases

Previous GC identifers: GC19P056190 GC19P055662 GC19P060003 GC19P060009 GC19P060019 GC19P059929 GC19P055327 GC19P051650 GC19P055253 GC19P055257 GC19P055262 GC19P055268 GC19P055274


(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 KIR3DL1 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. (provided by RefSeq, Jul 2008)

GeneCards Summary for KIR3DL1 Gene:
KIR3DL1 (killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1) is a protein-coding gene. Diseases associated with KIR3DL1 include aids, delayed/rapid progression to, and birdshot chorioretinopathy. GO annotations related to this gene include HLA-B specific inhibitory MHC class I receptor activity. An important paralog of this gene is LILRB4.

UniProtKB/Swiss-Prot: KI3L1_HUMAN, P43629
Function: Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus
preventing cell lysis

Gene Wiki entry for KIR3DL1 Gene


(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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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  NT_113949.2  NT_187636.1  NT_187637.1  NT_187638.1  NT_187639.1  
NT_187640.1  NT_187641.1  NT_187642.1  NT_187643.1  NT_187644.1  NT_187645.1  NT_187668.1  NT_187669.1  
NT_187670.1  NT_187671.1  NT_187672.1  NT_187673.1  NT_187674.1  NT_187675.1  NT_187676.1  NT_187677.1  
NT_187683.1  NT_187684.1  NT_187685.1  NT_187686.1  NT_187687.1  NT_187693.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIR3DL1 gene promoter:
         STAT1   STAT1beta   STAT5A   STAT1alpha   YY1   CREB   deltaCREB   STAT2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KIR3DL1 promoter sequence
   Search Chromatin IP Primers for KIR3DL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIR3DL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

KIR3DL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIR3DL1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P055278:  view genomic region     (about GC identifiers)

Start:
55,235,969 bp from pter      End:
55,378,448 bp from pter
Size:
142,480 bases      Orientation:
plus strand

3 alternative locations:
Chr19+,NW_003571056 753,982-759,447      Chr19+,NW_003571055 434,303-449,026      Chr19+,NW_003571060 720,804-735,147     

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KI3L1_HUMAN, P43629 (See protein sequence)
Recommended Name: Killer cell immunoglobulin-like receptor 3DL1 precursor  
Size: 444 amino acids; 49098 Da
1 PDB 3D structure from and Proteopedia for KIR3DL1:
3VH8 (3D)    
Secondary accessions: O43473 Q14946 Q16541
Alternative splicing: 2 isoforms:  P43629-1   P43629-2   

Explore the universe of human proteins at neXtProt for KIR3DL1: NX_P43629

Explore proteomics data for KIR3DL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn92, Asn179, Asn273
  • Modification sites at PhosphoSitePlus

  • See KIR3DL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_037421.2  
    ENSEMBL proteins: 
     ENSP00000375608   ENSP00000326868   ENSP00000350901   ENSP00000384528   ENSP00000443350  
     ENSP00000442355  
    Reactome Protein details: P43629

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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:
    CD: CD molecules
    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 P43629

    ProtoNet protein and cluster: P43629

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: KI3L1_HUMAN, P43629
    Similarity: Belongs to the immunoglobulin superfamily
    Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with KIR3DL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KI3L1_HUMAN, P43629
    Function: Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus
    preventing cell lysis

         Genatlas biochemistry entry for KIR3DL1:
    natural killer cell immunoglobulin-like inhibitory receptor for HLA-B antigens,3DL1,70kDa,with several
    alternatively spliced (truncated) forms

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030109HLA-B specific inhibitory MHC class I receptor activity NAS7650366
         
    Find genes that share ontologies with KIR3DL1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for KIR3DL1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased G1 DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KIR3DL1

    miRNA
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    miRTarBase miRNAs that target KIR3DL1:
    hsa-mir-132-3p (MIRT021728)

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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
    KI3L1_HUMAN, P43629: Cell membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS7716543

    Find genes that share ontologies with KIR3DL1           About GenesLikeMe


    (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 KIR3DL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Immune response Role of DAP12 receptors in NK cells
    Immune response Role of DAP12 receptors in NK cells0.33
    Natural killer cell mediated cytotoxicity0.31
    2Allograft rejection
    Graft-versus-host disease0.65
    Antigen processing and presentation0.36
    3Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    4Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation
    5Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell


    Find genes that share SuperPaths with KIR3DL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for KIR3DL1
        Immune response Role of DAP12 receptors in NK cells

    1 BioSystems Pathway for KIR3DL1
        Validated targets of C-MYC transcriptional activation


    1 Reactome Pathway for KIR3DL1
        Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell


    3 Kegg Pathways  (Kegg details for KIR3DL1):
        Antigen processing and presentation
    Natural killer cell mediated cytotoxicity
    Graft-versus-host disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIR3DL1
    Interactions:

        GeneGlobe Interaction Network for KIR3DL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for KIR3DL1 (P436293 ENSP000003756084) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000237216P176933, ENSP000004091324I2D: score=1 STRING: ENSP00000409132
    ENSG00000206506P176933I2D: score=1 
    ENSG00000230413P176933I2D: score=1 
    ENSG00000233095P176933I2D: score=1 
    ENSG00000235346P176933I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS7716543
    GO:0007165signal transduction NAS7650366
    GO:0050776regulation of immune response TAS--

    Find genes that share ontologies with KIR3DL1           About GenesLikeMe



    (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
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    Browse Tocris compounds for KIR3DL1 (KI3L1)

    Selected Novoseek inferred chemical compound relationships for KIR3DL1 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 32 46 8986721 (3), 12794140 (3), 11513144 (3), 9236201 (2) (see all 22)
    5-aza-2'deoxycytidine 12.3 3 12538663 (1), 16237090 (1), 19922420 (1)
    oligonucleotide 9.03 4 17445176 (1), 12209364 (1), 12694580 (1), 11844144 (1)
    lipid 4.66 3 9751747 (1), 15265884 (1)
    potassium 3.73 1 10462549 (1)
    atp 1.81 1 15320752 (1)
    hydrogen 1.54 2 11256749 (1)
    isoleucine 0.94 4 12134147 (1), 17411378 (1), 17022732 (1)
    lysine 0 1 9293775 (1)
    phosphotyrosine 0 1 9079806 (1)



    Find genes that share compounds with KIR3DL1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KIR3DL1 gene: 
    NM_013289.2  

    Unigene Cluster for KIR3DL1:

    Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
    Hs.645228  [show with all ESTs]
    Unigene Representative Sequence: NM_013289
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391728(uc021vbm.1 uc010esf.3 uc021vbo.1 uc002qhk.4)
    ENST00000326542 ENST00000358178 ENST00000402254(uc002qhl.4) ENST00000538269
    ENST00000541392
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      QuantiFast Probe-based Assays in human, mouse, rat KIR3DL1

    Additional mRNA sequence: 

    AF022049.1 AF103010.1 AF103011.1 AF103012.1 AF103013.1 AF208688.1 AF208689.1 AF262968.1 
    AF262969.1 AF262970.1 AF262971.1 AF262972.1 AF262973.1 AF262974.1 AJ417556.1 AJ417557.1 
    AY059417.1 AY366236.1 AY366249.1 AY366250.1 AY366251.1 AY366252.1 AY366253.1 AY366254.1 
    AY366255.1 AY760050.1 AY789065.1 AY789066.1 AY789072.1 BC028206.1 BC101540.1 BC101542.1 
    BC105678.1 BC107951.1 DQ178659.1 EF462885.1 EF472674.1 EF472675.1 EF472676.1 EF472677.1 
    EF472678.1 EF472679.1 L41269.1 L76664.1 U30273.1 U30274.1 U31416.1 U33328.1 
    X94262.1 X97230.1 

    4 DOTS entries:

    DT.455734  DT.310897  DT.92058638  DT.95344541 

    Selected AceView cDNA sequences (see all 93):

    AF208054 AY223515 AY052497 AF285434 AY366242 AF034773 AY052498 BV203728 
    BI908736 AF002256 BV204359 BI911888 AF272389 U73394 AF034772 X99479 
    BV206441 AY223513 AF022044 BV199098 X99480 AF002979 AF002981 BV183860 

    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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    KIR3DL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGCCCTCC
    KIR3DL1 Expression
    About this image


    KIR3DL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Natural Killer Cells Peripheral Blood
             Natural killer-like cells
             lymphocytes   
    KIR3DL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIR3DL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.645228
        Custom PCR Arrays for KIR3DL1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIR3DL1

    (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 KIR3DL1 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
    17(a)
    1 → many
    GL343329.1(1197670-1218701)
            Species with no ortholog for KIR3DL1

    ENSEMBL Gene Tree for KIR3DL1 (if available)
    TreeFam Gene Tree for KIR3DL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIR3DL1 gene
    LILRB42  KIR2DL42  LILRB12  KIR2DS42  LILRA62  LILRA52  IGSF12  OSCAR2  
    NCR12  LILRA42  ENSG000002177922  TARM12  KIR3DX12  LILRA32  LILRB52  KIR3DL32  
    LILRA12  KIR3DS12  KIR2DL12  A1BG2  LILRB22  KIR3DL22  LILRA22  KIR2DL32  
    FCAR2  GP62  LILRB32  
    Selected SIMAP similar genes for KIR3DL1 using alignment to 61 protein entries:     KI3L1_HUMAN (see all proteins) (see all similar genes):
    KIR3DSL1    KIR3DL1/2V    KIR-123FM    KIR3DS1    KIR-G1    KIR411
    KIR3DL2    KIR221    kir3d    KIR-K39    KIR2DL3    KIR-K15
    KIR-K36    KIR2DL2    p140    KIR2DP1DL1    KIR2DL1    KIR2DS2

    Find genes that share paralogs with KIR3DL1           About GenesLikeMe



    (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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    Selected SNPs for KIR3DL1 (see all 902)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1808478801,2
    C--55303315(+) AGTGTA/GTTGAA 1 -- int10--------
    rs3727975371,2
    C--55304326(+) CTATCA/G/TATGGT 1 -- int10--------
    rs3724360511,2
    C--55305168(+) CATGAA/GTATGT 1 -- int10--------
    rs1170699701,2
    C--55305579(+) TGCAGA/GTATTT 1 -- int10--------
    rs1871964411,2
    C--55306477(+) TTTCTC/GTTTGG 1 -- int10--------
    rs3763998351,2
    C--55306645(+) TCCAGG/TTATGT 1 -- int10--------
    rs1508876261,2
    C--55306805(+) ATAGCA/GTGATG 1 -- int10--------
    rs1500739811,2
    C--55307086(+) TACAGA/CTCTTT 1 -- int10--------
    rs1171030421,2
    C--55307364(+) TTTTAA/CTTCTT 1 -- int10--------
    rs1904807341,2
    C--55307719(+) AACAAA/GCATCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for KIR3DL1 (55235969 - 55378448 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KIR3DL1 (see all 44):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667609CNV Deletion23128226
    esv2661467CNV Deletion23128226
    esv2421952CNV Deletion20811451
    esv2718930CNV Deletion23290073
    esv2718872CNV Deletion23290073
    dgv668e199CNV Deletion23128226
    dgv575e201CNV Deletion23290073
    dgv577e201CNV Deletion23290073
    dgv667e199CNV Deletion23128226
    esv2718931CNV Deletion23290073

    Human Gene Mutation Database (HGMD): KIR3DL1
    Locus Specific Mutation Databases (LSDB): KIR3DL1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604946   
    OMIM disorders: 609423  
    4 diseases for KIR3DL1:    
    About MalaCards
    aids, delayed/rapid progression to    birdshot chorioretinopathy    hematopoietic stem cell transplantation    behcet's disease

    1 disease from the University of Copenhagen DISEASES database for KIR3DL1:
    Acquired immunodeficiency syndrome

    Find genes that share disorders with KIR3DL1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for KIR3DL1 gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    graft-versus-host disease 57.2 8 16864058 (1), 16399580 (1), 17445182 (1), 15157342 (1) (see all 8)
    acute graft-versus-host disease 55.2 2 16131567 (1), 15935882 (1)
    hematologic malignancies 51.2 17 18269867 (2), 19857587 (1), 19961944 (1), 16864053 (1) (see all 8)
    tumor escape 45.5 1 12472656 (1)
    leukemia 41.6 42 17490516 (3), 17060849 (2), 19664139 (2), 17445161 (2) (see all 22)
    myeloid leukemia 35.5 3 14504099 (2), 15536148 (1), 17708809 (1)
    virus infection 34.8 10 15809348 (1), 16084708 (1), 19118512 (1), 16571411 (1) (see all 10)
    autoimmune diseases 31.4 6 15719024 (1), 16263420 (1), 18976447 (1), 16123537 (1) (see all 5)
    autoimmunity 31.1 5 15809348 (1), 20035856 (1), 17445178 (1), 17464504 (1) (see all 5)
    myeloid leukemia chronic 27.9 4 17339492 (1), 15731175 (1), 18718052 (1)

    Genetic Association Database (GAD): KIR3DL1
    Human Genome Epidemiology (HuGE) Navigator: KIR3DL1 (109 documents)

    Export disorders for KIR3DL1 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 KIR3DL1 gene, integrated from 10 sources (see all 479):
    (articles sorted by number of sources associating them with KIR3DL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells. (PubMed id 7716543)1, 2, 3 Colonna M. and Samaridis J. (Science 1995)
    2. [Distribution of immunoglobulin like receptor gene in Han population in China and the impact thereof on the HLA-identical sibling hematopoietic stem cell transplantation]. (PubMed id 18269867)1, 4, 9 Dou L.P....Yu L. (Zhonghua Yi Xue Za Zhi 2007)
    3. Human diversity in killer cell inhibitory receptor genes. (PubMed id 9430221)1, 2, 9 Uhrberg M.... Parham P. (Immunity 1997)
    4. KIR genes and KIR ligands affect occurrence of acute GVHD after unrelated, 12/12 HLA matched, hematopoietic stem cell transplantation. (PubMed id 19169284)1, 4, 9 Ludajic K....Greinix H.T. (Bone Marrow Transplant. 2009)
    5. [Analysis of natural killer cell immunoglobulin-like receptor genes in Chinese]. (PubMed id 19218127)1, 4, 9 Fu S.J....Deng W.F. (Nan Fang Yi Ke Da Xue Xue Bao 2009)
    6. KIR3DL1/S1 genotypes and KIR2DS4 allelic variants in the AB KIR genotypes are associated with Plasmodium-positive individuals in malaria infection. (PubMed id 19859704)1, 4, 9 Taniguchi M. and Kawabata M. (Immunogenetics 2009)
    7. Analysis of killer immunoglobulin-like receptor genes in ankylosing spondylitis. (PubMed id 19019897)1, 4, 9 Harvey D....Wordsworth B.P. (Ann. Rheum. Dis. 2009)
    8. Asian population frequencies and haplotype distribution of killer cell immunoglobulin-like receptor (KIR) genes among Chinese, Malay, and Indian in Singapore. (PubMed id 18668235)1, 4, 9 Lee Y.C....Ren E.C. (Immunogenetics 2008)
    9. Interaction between KIR3DL1 and HLA-B*57 supertype alleles influences the progression of HIV-1 infection in a Zambian population. (PubMed id 15784466)1, 4, 9 LA^pez-VA!zquez A....LA^pez-Larrea C. (Hum. Immunol. 2005)
    10. KIR and HLA genotypes are associated with disease progression and survival following autologous hematopoietic stem cell transplantation for high-risk neuroblastoma. (PubMed id 19934297)1, 4, 9 Venstrom J.M....Hsu K.C. (Clin. Cancer Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3811 HGNC: 6338 AceView: KIR2DL4 Ensembl:ENSG00000167633 euGenes: HUgn3811
    ECgene: KIR3DL1 Kegg: 3811 H-InvDB: KIR3DL1

    (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 KIR3DL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KIR3DL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIR3DL1 gene:
    Search GeneIP for patents involving KIR3DL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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