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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIR3DL1 Gene

protein-coding   GIFtS: 66
GCID: GC19P055274

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


(Previous symbol: KIR)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hematopoietic stem cell transplantation, and aids, delayed/rapid progression to, and among its related super-pathways are Immune response Role of DAP12 receptors in NK cells and Allograft rejection. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KIR3DL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC19P055274:  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_003571055 434,303-449,026      Chr19+,NW_003571056 753,982-759,447      Chr19+,NW_003571060 720,804-735,147     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KI3L1_HUMAN, P43629 (See protein sequence)
Recommended Name: Killer cell immunoglobulin-like receptor 3DL1 precursor  
Size: 444 amino acids; 49098 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P43629

  • KIR3DL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIR3DL1 Protein Expression
    REFSEQ proteins: NP_037421.2  
    ENSEMBL proteins: 
     ENSP00000375608   ENSP00000326868   ENSP00000350901   ENSP00000384528   ENSP00000443350  
     ENSP00000442355  
    Reactome Protein details: P43629
    Human Recombinant Protein Products for KIR3DL1: 
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    ProSpec Recombinant Protein for KIR3DL1
    Cloud-Clone Corp. Proteins for KIR3DL1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    KIR3DL1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    KIR3DL1 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030109HLA-B specific inhibitory MHC class I receptor activity NAS7650366
         
    KIR3DL1 for ontologies           About GeneDecksing


    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:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KIR3DL1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KIR3DL1 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIR3DL1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KIR3DL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Immune response Fc epsilon RI pathway
    Immune response Role of DAP12 receptors in NK cells0.32
    Natural killer cell mediated cytotoxicity0.31
    2Allograft rejection
    Graft-versus-host disease0.65
    Antigen processing and presentation0.37
    3Immune System
    Immune System0.56
    Adaptive Immune System0.56
    4Classical antibody-mediated complement activation
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell0.30
    5Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KIR3DL1
        Immune response Role of DAP12 receptors in NK cells


    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


    3        Reactome Pathways for KIR3DL1
        Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Adaptive Immune System
    Immune System


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


    KIR3DL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KIR3DL1

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

    5/18 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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS7716543
    GO:0050776regulation of immune response TAS--

    KIR3DL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KIR3DL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIR3DL1 (KI3L1)

    10/15 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)

    Search CenterWatch for drugs/clinical trials and news about KIR3DL1 / KI3L1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    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 

    24/93 AceView cDNA sequences (see all 93):

    AY223515 AF208054 AY052497 AY052498 AY366242 AF285434 AF034773 X97232 
    X99481 AF002979 AY223513 AF276292 U73394 AY366248 BV203728 BV206442 
    AY366247 L41347 AF002981 BV204359 U24075 X99479 AF135566 AY250088 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KIR3DL1 expression in normal human tissues (normalized intensities)      KIR3DL1 embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Natural killer-like cells ( Derivation of hematopoietic progenitor cells and natural...
             lymphocytes   

    See KIR3DL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIR3DL1

    SOURCE GeneReport for Unigene cluster: Hs.645228
        SABiosciences Custom PCR Arrays for KIR3DL1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIR3DL1
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KIR3DL1 gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 62)
    --
    28(a)
    28(a)
    (see all 62)
    many ↔ many
    many ↔ many
    (see all 62)
    AADN03017457.1(21-1316)
    JH376031.1(1010-2265)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    13(a)
    11(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    GL343329.1(1197670-1218701)
    GL343329.1(1229430-1238742)
            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)
    About This Section
    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  
    18/58 SIMAP similar genes for KIR3DL1 using alignment to 60 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    KIR2DL2
    KIR-K15    KIR-K36    p140    KIR2DP1DL1    KIR2DL1    KIR2DS2

    KIR3DL1 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/902 SNPs in KIR3DL1 are shown (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
    ----------
    VAR_0499884
    ----see VAR_0499882 P L mis40--------
    VAR_0103194
    ----see VAR_0103192 S L mis40--------
    VAR_0103214
    ----see VAR_0103212 M V mis40--------
    VAR_0103204
    ----see VAR_0103202 L F mis40--------
    VAR_0103224
    ----see VAR_0103222 I V mis40--------
    VAR_0103244
    ----see VAR_0103242 S C mis40--------
    VAR_0103364
    ----see VAR_0103362 G R mis40--------
    VAR_0499874
    ----see VAR_0499872 P S mis40--------
    rs1808478801,2
    C--55303315(+) AGTGTA/GTTGAA 1 -- int10--------
    rs3727975371,2
    C--55304326(+) CTATCA/G/TATGGT 1 -- int10--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/44 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KIR3DL1
    DNA2.0 Custom Variant and Variant Library Synthesis for KIR3DL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604946   
    OMIM disorders: 609423  
    20/75 diseases for KIR3DL1 (see all 75):    About MalaCards
    hematopoietic stem cell transplantation    aids, delayed/rapid progression to    birdshot chorioretinopathy    behcet's disease
    acute graft versus host disease    microscopic polyangiitis    graft versus host disease    ankylosing spondylitis
    anterior uveitis    adenomyosis    juvenile myelomonocytic leukemia    vogt-koyanagi-harada disease
    sclerosing cholangitis    primary sclerosing cholangitis    leptospirosis    tropical spastic paraparesis
    spastic paraparesis    spondyloarthropathy    cholangitis    bronchiolitis obliterans

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

    KIR3DL1 for disorders           About GeneDecksing

    10/37 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)
    About This Section

    PubMed articles for KIR3DL1 gene, integrated from 9 sources (see all 476):
    (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. (1995)
    2. [Distribution of immunoglobulinlike 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. (2007)
    3. Human diversity in killer cell inhibitory receptor genes. (PubMed id 9430221)1, 2, 9 Uhrberg M.... Parham P. (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. (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. (2009)
    6. KIR3DL1/S1 genotypes and KIR2DS4 allelic variants in the AB KIR genotypes are associated with Plasmodium-positive individuals in mal aria infection. (PubMed id 19859704)1, 4, 9 Taniguchi M. and Kawabata M. (2009)
    7. Analysis of killer immunoglobulin-like receptor (KIR) genes in ankylosing spondylitis. (PubMed id 19019897)1, 4, 9 Harvey D....Wordsworth B.P. (2008)
    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. (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 Lopez-Vazquez A....Lopez-Larrea C. (2005)
    10. KIR and HLA genotypes are associated with disease pro gression and survival following autologous hematopoietic stem cell transplantat ion for high-risk neuroblastoma. (PubMed id 19934297)1, 4, 9 Venstrom J.M....Hsu K.C. (2009)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 3811 HGNC: 6338 AceView: KIR2DL4 Ensembl:ENSG00000167633 euGenes: HUgn3811
    ECgene: KIR3DL1 Kegg: 3811 H-InvDB: KIR3DL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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