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

KIR3DS1 Gene

protein-coding   GIFtS: 47
GCID: GC19P9I0018

killer cell immunoglobulin-like receptor, three domains,...

 Explore 45 diseases affiliated with
KIR3DS1 via our new
 Human Malady Compendium 
Biological research products
for KIR3DS1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Killer Cell Immunoglobulin-Like Receptor, Three Domains, Short Cytoplasmic
Tail, 11 2
     KIR-G12
Natural Killer-Associated Transcript 102 3     Killer Cell Immunoglobulin-Like Receptor 3DS12
NKAT-102 3     Killer Cell Immunoglobulin-Like Receptor KIR3DS12
NKAT102 3     Killer Ig Receptor2
MHC Class I NK Cell Receptor2 3     AMB115
Nkat101     KIR3DL15
CD158E22     NKAT35
KIR-123FM2     NKB15

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


(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 KIR3DS1:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:NT_113949.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KIR3DS1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KIR3DS1 promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GRCh37 novel patch

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P9I0018:  view genomic region     (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

1 alternative location:
Chr19+,GL000209.1 7,891-96,246     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KI3S1_HUMAN, Q14943 (See protein sequence)
Recommended Name: Killer cell immunoglobulin-like receptor 3DS1 precursor  
Size: 387 amino acids; 42902 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14943

  • KIR3DS1 Protein expression data from MOPED and PaxDb:    About this image 
    KIR3DS1 Protein Expression
    REFSEQ proteins: NP_001077008.1  
    ENSEMBL proteins: 
     ENSP00000375611   ENSP00000383672   ENSP00000383645   ENSP00000383649   ENSP00000343498  
     ENSP00000383652   ENSP00000383651   ENSP00000383650   ENSP00000383646   ENSP00000383644  
    Reactome Protein details: Q14943
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    Uscn Proteins for KIR3DS1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ----
    GO:0005887integral to plasma membrane NAS8662091
    GO:0016021integral to membrane ----

    KIR3DS1 for ontologies           About GeneDecksing



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

    KIR3DS1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q14943

    ProtoNet protein and cluster: Q14943

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0004888transmembrane signaling receptor activity ----
    GO:0005515protein binding ----
    GO:0032393MHC class I receptor activity NAS8662091
         
    KIR3DS1 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    Immune System1.00
    Innate Immune System0.46
    2Signaling by FGFR
    DAP12 interactions0.76

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for KIR3DS1
        DAP12 interactions
    Immune System
    Innate Immune System



    KIR3DS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KIR3DS1

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

    5/10 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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS8662091
    GO:0006968cellular defense response ----
    GO:0007165signal transduction ----
    GO:0030101natural killer cell activation NAS8662091
    GO:0050776regulation of immune response ----

    KIR3DS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Search CenterWatch for drugs/clinical trials and news about KIR3DS1 / KI3S1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIR3DS1 gene: 
    NM_001083539.1  

    Unigene Cluster for KIR3DS1:

    Killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
    Hs.743496  [show with all ESTs]
    Unigene Representative Sequence: NM_001083539
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391731 ENST00000400875(uc010euy.2) ENST00000400847 ENST00000400851(uc002qtv.3 uc010evf.3)
    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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    Additional cDNA sequence: 

    AF022044.1 AJ417558.3 AK301140.1 BC098107.1 BC098288.1 BC105679.1 BC143616.1 BC143618.1 
    EF370406.1 EF582383.1 L76661.1 U73396.1 X97232.1 X97233.1 

    4 DOTS entries:

    DT.91758240  DT.455734  DT.121450388  DT.95344541 

    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

    KIR3DS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    KIR3DS1 Expression
    About this image
    See KIR3DS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIR3DS1

    SOURCE GeneReport for Unigene cluster: Hs.743496

    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KIR3DS1 gene from 2/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 59)
    --
    25(a)
    24(a)
    (see all 59)
    many ↔ many
    many ↔ many
    (see all 59)
    Un(51843257-51844123)
    Un(7502858-7503788)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --
    17(a)
    15(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    GL343329.1(1231914-1234163)
    GL343329.1(823590-844642)


    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)
    About This Section
    Paralogs for KIR3DS1 gene
    KIR2DL42  LILRB42  LILRB12  LILRA62  IGSF12  LILRA52  KIR3DL12  OSCAR2  
    NCR12  LILRA42  ENSG000002177922  TARM12  KIR3DX12  LILRA32  LILRB52  LILRA12  
    KIR3DL32  KIR2DL12  LILRB22  A1BG2  LILRA22  KIR3DL22  KIR2DL32  FCAR2  
    LILRB32  GP62  
    18/54 SIMAP similar genes for KIR3DS1 using alignment to 12 protein entries:     KI3S1_HUMAN (see all proteins) (see all similar genes):
    KIR-G1    KIR-123FM    KIR3DL1    KIR3DL1/2V    KIR411    KIR-K39
    KIR3DL2    KIR221    KIR-K36    kir3d    KIR2DS2    KIR-K15
    KIR-G2    KIR2DS1    KIR-K64    KIR2DS4    KIR2DL3    KIR-K65

    KIR3DS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    UniProtKB/Swiss-Prot: KI3S1_HUMAN, Q14943
    Polymorphism: 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


    Human Gene Mutation Database (HGMD): KIR3DS1

    Locus Specific Mutation Databases (LSDB): KIR3DS1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KIR3DS1 for disorders           About GeneDecksing

    OMIM gene information: 604946   
    OMIM disorders: 609423  
    20/45 diseases for KIR3DS1 (see all 45):    About MalaCards
    aids, delayed/rapid progression to    vogt-koyanagi-harada disease    birdshot chorioretinopathy    tropical spastic paraparesis
    microscopic polyangiitis    spastic paraparesis    familial mediterranean fever    systemic lupus erythematosus
    non-hodgkin lymphoma    type 1 diabetes mellitus    anterior uveitis    systemic lupus erythematosus, association with
    spontaneous abortion    lupus erythematosus    ankylosing spondylitis    hodgkin's lymphoma
    diabetes mellitus    spasticity    uveitis    spondylitis

    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)
    About This Section

    PubMed articles for KIR3DS1 gene, integrated from 9 sources (see all 119):
    (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 Dohring C....Colonna M. (1996)
    2. Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population. (PubMed id 15896204)1, 4 Jiang K....Yan L.X. (2005)
    3. Human diversity in killer cell inhibitory receptor genes. (PubMed id 9430221)1, 2 Uhrberg M.... Parham P. (1997)
    4. Killer-cell immunoglobulin-like receptors (KIR) in sev ere A (H1N1) 2009 influenza infections. (PubMed id 22652695)1 Aranda-Romo S....Noyola D.E. (2012)
    5. Association of killer cell immunoglobulin-like recepto rs with pulmonary tuberculosis in Chinese Han. (PubMed id 22653583)1 Lu C....Lu Z.M. (2012)
    6. Killer cell immunoglobulin-like receptor genes in Spa nish multiple sclerosis patients. (PubMed id 21665278)1 GarcA-a-LeA^n J.A....Leyva-FernA!ndez L. (2011)
    7. Autoimmune rheumatic diseases and their association w ith killer immunoglobulin-like receptor genes. (PubMed id 21779711)1 Salim P.H....Xavier R.M. (2011)
    8. Analysis of binding of KIR3DS1*014 to HLA suggests di stinct evolutionary history of KIR3DS1. (PubMed id 21804024)1 O'Connor G.M....McVicar D.W. (2011)
    9. Systemic lupus erythematosus: association with KIR an d SLC11A1 polymorphisms, ethnic predisposition and influence in clinical manife stations at onset revealed by ancestry genetic markers in an urban Brazilian po pulation. (PubMed id 21233146)1 Pedroza L.S....Santos E.J. (2011)
    10. The beneficial impact of missing KIR ligands and abse nce of donor KIR2DS3 gene on outcome following unrelated hematopoietic SCT for myeloid leukemia in the Chinese population. (PubMed id 20173784)1 Wu G.Q....Huang H. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3813 HGNC: 6340 Ensembl:ENSG00000215764 euGenes: HUgn3813 ECgene: KIR3DS1
    H-InvDB: KIR3DS1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for KIR3DS1 Pharmacogenomics, SNPs, Pathways

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    Patent Information for KIR3DS1 gene:
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