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KIR3DP1 Gene

pseudogene   GIFtS: 29
GCID: GC19P055297

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

  See KIR3DP1-related disease
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, Pseudogene
11 2
     CD158C3 5
KIR2DS62 3 5     CD158c2
KIR482 3 5     KIR3DS2P2
KIRX2 3 5     CD158c Antigen3

External Ids:    HGNC: 163431   Entrez Gene: 5485942   Ensembl: ENSG000002642577   OMIM: 6106045   UniProtKB: A8MWS13   

Export aliases for KIR3DP1 gene to outside databases

Previous GC identifers: GC19P059992 GC19U900570 GC19P059976 GC19P059977 GC19P059978 GC19P059979 GC19P059993 GC19P059982 GC19P059994 GC19P051620


(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 KIR3DP1 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. This gene is one of the 'framework' loci that is present on all haplotypes. This gene is
considered to be a pseudogene based on the absence of transcription and it lacks several functional domains
compared to other killer cell immunoglobulin-like receptors. A rare haplotype, the result of a recombinantion
event, has two copies of this gene, one of which may encode a secreted protein. (PMID: 15580659)(provided by
RefSeq, Mar 2011)

GeneCards Summary for KIR3DP1 Gene:
KIR3DP1 (killer cell immunoglobulin-like receptor, three domains, pseudogene 1) is a pseudogene. Diseases associated with KIR3DP1 include hematopoietic stem cell transplantation.




(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 KIR3DP1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIR3DP1 promoter sequence
   Search Chromatin IP Primers for KIR3DP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIR3DP1


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

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

KIR3DP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIR3DP1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P055297:  view genomic region     (about GC identifiers)

Start:
55,297,807 bp from pter      End:
55,301,870 bp from pter
Size:
4,064 bases      Orientation:
plus strand

1 alternative location:
Chr19+,NW_003571060 690,696-694,752     

(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: KI3P1_HUMAN, A8MWS1 (See protein sequence)
Recommended Name: Putative killer cell immunoglobulin-like receptor like protein KIR3DP1 precursor  
Size: 328 amino acids; 36055 Da
Miscellaneous: PubMed:15580659, identified a chromosomal rearrangement producing a recombinant gene composed of
the promoter and first exon of KIR2DL5A fused to KIR3DP1 which was originally thought to be a pseudogene. This
leads to the expression in 4.5 percent of a Spanish Caucasoid population of an mRNA which may encode a chimeric
protein KIR2DL5A/KIR3DP1

Explore the universe of human proteins at neXtProt for KIR3DP1: NX_A8MWS1

Post-translational modifications: 

  • Glycosylation2 at Asn162

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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

    4 InterPro protein domains:
     IPR003598 Ig_sub2
     IPR003599 Ig_sub
     IPR013783 Ig-like_fold
     IPR013151 Immunoglobulin

    Graphical View of Domain Structure for InterPro Entry A8MWS1

    ProtoNet protein and cluster: A8MWS1

    UniProtKB/Swiss-Prot: KI3P1_HUMAN, A8MWS1
    Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with KIR3DP1           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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    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
    KI3P1_HUMAN, A8MWS1: Secreted (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    Find genes that share ontologies with KIR3DP1           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIR3DP1
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    (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 Tocris compounds for KIR3DP1 (KI3P1)



    (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 KIR3DP1 gene: 
    NM_001015070.1  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000580853
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    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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    KIR3DP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCTGAGGC
    KIR3DP1 Expression
    About this image

    KIR3DP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    UniProtKB/Swiss-Prot: KI3P1_HUMAN, A8MWS1
    Tissue specificity: Expressed in peripheral blood cells

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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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      --

    ENSEMBL Gene Tree for KIR3DP1 (if available)
    TreeFam Gene Tree for KIR3DP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIR3DP1 gene
    Selected SIMAP similar genes for KIR3DP1 using alignment to 1 protein entry:     KI3P1_HUMAN(see all similar genes):
    p58    KIR222    KIR-K36    KIR-K9    KIR2DL1    KIR2DL2
    KIR-G1    KIR-G2    KIR-K15    KIR-K3    KIR-K64    KIR2DL3
    KIR2DP1DL1    KIR2DS2S3    KIR412    NKAT2a-delta-Ig2    KIR-K65    KIR2DS1

    Find genes that share paralogs with KIR3DP1           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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    2 SNPs for KIR3DP1    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs5970681,2,4
    ----see VAR_0594272 mis40--------
    rs176990881,2,4
    ----see VAR_0594262 mis40--------

    HapMap Linkage Disequilibrium report for KIR3DP1 (55297807 - 55301870 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KIR3DP1: --
    Locus Specific Mutation Databases (LSDB): KIR3DP1

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing KIR3DP1
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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.)
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    OMIM gene information: 610604    OMIM disorders: --

    1 disease for KIR3DP1:    
    About MalaCards
    hematopoietic stem cell transplantation


    Find genes that share disorders with KIR3DP1           About GenesLikeMe

    Genetic Association Database (GAD): KIR3DP1
    Human Genome Epidemiology (HuGE) Navigator: KIR3DP1 (39 documents)

    Export disorders for KIR3DP1 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 KIR3DP1 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with KIR3DP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The silent KIR3DP1 gene (CD158c) is transcribed and might encode a secreted receptor in a minority of humans, in whom the KIR3DP1, KIR2DL4 and KIR3DL1/KIR3DS1 genes are duplicated. (PubMed id 15580659)1, 2, 3, 9 Gomez-Lozano N.... Vilches C. (Eur. J. Immunol. 2005)
    2. Diversity of killer cell immunoglobulin-like receptor genes in Indonesian populations of Java, Kalimantan, Timor and Irian Jaya. (PubMed id 19000141)1, 4, 9 Velickovic M....Dunckley H. (Tissue Antigens 2009)
    3. Immunogenetic characteristics of patients with autoimmune gastritis. (PubMed id 20082482)1, 4 Oksanen A.M....Partanen J.A. (World J. Gastroenterol. 2010)
    4. 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)
    5. 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)
    6. Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection. (PubMed id 20878400)1, 4 Wauquier N....Vieillard V. (Immunogenetics 2010)
    7. Killer cell immunoglobulin-like receptor gene-cluster 3DS1-2DL5-2DS1-2DS5 predisposes susceptibility to Vogt-Koyanagi-Harada syndrome in Japanese individuals. (PubMed id 19897003)1, 4 Levinson R.D....Rajalingam R. (Hum. Immunol. 2010)
    8. Activating killer cell immunoglobulin-like receptors 3DS1 and 2DS1 protect against developing the severe form of recurrent respiratory papillomatosis. (PubMed id 19861144)1, 4 Bonagura V.R....Rajalingam R. (Hum. Immunol. 2010)
    9. Activating killer cell immunoglobulin-like receptor genes' association with recurrent miscarriage. (PubMed id 19527230)1, 4 Vargas R.G....da GraAsa Bicalho M. (Am. J. Reprod. Immunol. 2009)
    10. 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 Ludajic K....Greinix H.T. (Bone Marrow Transplant. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 548594 HGNC: 16343 Ensembl:ENSG00000264257 euGenes: HUgn548594 ECgene: KIR3DP1
    H-InvDB: KIR3DP1

    (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 KIR3DP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIR3DP1 gene:
    Search GeneIP for patents involving KIR3DP1

    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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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