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Aliases for KIR3DL1 Gene

Aliases for KIR3DL1 Gene

  • Killer Cell Immunoglobulin Like Receptor, Three Ig Domains And Long Cytoplasmic Tail 1 2 3 5
  • Killer Cell Immunoglobulin-Like Receptor, Three Domains, Long Cytoplasmic Tail, 1 2 3
  • P70 Natural Killer Cell Receptor Clones CL-2/CL-11 3 4
  • HLA-BW4-Specific Inhibitory NK Cell Receptor 3 4
  • Natural Killer-Associated Transcript 3 3 4
  • CD158 Antigen-Like Family Member E 3 4
  • P70 NK Receptor CL-2/CL-11 3 4
  • NKAT-3 3 4
  • NKAT3 3 4
  • NKB1 3 4
  • Killer Cell Immunoglobulin-Like Receptor 3DL1 3
  • P70 Killer Cell Inhibitory Receptor 3
  • MHC Class I NK Cell Receptor 4
  • KIR Antigen 3DL1 3
  • CD158e Antigen 4
  • KIR3DL1/S1 3
  • CD158E1 3
  • CD158E 4
  • NKB1B 3
  • KIR 3

External Ids for KIR3DL1 Gene

Previous HGNC Symbols for KIR3DL1 Gene

  • KIR

Previous GeneCards Identifiers for KIR3DL1 Gene

  • GC19P056190
  • GC19P055662
  • GC19P060003
  • GC19P060009
  • GC19P060019
  • GC19P059929
  • GC19P055327
  • GC19P051650
  • GC19P055253
  • GC19P055257
  • GC19P055262
  • GC19P055268
  • GC19P055274
  • GC19P055278
  • GC19P054879
  • GC19P054911
  • GC19P054922
  • GC19P054934

Summaries for KIR3DL1 Gene

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 Ig Domains And Long Cytoplasmic Tail 1) is a Protein Coding gene. Diseases associated with KIR3DL1 include Hiv-1 and Hematopoietic Stem Cell Transplantation. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Immune System. GO annotations related to this gene include HLA-B specific inhibitory MHC class I receptor activity. An important paralog of this gene is KIR3DL2.

UniProtKB/Swiss-Prot for KIR3DL1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIR3DL1 Gene

Genomics for KIR3DL1 Gene

Regulatory Elements for KIR3DL1 Gene

Enhancers for KIR3DL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F054695 0.9 Ensembl 12.1 -119.5 -119538 2.2 ELF3 ARID4B ZBTB40 ZSCAN9 ZNF48 GATA2 ETV6 ZBTB11 NR2F2 CREB3 KIR3DL3 KIR2DL3 KIR2DL4 KIR3DL1 KIR3DX1 GP6 LILRP1 ENSG00000228790
GH19F054792 0.8 Ensembl 11.3 -23.4 -23438 1.2 IRF2 ATF1 HINFP SUZ12 CREB3L1 DEAF1 ZNF644 ZNF766 ZNF143 ZMIZ1 CDC42EP5 KIR2DL3 KIR3DL1 KIR3DL3 NLRP2 NLRP7 ENSG00000243494 KIR3DX1 EPS8L1 RDH13
GH19F055626 1 Ensembl ENCODE 4.9 +810.0 810004 0.9 SOX13 SAP130 CEBPG ZSCAN9 EED CREM THAP11 GATAD2A SOX5 NFIA FIZ1 ZNF524 ZNF628 TMEM86B KIR3DL1 ZNF784 GC19P055633
GH19F055275 1.1 FANTOM5 Ensembl ENCODE 1.4 +460.4 460379 2.2 MTA2 NFYB SIN3A CEBPB ZNF623 SPI1 HSPBP1 KIR3DL2 KIR2DS4 ZNF628 NCR1 EPN1 PPP6R1 KMT5C KIR3DL1 GC19M055263
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIR3DL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIR3DL1 Gene

Chromosome:
19
Start:
54,816,438 bp from pter
End:
54,866,993 bp from pter
Size:
50,556 bases
Orientation:
Plus strand

Genomic View for KIR3DL1 Gene

Genes around KIR3DL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIR3DL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIR3DL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for KIR3DL1 Gene

  • Protein details for KIR3DL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43629-KI3L1_HUMAN
    Recommended name:
    Killer cell immunoglobulin-like receptor 3DL1
    Protein Accession:
    P43629
    Secondary Accessions:
    • O43473
    • Q14946
    • Q16541

    Protein attributes for KIR3DL1 Gene

    Size:
    444 amino acids
    Molecular mass:
    49098 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KIR3DL1 Gene

    Alternative splice isoforms for KIR3DL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIR3DL1 Gene

Post-translational modifications for KIR3DL1 Gene

  • Glycosylation at Asn 92, Asn 179, and Asn 273
  • Modification sites at PhosphoSitePlus

Other Protein References for KIR3DL1 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for KIR3DL1

No data available for DME Specific Peptides for KIR3DL1 Gene

Domains & Families for KIR3DL1 Gene

Protein Domains for KIR3DL1 Gene

Suggested Antigen Peptide Sequences for KIR3DL1 Gene

Graphical View of Domain Structure for InterPro Entry

P43629

UniProtKB/Swiss-Prot:

KI3L1_HUMAN :
  • Ig-like C2-type domain 2 mediates specificity through recognition of the Bw4 epitope.
  • Belongs to the immunoglobulin superfamily.
Domain:
  • Ig-like C2-type domain 2 mediates specificity through recognition of the Bw4 epitope.
  • Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIR3DL1: view

Function for KIR3DL1 Gene

Molecular function for KIR3DL1 Gene

GENATLAS Biochemistry:
natural killer cell immunoglobulin-like inhibitory receptor for HLA-B antigens,3DL1,70kDa,with several alternatively spliced (truncated) forms
UniProtKB/Swiss-Prot Function:
Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis.

Gene Ontology (GO) - Molecular Function for KIR3DL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030109 HLA-B specific inhibitory MHC class I receptor activity NAS 7650366
genes like me logo Genes that share ontologies with KIR3DL1: view
genes like me logo Genes that share phenotypes with KIR3DL1: view

Animal Model Products

miRNA for KIR3DL1 Gene

miRTarBase miRNAs that target KIR3DL1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIR3DL1 Gene

Localization for KIR3DL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR3DL1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIR3DL1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
extracellular 1
peroxisome 1
cytosol 1
endosome 1

Gene Ontology (GO) - Cellular Components for KIR3DL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 7716543
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIR3DL1: view

Pathways & Interactions for KIR3DL1 Gene

genes like me logo Genes that share pathways with KIR3DL1: view

Interacting Proteins for KIR3DL1 Gene

SIGNOR curated interactions for KIR3DL1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KIR3DL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 7716543
GO:0007165 signal transduction IEA --
GO:0042267 natural killer cell mediated cytotoxicity IMP 18502829
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with KIR3DL1: view

Drugs & Compounds for KIR3DL1 Gene

(10) Drugs for KIR3DL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for KIR3DL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KIR3DL1: view

Transcripts for KIR3DL1 Gene

Unigene Clusters for KIR3DL1 Gene

Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIR3DL1 Gene

No ASD Table

Relevant External Links for KIR3DL1 Gene

GeneLoc Exon Structure for
KIR3DL1
ECgene alternative splicing isoforms for
KIR3DL1

Expression for KIR3DL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIR3DL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIR3DL1 Gene

This gene is overexpressed in Whole Blood (x44.0).

NURSA nuclear receptor signaling pathways regulating expression of KIR3DL1 Gene:

KIR3DL1

SOURCE GeneReport for Unigene cluster for KIR3DL1 Gene:

Hs.645228
genes like me logo Genes that share expression patterns with KIR3DL1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for KIR3DL1 Gene

Orthologs for KIR3DL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIR3DL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIR3DL1 34
  • 95.7 (n)
mouse
(Mus musculus)
Mammalia Kir3dl1 35
  • 42 (a)
ManyToMany
Kir3dl2 35
  • 42 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 31 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 31 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 28 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 21 (a)
ManyToMany
-- 35
  • 15 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 17 (a)
OneToMany
Species where no ortholog for KIR3DL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KIR3DL1 Gene

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

Paralogs for KIR3DL1 Gene

genes like me logo Genes that share paralogs with KIR3DL1: view

Variants for KIR3DL1 Gene

Sequence variations from dbSNP and Humsavar for KIR3DL1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1049150 --
rs1049215 --
rs1051454 -- 54,806,001(+) TTCGC(A/G)CAGGA intron-variant, reference, missense
rs10664307 -- 54,816,811(+) GAGAT(-/ATGG)ATGGG intron-variant
rs111273306 -- 54,796,964(+) ATCCC(A/G)AATAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIR3DL1 Gene

Variant ID Type Subtype PubMed ID
dgv1818n106 CNV deletion 24896259
dgv149n111 CNV deletion 26073780
dgv145e55 CNV loss 17911159
dgv144e55 CNV gain 17911159
dgv1086e212 CNV loss 25503493
dgv1085e212 CNV loss 25503493
dgv1084e212 CNV loss 25503493
dgv1083e212 CNV loss 25503493
dgv1082e212 CNV loss 25503493
dgv1081e212 CNV loss 25503493
dgv1080e212 CNV loss 25503493
dgv1078e212 CNV gain 25503493
nsv978853 CNV duplication 23825009
nsv9762 CNV gain 18304495
nsv9761 CNV gain+loss 18304495
nsv833879 CNV gain+loss 17160897
nsv580336 CNV gain 21841781
nsv580329 CNV loss 21841781
nsv580326 CNV gain+loss 21841781
nsv580320 CNV loss 21841781
nsv517143 CNV gain+loss 19592680
nsv514902 CNV gain 21397061
nsv471706 CNV loss 15918152
nsv469656 CNV loss 16826518
nsv458810 CNV loss 19166990
nsv437834 CNV loss 16327808
nsv428372 CNV gain+loss 18775914
nsv1160669 CNV deletion 26073780
nsv1160668 CNV deletion 26073780
nsv1160665 CNV deletion 26073780
nsv1072364 CNV deletion 25765185
nsv1071948 CNV deletion 25765185
nsv1060113 CNV gain 25217958
esv7080 CNV loss 19470904
esv3893249 CNV loss 25118596
esv3644819 CNV gain 21293372
esv3644818 CNV loss 21293372
esv3583567 CNV loss 25503493
esv3583566 CNV loss 25503493
esv3583537 CNV loss 25503493
esv3574997 CNV gain 25503493
esv32828 CNV loss 17666407
esv2758771 CNV gain+loss 17122850
esv2718931 CNV deletion 23290073
esv2718930 CNV deletion 23290073
esv2718928 CNV deletion 23290073
esv2718872 CNV deletion 23290073
esv2667609 CNV deletion 23128226
esv26630 CNV gain+loss 19812545
esv2661467 CNV deletion 23128226
esv2477686 CNV loss 19546169
esv2421952 CNV deletion 20811451
dgv76e203 CNV gain+loss 21179565
dgv672e214 CNV loss 21293372
dgv668e199 CNV deletion 23128226
dgv667e199 CNV deletion 23128226
dgv6581n54 CNV gain+loss 21841781
dgv6580n54 CNV gain 21841781
dgv6579n54 CNV loss 21841781
dgv6564n54 CNV gain 21841781
dgv536e201 CNV deletion 23290073
dgv534e201 CNV deletion 23290073
dgv438n27 CNV gain 19166990
dgv3678n100 CNV loss 25217958
dgv3677n100 CNV loss 25217958
dgv3676n100 CNV loss 25217958
dgv3675n100 CNV gain+loss 25217958
dgv3674n100 CNV gain+loss 25217958
dgv3673n100 CNV loss 25217958
dgv3672n100 CNV gain+loss 25217958
dgv3671n100 CNV gain+loss 25217958
dgv3670n100 CNV loss 25217958
dgv3669n100 CNV gain 25217958
dgv3668n100 CNV loss 25217958
dgv3667n100 CNV gain 25217958
dgv3666n100 CNV gain 25217958

Variation tolerance for KIR3DL1 Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.95; 87.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIR3DL1 Gene

Human Gene Mutation Database (HGMD)
KIR3DL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIR3DL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIR3DL1 Gene

Disorders for KIR3DL1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KIR3DL1 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hiv-1
  • aids, slow progression to
hematopoietic stem cell transplantation
graft-versus-host disease, protection against
  • graft-versus-host disease, susceptibility to
birdshot chorioretinopathy
  • birdshot chorioretinitis
microscopic polyangiitis
  • mpa
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIR3DL1

Genetic Association Database (GAD)
KIR3DL1
Human Genome Epidemiology (HuGE) Navigator
KIR3DL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIR3DL1
genes like me logo Genes that share disorders with KIR3DL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIR3DL1 Gene

Publications for KIR3DL1 Gene

  1. [Analysis of natural killer cell immunoglobulin-like receptor genes in Chinese]. (PMID: 19218127) Fu S.J. … Deng W.F. (Nan Fang Yi Ke Da Xue Xue Bao 2009) 3 22 46 64
  2. KIR and HLA genotypes are associated with disease progression and survival following autologous hematopoietic stem cell transplantation for high-risk neuroblastoma. (PMID: 19934297) Venstrom J.M. … Hsu K.C. (Clin. Cancer Res. 2009) 3 22 46 64
  3. Analysis of killer immunoglobulin-like receptor genes in ankylosing spondylitis. (PMID: 19019897) Harvey D. … Wordsworth B.P. (Ann. Rheum. Dis. 2009) 3 22 46 64
  4. KIR genes and KIR ligands affect occurrence of acute GVHD after unrelated, 12/12 HLA matched, hematopoietic stem cell transplantation. (PMID: 19169284) Ludajic K. … Greinix H.T. (Bone Marrow Transplant. 2009) 3 22 46 64
  5. KIR3DL1/S1 genotypes and KIR2DS4 allelic variants in the AB KIR genotypes are associated with Plasmodium-positive individuals in malaria infection. (PMID: 19859704) Taniguchi M. … Kawabata M. (Immunogenetics 2009) 3 22 46 64

Products for KIR3DL1 Gene

Sources for KIR3DL1 Gene

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