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Aliases for KIR3DS1 Gene

Aliases for KIR3DS1 Gene

  • Killer Cell Immunoglobulin Like Receptor, Three Ig Domains And Short Cytoplasmic Tail 1 2 3
  • Killer Cell Immunoglobulin-Like Receptor, Three Domains, Short Cytoplasmic Tail, 1 2 3
  • Natural Killer-Associated Transcript 10 3 4
  • NKAT-10 3 4
  • NKAT10 3 4
  • Killer Cell Immunoglobulin-Like Receptor KIR3DS1 3
  • Killer Cell Immunoglobulin-Like Receptor 3DS1 3
  • MHC Class I NK Cell Receptor 4
  • KIR-123FM 3
  • CD158E2 3
  • KIR-G1 3

External Ids for KIR3DS1 Gene

Previous GeneCards Identifiers for KIR3DS1 Gene

  • GC19U990059
  • GC19P060011
  • GC00P000070
  • GC19P000070
  • GC00U921579
  • GC19P060021
  • GC19P9I0071
  • GC19P9I0072
  • GC19P9I0073
  • GC19P9I0074
  • GC19P9I0010
  • GC19P9I0012
  • GC19P9I0014
  • GC19P9I0016
  • GC19P9I0018
  • GC19P9I0020
  • GC19P9I0030
  • GC19M8W0058

Summaries for KIR3DS1 Gene

Entrez Gene Summary for KIR3DS1 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

GeneCards Summary for KIR3DS1 Gene

KIR3DS1 (Killer Cell Immunoglobulin Like Receptor, Three Ig Domains And Short Cytoplasmic Tail 1) is a Protein Coding gene. Diseases associated with KIR3DS1 include Birdshot Chorioretinopathy. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Innate Immune System. Gene Ontology (GO) annotations related to this gene include MHC class I receptor activity.

UniProtKB/Swiss-Prot for KIR3DS1 Gene

  • Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.

Additional gene information for KIR3DS1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIR3DS1 Gene

Genomics for KIR3DS1 Gene

Genomic Locations for KIR3DS1 Gene

Genomic Locations for KIR3DS1 Gene
chr19:71,573-86,270
(GRCh38/hg38)
Size:
14,698 bases
Orientation:
Minus strand

Genomic View for KIR3DS1 Gene

Genes around KIR3DS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for KIR3DS1 Gene

No data available for GeneHancer (GH) Regulatory Elements for KIR3DS1 Gene

Proteins for KIR3DS1 Gene

  • Protein details for KIR3DS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14943-KI3S1_HUMAN
    Recommended name:
    Killer cell immunoglobulin-like receptor 3DS1
    Protein Accession:
    Q14943
    Secondary Accessions:
    • A0A0G2JNN4
    • Q5UCD2

    Protein attributes for KIR3DS1 Gene

    Size:
    382 amino acids
    Molecular mass:
    42475 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KIR3DS1 Gene

Post-translational modifications for KIR3DS1 Gene

  • Glycosylation at isoforms=273, isoforms=179, and isoforms=92
  • Modification sites at PhosphoSitePlus

Other Protein References for KIR3DS1 Gene

No data available for DME Specific Peptides for KIR3DS1 Gene

Domains & Families for KIR3DS1 Gene

Gene Families for KIR3DS1 Gene

Protein Domains for KIR3DS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14943

UniProtKB/Swiss-Prot:

KI3S1_HUMAN :
  • Belongs to the immunoglobulin superfamily.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIR3DS1: view

Function for KIR3DS1 Gene

Molecular function for KIR3DS1 Gene

UniProtKB/Swiss-Prot Function:
Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.
GENATLAS Biochemistry:
natural killer cell immunoglobulin-like activating receptor for HLA-B antigens,3DS1,70kDa,with alternatively spliced forms

Gene Ontology (GO) - Molecular Function for KIR3DS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25740999
GO:0032393 MHC class I receptor activity NAS 8662091
genes like me logo Genes that share ontologies with KIR3DS1: view
genes like me logo Genes that share phenotypes with KIR3DS1: view

Animal Model Products

Clone Products

  • R&D Systems cDNA Clones for KIR3DS1 (KIR3DS1/CD158e2)

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KIR3DS1 Gene

Localization for KIR3DS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR3DS1 Gene

Cell membrane; Single-pass type I membrane protein.

Gene Ontology (GO) - Cellular Components for KIR3DS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 8662091
genes like me logo Genes that share ontologies with KIR3DS1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for KIR3DS1 Gene

Pathways & Interactions for KIR3DS1 Gene

genes like me logo Genes that share pathways with KIR3DS1: view

Gene Ontology (GO) - Biological Process for KIR3DS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 8662091
GO:0007165 signal transduction IEA --
GO:0030101 natural killer cell activation NAS 8662091
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with KIR3DS1: view

No data available for SIGNOR curated interactions for KIR3DS1 Gene

Drugs & Compounds for KIR3DS1 Gene

No Compound Related Data Available

Transcripts for KIR3DS1 Gene

mRNA/cDNA for KIR3DS1 Gene

(3) REFSEQ mRNAs :
(14) Additional mRNA sequences :

Unigene Clusters for KIR3DS1 Gene

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

Clone Products

  • R&D Systems cDNA Clones for KIR3DS1 (KIR3DS1/CD158e2)

Alternative Splicing Database (ASD) splice patterns (SP) for KIR3DS1 Gene

No ASD Table

Relevant External Links for KIR3DS1 Gene

GeneLoc Exon Structure for
KIR3DS1
ECgene alternative splicing isoforms for
KIR3DS1

Expression for KIR3DS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIR3DS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KIR3DS1 Gene:

KIR3DS1

SOURCE GeneReport for Unigene cluster for KIR3DS1 Gene:

Hs.743496

mRNA Expression by UniProt/SwissProt for KIR3DS1 Gene:

Q14943-KI3S1_HUMAN
Tissue specificity: Expressed in NK and T-cell lines but not in B-lymphoblastoid cell lines or in a colon carcinoma cell line.
genes like me logo Genes that share expression patterns with KIR3DS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIR3DS1 Gene

Orthologs for KIR3DS1 Gene

No data available for Orthologs and Evolution for KIR3DS1 Gene

Paralogs for KIR3DS1 Gene

(55) SIMAP similar genes for KIR3DS1 Gene using alignment to 11 proteins:

  • KI3S1_HUMAN
  • B6CDM6_HUMAN
  • I6LEM2_HUMAN
  • I6LEM3_HUMAN
  • I6LFJ3_HUMAN
  • I6LFJ4_HUMAN
  • O43469_HUMAN
  • Q0VGG8_HUMAN
  • Q4KN23_HUMAN
  • Q5UCD2_HUMAN
  • Q8NHI8_HUMAN
genes like me logo Genes that share paralogs with KIR3DS1: view

No data available for Paralogs for KIR3DS1 Gene

Variants for KIR3DS1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KIR3DS1 Gene

KI3S1_HUMAN-Q14943
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.

Sequence variations from dbSNP and Humsavar for KIR3DS1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1049215 -- p.Gly259Arg
rs1142881 -- p.Leu13Phe
rs2273731 -- p.Pro203Ser
rs375468097 -- p.Arg166His
rs605219 -- p.Leu2Ser

Structural Variations from Database of Genomic Variants (DGV) for KIR3DS1 Gene

Variant ID Type Subtype PubMed ID
nsv428372 CNV gain+loss 18775914
nsv437834 CNV loss 16327808
nsv458810 CNV loss 19166990
nsv469656 CNV loss 16826518
nsv471417 CNV gain 19718026
nsv471706 CNV loss 15918152
nsv514902 CNV gain 21397061
nsv517143 CNV gain+loss 19592680
nsv580320 CNV loss 21841781
nsv580326 CNV gain+loss 21841781
nsv580329 CNV loss 21841781
nsv580336 CNV gain 21841781
nsv580338 CNV gain 21841781
nsv833879 CNV gain+loss 17160897
nsv953620 CNV deletion 24416366
nsv953621 CNV deletion 24416366
nsv953622 CNV duplication 24416366
nsv9761 CNV gain+loss 18304495
nsv9762 CNV gain 18304495
nsv9763 CNV loss 18304495
nsv9764 CNV gain 18304495
nsv9765 CNV gain 18304495
nsv978853 CNV duplication 23825009
nsv138073 CNV deletion 16902084
nsv1160669 CNV deletion 26073780
nsv1160668 CNV deletion 26073780
nsv1160665 CNV deletion 26073780
nsv1136289 CNV deletion 24896259
nsv1135854 CNV deletion 24896259
nsv1128785 CNV duplication 24896259
nsv1126532 CNV deletion 24896259
nsv1072365 CNV deletion 25765185
nsv1072364 CNV deletion 25765185
nsv1071948 CNV deletion 25765185
nsv1060113 CNV gain 25217958
esv7080 CNV loss 19470904
esv3893249 CNV loss 25118596
esv3644821 CNV loss 21293372
esv3644820 CNV loss 21293372
esv3644819 CNV gain 21293372
esv3644818 CNV loss 21293372
esv3583569 CNV loss 25503493
esv3583567 CNV loss 25503493
esv3583566 CNV loss 25503493
esv3583537 CNV loss 25503493
esv3574997 CNV gain 25503493
esv3556634 CNV deletion 23714750
esv3363871 CNV duplication 20981092
esv32828 CNV loss 17666407
esv32688 CNV loss 17666407
esv2758771 CNV gain+loss 17122850
esv2718932 CNV deletion 23290073
esv2718931 CNV deletion 23290073
esv2718930 CNV deletion 23290073
esv2718928 CNV deletion 23290073
esv2718872 CNV deletion 23290073
esv2668549 CNV deletion 23128226
esv2667609 CNV deletion 23128226
esv2665895 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
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

Additional Variant Information for KIR3DS1 Gene

Human Gene Mutation Database (HGMD)
KIR3DS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIR3DS1

No data available for Variation tolerance for KIR3DS1 Gene

Disorders for KIR3DS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIR3DS1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
birdshot chorioretinopathy
  • bscr
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIR3DS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KIR3DS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIR3DS1 Gene

Publications for KIR3DS1 Gene

  1. Alternatively spliced forms of human killer inhibitory receptors. (PMID: 8662091) Döhring C … Colonna M (Immunogenetics 1996) 2 3 4 58
  2. Recombinant structures expand and contract inter and intragenic diversification at the KIR locus. (PMID: 23394822) Pyo CW … Geraghty DE (BMC genomics 2013) 3 4 58
  3. Killer cell immunoglobulin-like receptor gene polymorphisms in patients with leukemia: possible association with susceptibility to the disease. (PMID: 19450876) Zhang Y … Qi J (Leukemia research 2010) 3 44 58
  4. No association of KIR3DL1 or KIR3DS1 or their alleles with ankylosing spondylitis. (PMID: 19874556) McCappin J … Middleton D (Tissue antigens 2010) 3 44 58
  5. Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection. (PMID: 19846535) Vidal-Castiñeira JR … López-Larrea C (Journal of virology 2010) 3 44 58

Products for KIR3DS1 Gene

Sources for KIR3DS1 Gene

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