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KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 [ Homo sapiens (human) ]

Gene ID: 3813, updated on 11-Apr-2024

Summary

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Official Symbol
KIR3DS1provided by HGNC
Official Full Name
killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1provided by HGNC
Primary source
HGNC:HGNC:6340
See related
MIM:620778
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIR-G1; NKAT10; CD158E2; NKAT-10; KIR-123FM
Summary
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]
Annotation information
Annotation category: only annotated on alternate loci and patches unit in reference assembly
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Genomic context

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Location:
19q13.4
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_35) NT_113949.2 (58332..72919, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_10) NT_187636.1 (71689..86276, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_15) NT_187641.1 (77364..91952, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_18) NT_187644.1 (65403..79990, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_22) NT_187670.1 (65476..80063, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_27) NT_187675.1 (159475..174062)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_2) NW_003571055.2 (434330..448917)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107303.1 (223482..238182)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107304.1 (118091..132678)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107310.1 (148458..163045)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 (PATCHES) NW_003571055.1 (434329..448916)

NT_187636.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor 2DS3-like Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1

NT_187641.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1

NT_187644.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1

NW_003571055.2Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5

NT_187670.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1

NT_187675.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin-like receptor 2DS3-like

NT_113949.2Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1

NW_016107310.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene killer cell immunoglobulin-like receptor 2DL5B Neighboring gene killer cell immunoglobulin-like receptor 2DS3-like

NW_016107304.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin-like receptor 2DS5

NW_016107303.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1-like Neighboring gene killer cell immunoglobulin-like receptor 2DL4 Neighboring gene killer cell immunoglobulin-like receptor 2DL5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. KIR3DS1 directs NK cell-mediated protection against human adenovirus infections. Jung JM, et al. Sci Immunol, 2021 Sep 17. PMID 34533978
  2. A Variant of a Killer Cell Immunoglobulin-like Receptor Is Associated with Resistance to PD-1 Blockade in Lung Cancer. Trefny MP, et al. Clin Cancer Res, 2019 May 15. PMID 30765392
  3. HLA-F on HLA-Null 721.221 Cells Activates Primary NK Cells Expressing the Activating Killer Ig-like Receptor KIR3DS1. Kiani Z, et al. J Immunol, 2018 Jul 1. PMID 29743316
  4. Killer-cell immunoglobulin-like receptors associate with HIV-1 infection in a narrow-source Han Chinese cohort. Wang L, et al. PLoS One, 2018. PMID 29664957, Free PMC Article
  5. HIV exposed seronegative (HESN) compared to HIV infected individuals have higher frequencies of telomeric Killer Immunoglobulin-like Receptor (KIR) B motifs; Contribution of KIR B motif encoded genes to NK cell responsiveness. Jackson E, et al. PLoS One, 2017. PMID 28938026, Free PMC Article

See all (162) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Evaluation of KIR3DL1/KIR3DS1 allelic polymorphisms in Kenyan children with endemic Burkitt lymphoma.
    Title: Evaluation of KIR3DL1/KIR3DS1 allelic polymorphisms in Kenyan children with endemic Burkitt lymphoma.
  2. Expression profile of KIR3DS1/KIR3DL1 receptors in association with immunological responses in TB, HIV and HIV/TB infected patients.
    Title: Expression profile of KIR3DS1/KIR3DL1 receptors in association with immunological responses in TB, HIV and HIV/TB infected patients.
  3. Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1.
    Title: Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1.
  4. KIR3DS1 directs NK cell-mediated protection against human adenovirus infections.
    Title: KIR3DS1 directs NK cell-mediated protection against human adenovirus infections.
  5. Diversity of KIR/HLA Genotypes and Their Association with Psoriasis Vulgaris in the Western Mexican Population.
    Title: Diversity of KIR/HLA Genotypes and Their Association with Psoriasis Vulgaris in the Western Mexican Population.
  6. The KIR3DS1 allelic variant is associated with resistance to PD-1-targeted immunotherapy in patients with non-small cell lung cancer.
    Title: A Variant of a Killer Cell Immunoglobulin-like Receptor Is Associated with Resistance to PD-1 Blockade in Lung Cancer.
  7. The higher frequencies of KIR3DS1-Bw4 and homozygotic KIR2DS4- in patients compared with controls suggest they confer susceptibility to polycystic ovary syndrome. A lower frequency of KIR2DS4-full was observed in patients.
    Title: Killer-cell immunoglobulin-like receptors associated with polycystic ovary syndrome.
  8. Blocking the interaction of HLA-F on HLA-null cell line 721.221 with KIR3DS1-Fc chimeric protein or anti-HLA-F antibodies on exclusively gated KIR3DS1(+) cells reduced the frequency of functional cells compared with that of unblocked conditions for stimulated KIR3DS1(+) natural killer cells. Thus, ligation of KIR3DS1 activates primary natural killer cells for several antiviral functions.
    Title: HLA-F on HLA-Null 721.221 Cells Activates Primary NK Cells Expressing the Activating Killer Ig-like Receptor KIR3DS1.
  9. Data show that allelic diversity of killer cell immunoglobulin-like receptors KIR3DL1/S1 was similar in Mexican Mestizos from Mexico and in Hispanics from USA.
    Title: Allele diversity of the killer cell immunoglobulin-like receptors KIR3DL1/S1 and the combination with their HLA ligands in Mexican Mestizos from Mexico City.
  10. interactions between KIR3DS1 and HLA-F contribute to NK cell-mediated control of HCV.
    Title: Interactions Between KIR3DS1 and HLA-F Activate Natural Killer Cells to Control HCV Replication in Cell Culture.
Submit: New GeneRIF Correction See all GeneRIFs (61)

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Clone Names

  • MGC119726, MGC119728, MGC125316

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables MHC class I receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in immune response NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in immune response-regulating signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in natural killer cell activation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
killer cell immunoglobulin-like receptor 3DS1
Names
killer cell immunoglobulin-like receptor KIR3DS1
killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
natural killer-associated transcript 10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_005994.1 

    Range
    136930..151517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083539.3 → NP_001077008.1  killer cell immunoglobulin-like receptor 3DS1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001077008.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    KU645196
    UniProtKB/TrEMBL
    A0A1W2PRN0, B6CDM6, I6LEM2, I6LEM3, I6LFJ3, I6LFJ4, O43469
    Conserved Domains (3) summary
    cd00096
    Location:124 → 128
    Ig; Ig strand A [structural motif]
    cd05711
    Location:28 → 117
    IgC2_D2_LILR_KIR_like; Second immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors, Natural killer inhibitory receptors (KIRs) and similar domains; member of Immunoglobulin Constant-2 set of IgSF domains
    cl11960
    Location:123 → 217
    Ig; Immunoglobulin domain

  2. NM_001282170.1 → NP_001269099.1  killer cell immunoglobulin-like receptor 3DS1 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK301140, DC390157, L76661, X97232
    UniProtKB/TrEMBL
    A0A0G2JN05, Q99565
    Conserved Domains (2) summary
    cd05711
    Location:28 → 122
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
    cl11960
    Location:128 → 216
    Ig; Immunoglobulin domain

  3. NM_001282171.1 → NP_001269100.1  killer cell immunoglobulin-like receptor 3DS1 isoform 3

    See identical proteins and their annotated locations for NP_001269100.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two consecutive exons in the 5' coding regjon, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK301140, BC098107, DC390157, L76661
    UniProtKB/TrEMBL
    Q4KN23, Q99565
    Conserved Domains (2) summary
    cd05711
    Location:16 → 110
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
    cl11960
    Location:116 → 204
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107303.1 Reference GRCh38.p14 PATCHES

    Range
    223482..238182
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107304.1 Reference GRCh38.p14 PATCHES

    Range
    118091..132678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332043.1 → XP_054188018.1  killer cell immunoglobulin-like receptor 3DS1 isoform X2

    UniProtKB/TrEMBL
    A0A1W2PRN0, O43469

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107310.1 Reference GRCh38.p14 PATCHES

    Range
    148458..163045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332048.1 → XP_054188023.1  killer cell immunoglobulin-like receptor 3DS1 isoform X1

    UniProtKB/TrEMBL
    A0A1W2PRN0, O43469

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    434330..448917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330170.1 → XP_054186145.1  killer cell immunoglobulin-like receptor 3DS1 isoform X3

    UniProtKB/Swiss-Prot
    A0A0G2JNN4, Q14943, Q5UCD2

Reference GRCh38.p14 ALT_REF_LOCI_10

Genomic

  1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

    Range
    71689..86276 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333427.1 → XP_054189402.1  killer cell immunoglobulin-like receptor 3DS1 isoform X4

    UniProtKB/TrEMBL
    A0A1W2PRN0, O43469

Reference GRCh38.p14 ALT_REF_LOCI_15

Genomic

  1. NT_187641.1 Reference GRCh38.p14 ALT_REF_LOCI_15

    Range
    77364..91952 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333438.1 → XP_054189413.1  killer cell immunoglobulin-like receptor 3DS1 isoform X5

    UniProtKB/TrEMBL
    A0A1W2PRN0, O43469

Reference GRCh38.p14 ALT_REF_LOCI_18

Genomic

  1. NT_187644.1 Reference GRCh38.p14 ALT_REF_LOCI_18

    Range
    65403..79990 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333446.1 → XP_054189421.1  killer cell immunoglobulin-like receptor 3DS1 isoform X6

    UniProtKB/TrEMBL
    A0A1W2PRN0, O43469

Reference GRCh38.p14 ALT_REF_LOCI_22

Genomic

  1. NT_187670.1 Reference GRCh38.p14 ALT_REF_LOCI_22

    Range
    65476..80063 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333455.1 → XP_054189430.1  killer cell immunoglobulin-like receptor 3DS1 isoform X7

    UniProtKB/TrEMBL
    A0A1W2PRN0, O43469

Reference GRCh38.p14 ALT_REF_LOCI_27

Genomic

  1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

    Range
    159475..174062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333475.1 → XP_054189450.1  killer cell immunoglobulin-like receptor 3DS1 isoform X8

    UniProtKB/TrEMBL
    A0A1W2PRN0, O43469

Reference GRCh38.p14 ALT_REF_LOCI_35

Genomic

  1. NT_113949.2 Reference GRCh38.p14 ALT_REF_LOCI_35

    Range
    58332..72919 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333507.1 → XP_054189482.1  killer cell immunoglobulin-like receptor 3DS1 isoform X9

    UniProtKB/TrEMBL
    A0A1W2PRN0, O43469
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14943.2 GenPept UniProtKB/Swiss-Prot:Q14943

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