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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 10-Dec-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; AllianceGenome:HGNC:6340
    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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    See KIR3DS1 in Genome Data Viewer
    Location:
    19q13.4
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_35) NT_113949.2 (58332..72919, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_10) NT_187636.1 (71689..86276, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_15) NT_187641.1 (77364..91952, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_18) NT_187644.1 (65403..79990, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_22) NT_187670.1 (65476..80063, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_27) NT_187675.1 (159475..174062)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_2) NW_003571055.2 (434330..448917)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107303.1 (223482..238182)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107304.1 (118091..132678)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107310.1 (148458..163045)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 (PATCHES) NW_003571055.1 (434329..449029)

    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. Donor activating KIR3DS1 is associated with decreased acute GVHD in unrelated allogeneic hematopoietic stem cell transplantation. Venstrom JM, et al. Blood, 2010 Apr 15. PMID 20124216, Free PMC Article
    2. A novel full-length KIR3DS1*0130106 allele identified by sequencing. Wang L, et al. Tissue Antigens, 2014 May. PMID 24601832
    3. The KIR3DS1*0130105 allele identified using high-resolution sequence-based typing. Yindom LM, et al. Tissue Antigens, 2014 Apr. PMID 24499056
    4. Identification of the KIR3DL1*0050105 allele by sequence-based techniques. Wang L, et al. Tissue Antigens, 2014 Apr. PMID 24405495
    5. Peptide-Dependent Recognition of HLA-B*57:01 by KIR3DS1. O'Connor GM, et al. J Virol, 2015 May. PMID 25740999, Free PMC Article

    See all (164) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Activating KIR/HLA-I combinations as a risk factor of adult B-ALL.
      Title: Activating KIR/HLA-I combinations as a risk factor of adult B-ALL.
    2. 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.
    3. 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.
    4. Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1.
      Title: Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1.
    5. KIR3DS1 directs NK cell-mediated protection against human adenovirus infections.
      Title: KIR3DS1 directs NK cell-mediated protection against human adenovirus infections.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (62)

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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_2024_08

    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, B6CDM6, I6LEM2, I6LEM3, I6LFJ3, I6LFJ4, 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, B6CDM6, I6LEM2, I6LEM3, I6LFJ3, I6LFJ4, 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
      UniProtKB/TrEMBL
      B6CDM6, I6LEM2, I6LEM3, I6LFJ3, I6LFJ4

    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, B6CDM6, I6LEM2, I6LEM3, I6LFJ3, I6LFJ4, 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, B6CDM6, I6LEM2, I6LEM3, I6LFJ3, I6LFJ4, 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, B6CDM6, I6LEM2, I6LEM3, I6LFJ3, I6LFJ4, 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, B6CDM6, I6LEM2, I6LEM3, I6LFJ3, I6LFJ4, 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, B6CDM6, I6LEM2, I6LEM3, I6LFJ3, I6LFJ4, 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, B6CDM6, I6LEM2, I6LEM3, I6LFJ3, I6LFJ4, 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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