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KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 [ Homo sapiens (human) ]

Gene ID: 3811, updated on 29-Oct-2024

Summary

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Official Symbol
KIR3DL1provided by HGNC
Official Full Name
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1provided by HGNC
Primary source
HGNC:HGNC:6338
See related
Ensembl:ENSG00000167633 MIM:604946; AllianceGenome:HGNC:6338
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; NKB1; NKAT3; NKB1B; NKAT-3; CD158E1; KIR2DL5B; KIR3DL1/S1
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. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See KIR3DL1 in Genome Data Viewer
Location:
19q13.42
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54816468..54830778)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57880595..57925086)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55327923..55342233)

Chromosome 19 - NC_000019.10Genomic 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 short cytoplasmic tail 4 (gene/pseudogene) Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cytolytic activity of NK cell clones against acute childhood precursor-B-cell leukaemia is influenced by HLA class I expression on blasts and the differential KIR phenotype of NK clones. Feuchtinger T, et al. Bone Marrow Transplant, 2009 Jun. PMID 19151793
  2. KIR3DL1 alleles and their epistatic interactions with human leukocyte antigen class I influence resistance and susceptibility to HIV-1 acquisition in the Pumwani sex worker cohort. Luo M, et al. AIDS, 2018 Apr 24. PMID 29280757
  3. Amino-acid sequence motifs for PKC-mediated membrane trafficking of the inhibitory killer Ig-like receptor. Chwae YJ, et al. Immunol Cell Biol, 2008 May-Jun. PMID 18301382
  4. A large population-based association study between HLA and KIR genotypes and measles vaccine antibody responses. Ovsyannikova IG, et al. PLoS One, 2017. PMID 28158231, Free PMC Article
  5. Analysis of killer cell immunoglobulin-like receptors (KIRs) and their HLA ligand genes polymorphisms in Iranian patients with systemic sclerosis. Mahmoudi M, et al. Clin Rheumatol, 2017 Apr. PMID 28120169

See all (248) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Oncogenic alterations in KIR3DL1 in cutaneous acral CD8+ lymphoproliferative disorder.
    Title: Oncogenic alterations in KIR3DL1 in cutaneous acral CD8+ lymphoproliferative disorder.
  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. Large case-control study indicates no association of KIR genotype and risk of developing acute myeloid leukemia.
    Title: Large case-control study indicates no association of KIR genotype and risk of developing acute myeloid leukemia.
  4. 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.
  5. HLA-Bw4 in association with KIR3DL1 favors natural killer cell-mediated protection against severe COVID-19.
    Title: HLA-Bw4 in association with KIR3DL1 favors natural killer cell-mediated protection against severe COVID-19.
  6. Killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 1 gene *007 may modulate disease progression of human immunodeficiency virus-1 infection in the Japanese population.
    Title: Killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 1 gene *007 may modulate disease progression of human immunodeficiency virus-1 infection in the Japanese population.
  7. KIR Allelic Variation and the Remission of Atopic Dermatitis Over Time.
    Title: KIR Allelic Variation and the Remission of Atopic Dermatitis Over Time.
  8. KIR gene content imputation from single-nucleotide polymorphisms in the Finnish population.
    Title: KIR gene content imputation from single-nucleotide polymorphisms in the Finnish population.
  9. Immunogenomics of Killer Cell Immunoglobulin-Like Receptor (KIR) and HLA Class I: Coevolution and Consequences for Human Health.
    Title: Immunogenomics of Killer Cell Immunoglobulin-Like Receptor (KIR) and HLA Class I: Coevolution and Consequences for Human Health.
  10. Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1.
    Title: Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1.
Submit: New GeneRIF Correction See all GeneRIFs (146)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Susceptibility to HIV infection
MedGen: C1836230 OMIM: 609423 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env KIR3DL1+ NK cells can partially overcome inhibition to exhibit anti-HIV-1 Ab-dependent activation of NK cells, leading to suppress target cells presenting to HIV-1 gp120 PubMed

Go to the HIV-1, Human Interaction Database

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

Homology

Clone Names

  • MGC119726, MGC119728, MGC126589, MGC126591

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables HLA-B specific inhibitory MHC class I receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
NOT enables amyloid-beta binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables molecular adaptor activity EXP
Inferred from Experiment
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 mediated cytotoxicity IMP
Inferred from Mutant Phenotype
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 3DL1
Names
CD158 antigen-like family member E
HLA-BW4-specific inhibitory NK cell receptor
KIR antigen 3DL1
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
natural killer-associated transcript 3
p70 NK receptor CL-2/CL-11
p70 killer cell inhibitory receptor
p70 natural killer cell receptor clones CL-2/CL-11

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_021414.2 RefSeqGene

    Range
    5001..19341
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001322168.1 → NP_001309097.1  killer cell immunoglobulin-like receptor 3DL1 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents an alternate allele of the KIR3DL1 gene, as represented in ALT_REF_LOCI_30.
    Source sequence(s)
    AY366236, BC028206, U30274
    UniProtKB/TrEMBL
    A0A0C4ZLQ8, A0A172R164, A0A5J6VMJ0, C4N360, C4N361, C4N362, Q5UCE1, Q6H2G1, Q6H2G3, Q8NHK7
    Conserved Domains (3) summary
    cd00096
    Location:224 → 228
    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:223 → 311
    Ig; Immunoglobulin domain

  2. NM_013289.4 → NP_037421.2  killer cell immunoglobulin-like receptor 3DL1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_037421.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the reference genome allele of the KIR3DL1 gene.
    Source sequence(s)
    AC245128
    Consensus CDS
    CCDS42621.1
    UniProtKB/Swiss-Prot
    O43473, P43629, Q14946, Q16541
    UniProtKB/TrEMBL
    A0A0C4ZLV3, A0A1D0C0D6, E0X082, I6LEK9, I6LFK0, M4NBL3, Q5UCE2, Q6H2G2
    Related
    ENSP00000375608.4, ENST00000391728.8
    Conserved Domains (3) summary
    cd00096
    Location:224 → 228
    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:223 → 311
    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 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    54816468..54830778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107300.1 Reference GRCh38.p14 PATCHES

    Range
    118073..132434
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107301.1 Reference GRCh38.p14 PATCHES

    Range
    118081..132421
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107302.1 Reference GRCh38.p14 PATCHES

    Range
    118075..132416
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107305.1 Reference GRCh38.p14 PATCHES

    Range
    118064..132407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107306.1 Reference GRCh38.p14 PATCHES

    Range
    117888..132231
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107307.1 Reference GRCh38.p14 PATCHES

    Range
    118037..132378
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107309.1 Reference GRCh38.p14 PATCHES

    Range
    118075..132416
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107313.1 Reference GRCh38.p14 PATCHES

    Range
    118040..132383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107314.1 Reference GRCh38.p14 PATCHES

    Range
    104428..118768
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    753983..760403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017030274.1 → XP_016885763.1  killer cell immunoglobulin-like receptor 3DL1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    720804..735147
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

    Range
    799037..813347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_11

Genomic

  1. NT_187637.1 Reference GRCh38.p14 ALT_REF_LOCI_11

    Range
    38030..52341 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_12

Genomic

  1. NT_187638.1 Reference GRCh38.p14 ALT_REF_LOCI_12

    Range
    38231..52575 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_13

Genomic

  1. NT_187639.1 Reference GRCh38.p14 ALT_REF_LOCI_13

    Range
    38595..52938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_14

Genomic

  1. NT_187640.1 Reference GRCh38.p14 ALT_REF_LOCI_14

    Range
    27422..41766 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_16

Genomic

  1. NT_187642.1 Reference GRCh38.p14 ALT_REF_LOCI_16

    Range
    36724..51067 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_17

Genomic

  1. NT_187643.1 Reference GRCh38.p14 ALT_REF_LOCI_17

    Range
    38286..52629 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_19

Genomic

  1. NT_187645.1 Reference GRCh38.p14 ALT_REF_LOCI_19

    Range
    38301..52644 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_20

Genomic

  1. NT_187668.1 Reference GRCh38.p14 ALT_REF_LOCI_20

    Range
    28192..42503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_21

Genomic

  1. NT_187669.1 Reference GRCh38.p14 ALT_REF_LOCI_21

    Range
    38286..52629 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_23

Genomic

  1. NT_187671.1 Reference GRCh38.p14 ALT_REF_LOCI_23

    Range
    95381..109724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_24

Genomic

  1. NT_187672.1 Reference GRCh38.p14 ALT_REF_LOCI_24

    Range
    118101..122021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_25

Genomic

  1. NT_187673.1 Reference GRCh38.p14 ALT_REF_LOCI_25

    Range
    38300..52610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_26

Genomic

  1. NT_187674.1 Reference GRCh38.p14 ALT_REF_LOCI_26

    Range
    103310..117653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_28

Genomic

  1. NT_187676.1 Reference GRCh38.p14 ALT_REF_LOCI_28

    Range
    92381..106724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_29

Genomic

  1. NT_187677.1 Reference GRCh38.p14 ALT_REF_LOCI_29

    Range
    93834..108144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_30

Genomic

  1. NT_187683.1 Reference GRCh38.p14 ALT_REF_LOCI_30

    Range
    90646..104990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_31

Genomic

  1. NT_187684.1 Reference GRCh38.p14 ALT_REF_LOCI_31

    Range
    38088..52416 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_32

Genomic

  1. NT_187685.1 Reference GRCh38.p14 ALT_REF_LOCI_32

    Range
    37780..52121 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_33

Genomic

  1. NT_187686.1 Reference GRCh38.p14 ALT_REF_LOCI_33

    Range
    38631..52942 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_34

Genomic

  1. NT_187687.1 Reference GRCh38.p14 ALT_REF_LOCI_34

    Range
    38106..52436 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    57880595..57925086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P43629.1 GenPept UniProtKB/Swiss-Prot:P43629

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