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KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 [ Homo sapiens (human) ]

Gene ID: 3802, updated on 11-Apr-2024

Summary

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Official Symbol
KIR2DL1provided by HGNC
Official Full Name
killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1provided by HGNC
Primary source
HGNC:HGNC:6329
See related
Ensembl:ENSG00000125498 MIM:604936; AllianceGenome:HGNC:6329
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
NKAT; NKAT1; p58.1; CD158A; KIR221; NKAT-1; KIR-K64; KIR2DL3
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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Location:
19q13.42
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54769793..54784322)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57864064..57878595)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55281245..55295774)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:55275257-55276456 Neighboring gene uncharacterized LOC101928804 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

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
  • 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. High-Resolution Genetic and Phenotypic Analysis of KIR2DL1 Alleles and Their Association with Pre-Eclampsia. Huhn O, et al. J Immunol, 2018 Nov 1. PMID 30249807, Free PMC Article
  2. Different Selected Mechanisms Attenuated the Inhibitory Interaction of KIR2DL1 with C2(+) HLA-C in Two Indigenous Human Populations in Southern Africa. Nemat-Gorgani N, et al. J Immunol, 2018 Apr 15. PMID 29549179, Free PMC Article
  3. [Cloning and sequencing of KIR2DL1 framework gene cDNA and identification of a novel allele]. Sun G, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2016 Oct. PMID 27577226
  4. Functional advantage of educated KIR2DL1(+) natural killer cells for anti-HIV-1 antibody-dependent activation. Gooneratne SL, et al. Clin Exp Immunol, 2016 Apr. PMID 26647083, Free PMC Article
  5. Influence of Differently Licensed KIR2DL1-Positive Natural Killer Cells in Transplant Recipients with Acute Leukemia: A Japanese National Registry Study. Arima N, et al. Biol Blood Marrow Transplant, 2016 Mar. PMID 26456260

See all (166) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KIR2DS1 and KIR2DL1-C245 Dominantly Repress NK Cell Degranulation Triggered by Monoclonal or Bispecific Antibodies, whereas Education by Uptuning Inhibitory Killer Ig-related Receptors Exerts No Advantage in Ab-dependent Cellular Cytotoxicity.
    Title: KIR2DS1 and KIR2DL1-C245 Dominantly Repress NK Cell Degranulation Triggered by Monoclonal or Bispecific Antibodies, whereas Education by Uptuning Inhibitory Killer Ig-related Receptors Exerts No Advantage in Ab-dependent Cellular Cytotoxicity.
  2. The KIR2DL1 intermediate upstream element participates in gene activation.
    Title: The KIR2DL1 intermediate upstream element participates in gene activation.
  3. Uterine NK cells underexpress KIR2DL1/S1 and LILRB1 in reproductive failure.
    Title: Uterine NK cells underexpress KIR2DL1/S1 and LILRB1 in reproductive failure.
  4. Lack of association of KIR2DL1-R(245) and KIR2DL1-C(245) with HIV-1 control in black South Africans with HLA-C2.
    Title: Lack of association of KIR2DL1-R(245) and KIR2DL1-C(245) with HIV-1 control in black South Africans with HLA-C2.
  5. Single Nucleotide Polymorphism in KIR2DL1 Is Associated With HLA-C Expression in Global Populations.
    Title: Single Nucleotide Polymorphism in KIR2DL1 Is Associated With HLA-C Expression in Global Populations.
  6. The strong interaction of KIR2DL1 and HLA-C2 ligands seems to promote large and stable expansion of adaptive NK cells in Human Cytomegalovirus (HCMV) infection.
    Title: KIR Polymorphism Modulates the Size of the Adaptive NK Cell Pool in Human Cytomegalovirus-Infected Individuals.
  7. More NK cells educated through KIR2DL1 and KIR3DL1, but not KIR2DL3, responded to antibody-dependent (AD) NK cell activation than their uneducated counterparts.
    Title: Differential contribution of education through KIR2DL1, KIR2DL3, and KIR3DL1 to antibody-dependent (AD) NK cell activation and ADCC.
  8. matching of KIR2DL1, 2DS1, and 2DS2 in donors with their HLA-C ligands in recipients is associated with increased GvHD, and holds potential for selection of HSCT donors.
    Title: Prognostic role of KIR genes and HLA-C after hematopoietic stem cell transplantation in a patient cohort with acute myeloid leukemia from a consanguineous community.
  9. In a case-control study of pre-eclampsia, the authors show that KIR2DL1A, not KIR2DL1B, associates with increased Pre-Eclampsia disease risk.
    Title: High-Resolution Genetic and Phenotypic Analysis of KIR2DL1 Alleles and Their Association with Pre-Eclampsia.
  10. Distinguishing these haplotypes are independent mutations in KIR2DL1.
    Title: Different Selected Mechanisms Attenuated the Inhibitory Interaction of KIR2DL1 with C2(+) HLA-C in Two Indigenous Human Populations in Southern Africa.
Submit: New GeneRIF Correction See all GeneRIFs (62)

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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in immune response TAS
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 inhibitory signaling pathway IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
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 2DL1
Names
CD158 antigen-like family member A
KIR2DL protein
KIR2DL1/3DL2
MHC class I NK cell receptor
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
killer inhibitory receptor 2-2-1
natural killer-associated transcript 1
p58 NK cell inhibitory receptor NKR-K6
p58 NK receptor CL-42/47.11
p58 killer cell inhibitory receptor KIR-K64
p58 natural killer cell receptor clones CL-42/47.11
p58.1 MHC class-I-specific NK receptor

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
    90267..104787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

  2. NG_051369.1 RefSeqGene

    Range
    5586..20115
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014218.3 → NP_055033.2  killer cell immunoglobulin-like receptor 2DL1 precursor

    See identical proteins and their annotated locations for NP_055033.2

    Status: REVIEWED

    Source sequence(s)
    AC011501, AC245128, AY366237, AY366240
    Consensus CDS
    CCDS12904.1
    UniProtKB/Swiss-Prot
    O43470, P43626, Q32WE6, Q6H2H3, Q6IST4
    UniProtKB/TrEMBL
    A0A0C5BZP0, A0A0C5C369, A0A0G2JQ06, A0A0Y0R0P1, A0A0Y0RMI5, A0A5J6VPP5, A0A7D5CA51, A0A7U3JYS5, A0A7U3JYW3, E7BWR8, Q6H2H1
    Related
    ENSP00000336769.5, ENST00000336077.11
    Conserved Domains (3) summary
    cd00096
    Location:129 → 133
    Ig; Ig strand A [structural motif]
    cd05711
    Location:28 → 122
    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:128 → 216
    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 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    54769793..54784322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107300.1 Reference GRCh38.p14 PATCHES

    Range
    71426..85955
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107301.1 Reference GRCh38.p14 PATCHES

    Range
    71434..85962
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107302.1 Reference GRCh38.p14 PATCHES

    Range
    71403..85930
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107303.1 Reference GRCh38.p14 PATCHES

    Range
    71371..85919
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107304.1 Reference GRCh38.p14 PATCHES

    Range
    71403..85932
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107305.1 Reference GRCh38.p14 PATCHES

    Range
    71390..85917
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107306.1 Reference GRCh38.p14 PATCHES

    Range
    71206..85742
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107307.1 Reference GRCh38.p14 PATCHES

    Range
    71360..85890
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107309.1 Reference GRCh38.p14 PATCHES

    Range
    71400..85929
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    675454..689981
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    752629..785797
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    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331236.1 → XP_054187211.1  killer cell immunoglobulin-like receptor 2DL1 isoform X1

    UniProtKB/TrEMBL
    B1N8M6

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    674127..688656
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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
    752359..766888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_10

Genomic

  1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

    Range
    118422..132958 complement
    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
    84517..99046 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
    85086..99615 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
    73882..88419 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_15

Genomic

  1. NT_187641.1 Reference GRCh38.p14 ALT_REF_LOCI_15

    Range
    124103..138632 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
    84777..99306 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
    84793..99322 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
    74679..89204 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
    84777..99306 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
    48706..63234
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    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
    71371..85900
    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
    84756..99285 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
    56633..71160
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_27

Genomic

  1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

    Range
    112792..127328
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    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
    45707..60236
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    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
    43970..58498
    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
    86264..100798 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
    84269..98798 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
    85118..99654 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
    84581..99107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    57864064..57878595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P43626.2 GenPept UniProtKB/Swiss-Prot:P43626

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