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KIR3DL3 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 [ Homo sapiens (human) ]

Gene ID: 115653, updated on 11-Jun-2021

Summary

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Official Symbol
KIR3DL3provided by HGNC
Official Full Name
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3provided by HGNC
Primary source
HGNC:HGNC:16312
See related
Ensembl:ENSG00000242019 MIM:610095
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
KIR44; KIRC1; CD158Z; KIR3DL7
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. This gene is one of the "framework" loci that is present on all haplotypes. [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 KIR3DL3 in Genome Data Viewer
Location:
19q13.42
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (54724442..54736632)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55235952..55248003)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 1 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2 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

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. Seventeen novel alleles add to the already extensive KIR3DL3 diversity. Hou L, et al. Tissue Antigens, 2007 Dec. PMID 17900289
  2. Nature of allelic sequence polymorphism at the KIR3DL3 locus. Jones DC, et al. Immunogenetics, 2006 Aug. PMID 16823588
  3. KIR3DL3 allelic diversity: six new alleles exhibit both conservative and non-conservative substitutions. Steiner NK, et al. Tissue Antigens, 2006 Apr. PMID 16634863
  4. Molecular characterization of KIR3DL3. Trundley AE, et al. Immunogenetics, 2006 Jan. PMID 16391939
  5. Natural killer cell immunoglobulin-like receptor (KIR) locus profiles in African and South Asian populations. Norman PJ, et al. Genes Immun, 2002 Apr. PMID 11960306

See all (70) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Higher proportion of NK cells expressing inhibitory CD158b and CD158e receptors is associated with significant liver injury in children with chronic hepatitis C.
    Title: Expression of Natural Killer Cell Inhibitory Receptors is Associated with Significant Liver Injury in Chronic Hepatitis C in Children.
  2. Array CGH showed a 95 Kb de novo duplication on chromosome 19q13.4 encompassing four killer cell immunoglobulin-like receptor (KIR) genes.
    Title: Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome.
  3. The frequencies of alleles of killer cell immunoglobulin-like receptor genes, KIR3DL3 and KIR3DL2, and the carrier frequency of KIR2DL4 alleles have been determined from a population of African Americans by DNA sequencing of the coding regions.
    Title: The characteristics of allelic polymorphism in killer-immunoglobulin-like receptor framework genes in African Americans.
  4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection.
  5. Seventeen novel alleles have been added to the already extensive KIR3DL3 diversity.
    Title: Seventeen novel alleles add to the already extensive KIR3DL3 diversity.
  6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Role of killer cell immunoglobulin-like receptor gene content and human leukocyte antigen-C group in susceptibility to human T-lymphotropic virus 1-associated myelopathy/tropical spastic paraparesis in Peru.
  7. Observational study of genotype prevalence. (HuGE Navigator)
    Title: Diversity of killer cell immunoglobulin-like receptor genes in Indonesian populations of Sumatra, Sulawesi and Moluccas Islands.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection.
  9. an inhibitory element was identified in the KIR2DL4 promoter and an activating element was found in the KIR3DL3 promoter; AML-2 acts as a repressor of expression of both KIR2DL4 and KIR3DL3 in mature NK cells
    Title: Three structurally and functionally divergent kinds of promoters regulate expression of clonally distributed killer cell Ig-like receptors (KIR), of KIR2DL4, and of KIR3DL3.
  10. Allelic sequence polymorphism at the KIR3DL3 is associated with pre-Eclampsia
    Title: Nature of allelic sequence polymorphism at the KIR3DL3 locus.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

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

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 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
killer cell immunoglobulin-like receptor 3DL3
Names
CD158 antigen-like family member Z
KIR3DL3 Killer-cell Immunoglobulin-like Receptor
KIR3DL33DL3*novel_CDS_genomic_submission_1
killer cell Ig-like receptor KIR3DL7
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3
killer cell inhibitory receptor 1
killer-cell immunoglobulin-like receptor 3DL3
truncated killer cell immunoglobulin-like receptor 3DL3

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
    469..12519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

  2. NG_050568.1 RefSeqGene

    Range
    5001..17090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_153443.5 → NP_703144.3  killer cell immunoglobulin-like receptor 3DL3 precursor

    See identical proteins and their annotated locations for NP_703144.3

    Status: REVIEWED

    Source sequence(s)
    AC245128, AJ938052, AJ938056, BC136283
    Consensus CDS
    CCDS12903.1
    UniProtKB/TrEMBL
    A0A0B4J1R5
    Related
    ENSP00000291860.1, ENST00000291860.1
    Conserved Domains (3) summary
    cd05711
    Location:123 → 217
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
    smart00410
    Location:35 → 95
    IG_like; Immunoglobulin like
    cl11960
    Location:28 → 117
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    54724442..54736632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107300.1 Reference GRCh38.p13 PATCHES

    Range
    26066..38262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107301.1 Reference GRCh38.p13 PATCHES

    Range
    26066..38253
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107302.1 Reference GRCh38.p13 PATCHES

    Range
    26075..38226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107303.1 Reference GRCh38.p13 PATCHES

    Range
    26066..38222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107304.1 Reference GRCh38.p13 PATCHES

    Range
    26066..38255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107305.1 Reference GRCh38.p13 PATCHES

    Range
    26072..38219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107306.1 Reference GRCh38.p13 PATCHES

    Range
    26066..38242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107307.1 Reference GRCh38.p13 PATCHES

    Range
    26072..38220
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107308.1 Reference GRCh38.p13 PATCHES

    Range
    26072..38219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107309.1 Reference GRCh38.p13 PATCHES

    Range
    26066..38255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107311.1 Reference GRCh38.p13 PATCHES

    Range
    26072..38245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107312.1 Reference GRCh38.p13 PATCHES

    Range
    140917..153094 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107313.1 Reference GRCh38.p13 PATCHES

    Range
    26066..38252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107314.1 Reference GRCh38.p13 PATCHES

    Range
    26072..38244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    630130..642277
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    813227..825377
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    707320..719470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    628836..640984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p13 ALT_REF_LOCI_8

    Range
    450508..462680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p13 ALT_REF_LOCI_9

    Range
    707061..719213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_10

Genomic

  1. NT_187636.1 Reference GRCh38.p13 ALT_REF_LOCI_10

    Range
    210570..222742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_11

Genomic

  1. NT_187637.1 Reference GRCh38.p13 ALT_REF_LOCI_11

    Range
    132186..144334 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_12

Genomic

  1. NT_187638.1 Reference GRCh38.p13 ALT_REF_LOCI_12

    Range
    118766..130981 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_13

Genomic

  1. NT_187639.1 Reference GRCh38.p13 ALT_REF_LOCI_13

    Range
    132768..144957 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_14

Genomic

  1. NT_187640.1 Reference GRCh38.p13 ALT_REF_LOCI_14

    Range
    165997..178168 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_15

Genomic

  1. NT_187641.1 Reference GRCh38.p13 ALT_REF_LOCI_15

    Range
    171770..183963 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_16

Genomic

  1. NT_187642.1 Reference GRCh38.p13 ALT_REF_LOCI_16

    Range
    117287..129468 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_17

Genomic

  1. NT_187643.1 Reference GRCh38.p13 ALT_REF_LOCI_17

    Range
    132445..144633 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_18

Genomic

  1. NT_187644.1 Reference GRCh38.p13 ALT_REF_LOCI_18

    Range
    146205..158420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_19

Genomic

  1. NT_187645.1 Reference GRCh38.p13 ALT_REF_LOCI_19

    Range
    132461..144609 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_20

Genomic

  1. NT_187668.1 Reference GRCh38.p13 ALT_REF_LOCI_20

    Range
    166950..179126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_21

Genomic

  1. NT_187669.1 Reference GRCh38.p13 ALT_REF_LOCI_21

    Range
    132439..144596 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_22

Genomic

  1. NT_187670.1 Reference GRCh38.p13 ALT_REF_LOCI_22

    Range
    146293..158445 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_23

Genomic

  1. NT_187671.1 Reference GRCh38.p13 ALT_REF_LOCI_23

    Range
    3408..15556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_24

Genomic

  1. NT_187672.1 Reference GRCh38.p13 ALT_REF_LOCI_24

    Range
    26072..38220
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_25

Genomic

  1. NT_187673.1 Reference GRCh38.p13 ALT_REF_LOCI_25

    Range
    132446..144636 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_26

Genomic

  1. NT_187674.1 Reference GRCh38.p13 ALT_REF_LOCI_26

    Range
    11290..23437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_27

Genomic

  1. NT_187675.1 Reference GRCh38.p13 ALT_REF_LOCI_27

    Range
    23005..35177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_28

Genomic

  1. NT_187676.1 Reference GRCh38.p13 ALT_REF_LOCI_28

    Range
    421..12569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_29

Genomic

  1. NT_187677.1 Reference GRCh38.p13 ALT_REF_LOCI_29

    Range
    15438..27620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_30

Genomic

  1. NT_187683.1 Reference GRCh38.p13 ALT_REF_LOCI_30

    Range
    230..10809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_31

Genomic

  1. NT_187684.1 Reference GRCh38.p13 ALT_REF_LOCI_31

    Range
    162496..174708 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_32

Genomic

  1. NT_187685.1 Reference GRCh38.p13 ALT_REF_LOCI_32

    Range
    131931..144083 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_33

Genomic

  1. NT_187686.1 Reference GRCh38.p13 ALT_REF_LOCI_33

    Range
    177446..189666 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_34

Genomic

  1. NT_187687.1 Reference GRCh38.p13 ALT_REF_LOCI_34

    Range
    132277..144472 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_35

Genomic

  1. NT_113949.2 Reference GRCh38.p13 ALT_REF_LOCI_35

    Range
    139138..151310 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N743.2 GenPept UniProtKB/Swiss-Prot:Q8N743

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