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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 9-Apr-2017
    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; Vega:OTTHUMG00000065933
    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; 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]
    Orthologs
    Location:
    19q13.42
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (54816438..54830778)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55327893..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 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC119726, MGC119728, MGC126589, MGC126591

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    HLA-B specific inhibitory MHC class I receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    natural killer cell mediated cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    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

    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_021414.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001322168.1NP_001309097.1  killer cell immunoglobulin-like receptor 3DL1 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/Swiss-Prot
      P43629
      UniProtKB/TrEMBL
      Q6H2G3, Q8N6C9
      Conserved Domains (3) summary
      cd05711
      Location:123217
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      smart00410
      Location:3598
      IG_like; Immunoglobulin like
      cl11960
      Location:223311
      Ig; Immunoglobulin domain
    2. NM_013289.2NP_037421.2  killer cell immunoglobulin-like receptor 3DL1 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)
      BC028206, U30274
      Consensus CDS
      CCDS42621.1
      UniProtKB/Swiss-Prot
      P43629
      UniProtKB/TrEMBL
      Q5UCE2, Q8N6C9
      Related
      ENSP00000375608.4, OTTHUMP00000068687, ENST00000391728.8, OTTHUMT00000141238
      Conserved Domains (3) summary
      cd05711
      Location:123217
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      smart00410
      Location:3598
      IG_like; Immunoglobulin like
      cl11960
      Location:223311
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      54816438..54830778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_3

    Genomic

    1. NW_003571056.2 Reference GRCh38.p7 ALT_REF_LOCI_3

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

    mRNA and Protein(s)

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

    Reference GRCh38.p7 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p7 ALT_REF_LOCI_7

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

    Reference GRCh38.p7 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p7 ALT_REF_LOCI_9

      Range
      799007..813347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_11

    Genomic

    1. NT_187637.1 Reference GRCh38.p7 ALT_REF_LOCI_11

      Range
      38030..52371 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_12

    Genomic

    1. NT_187638.1 Reference GRCh38.p7 ALT_REF_LOCI_12

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

    Reference GRCh38.p7 ALT_REF_LOCI_13

    Genomic

    1. NT_187639.1 Reference GRCh38.p7 ALT_REF_LOCI_13

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

    Reference GRCh38.p7 ALT_REF_LOCI_14

    Genomic

    1. NT_187640.1 Reference GRCh38.p7 ALT_REF_LOCI_14

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

    Reference GRCh38.p7 ALT_REF_LOCI_16

    Genomic

    1. NT_187642.1 Reference GRCh38.p7 ALT_REF_LOCI_16

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

    Reference GRCh38.p7 ALT_REF_LOCI_17

    Genomic

    1. NT_187643.1 Reference GRCh38.p7 ALT_REF_LOCI_17

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

    Reference GRCh38.p7 ALT_REF_LOCI_19

    Genomic

    1. NT_187645.1 Reference GRCh38.p7 ALT_REF_LOCI_19

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

    Reference GRCh38.p7 ALT_REF_LOCI_20

    Genomic

    1. NT_187668.1 Reference GRCh38.p7 ALT_REF_LOCI_20

      Range
      28192..42533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_21

    Genomic

    1. NT_187669.1 Reference GRCh38.p7 ALT_REF_LOCI_21

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

    Reference GRCh38.p7 ALT_REF_LOCI_23

    Genomic

    1. NT_187671.1 Reference GRCh38.p7 ALT_REF_LOCI_23

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

    Reference GRCh38.p7 ALT_REF_LOCI_24

    Genomic

    1. NT_187672.1 Reference GRCh38.p7 ALT_REF_LOCI_24

      Range
      118071..122021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_25

    Genomic

    1. NT_187673.1 Reference GRCh38.p7 ALT_REF_LOCI_25

      Range
      38300..52640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_26

    Genomic

    1. NT_187674.1 Reference GRCh38.p7 ALT_REF_LOCI_26

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

    Reference GRCh38.p7 ALT_REF_LOCI_28

    Genomic

    1. NT_187676.1 Reference GRCh38.p7 ALT_REF_LOCI_28

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

    Reference GRCh38.p7 ALT_REF_LOCI_29

    Genomic

    1. NT_187677.1 Reference GRCh38.p7 ALT_REF_LOCI_29

      Range
      93804..108144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_30

    Genomic

    1. NT_187683.1 Reference GRCh38.p7 ALT_REF_LOCI_30

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

    Reference GRCh38.p7 ALT_REF_LOCI_31

    Genomic

    1. NT_187684.1 Reference GRCh38.p7 ALT_REF_LOCI_31

      Range
      38088..52446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_32

    Genomic

    1. NT_187685.1 Reference GRCh38.p7 ALT_REF_LOCI_32

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

    Reference GRCh38.p7 ALT_REF_LOCI_33

    Genomic

    1. NT_187686.1 Reference GRCh38.p7 ALT_REF_LOCI_33

      Range
      38631..52972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_34

    Genomic

    1. NT_187687.1 Reference GRCh38.p7 ALT_REF_LOCI_34

      Range
      38106..52466 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      55291312..55335798
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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