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

    Gene ID: 3802, updated on 5-Jul-2015
    Official Symbol
    KIR2DL1provided by HGNC
    Official Full Name
    killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1provided by HGNC
    Primary source
    HGNC:HGNC:6329
    See related
    Ensembl:ENSG00000125498; HPRD:12000; MIM:604936; Vega:OTTHUMG00000065885
    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
    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]
    See KIR2DL1 in Epigenomics, MapViewer
    Location:
    19q13.4
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (54769805..54784326)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55281265..55295778)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 Neighboring gene killer cell immunoglobulin-like receptor, two domains, pseudogene 1 Neighboring gene uncharacterized LOC101928804 Neighboring gene uncharacterized LOC102724300 Neighboring gene killer cell immunoglobulin-like receptor, three domains, pseudogene 1 Neighboring gene killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    natural killer cell inhibitory signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    killer cell immunoglobulin-like receptor 2DL1
    Names
    CD158 antigen-like family member A
    MHC class I NK cell receptor
    killer Ig receptor
    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

    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)

    mRNA and Protein(s)

    1. NM_014218.2NP_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, AY366237, AY366240
      Consensus CDS
      CCDS12904.1
      UniProtKB/Swiss-Prot
      P43626
      UniProtKB/TrEMBL
      Q6H2H2
      UniProtKB/TrEMBL
      Q6H2H3
      Related
      ENSP00000336769, OTTHUMP00000068618, ENST00000336077, OTTHUMT00000141148
      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

      Range
      54769805..54784326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526939.1XP_011525241.1  

      See identical proteins and their annotated locations for XP_011525241.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p2 ALT_REF_LOCI_1

      Range
      675474..689985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p2 ALT_REF_LOCI_2

      Range
      369241..402184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p2 ALT_REF_LOCI_7

      Range
      674139..688660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011548561.1XP_011546863.1  

      See identical proteins and their annotated locations for XP_011546863.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p2 ALT_REF_LOCI_9

      Range
      752371..766892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011548706.1XP_011547008.1  

      See identical proteins and their annotated locations for XP_011547008.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_10

    Genomic

    1. NT_187636.1 Reference GRCh38.p2 ALT_REF_LOCI_10

      Range
      118418..132946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547137.1XP_011545439.1  

      See identical proteins and their annotated locations for XP_011545439.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_11

    Genomic

    1. NT_187637.1 Reference GRCh38.p2 ALT_REF_LOCI_11

      Range
      84513..99034
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547143.1XP_011545445.1  

      See identical proteins and their annotated locations for XP_011545445.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_13

    Genomic

    1. NT_187639.1 Reference GRCh38.p2 ALT_REF_LOCI_13

      Range
      85082..99603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547146.1XP_011545448.1  

      See identical proteins and their annotated locations for XP_011545448.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_14

    Genomic

    1. NT_187640.1 Reference GRCh38.p2 ALT_REF_LOCI_14

      Range
      73878..88399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_15

    Genomic

    1. NT_187641.1 Reference GRCh38.p2 ALT_REF_LOCI_15

      Range
      124099..138620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547148.1XP_011545450.1  

      See identical proteins and their annotated locations for XP_011545450.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_17

    Genomic

    1. NT_187643.1 Reference GRCh38.p2 ALT_REF_LOCI_17

      Range
      84773..99294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547155.1XP_011545457.1  

      See identical proteins and their annotated locations for XP_011545457.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_19

    Genomic

    1. NT_187645.1 Reference GRCh38.p2 ALT_REF_LOCI_19

      Range
      84789..99310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547163.1XP_011545465.1  

      See identical proteins and their annotated locations for XP_011545465.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_20

    Genomic

    1. NT_187668.1 Reference GRCh38.p2 ALT_REF_LOCI_20

      Range
      74675..89192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547543.1XP_011545845.1  

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_21

    Genomic

    1. NT_187669.1 Reference GRCh38.p2 ALT_REF_LOCI_21

      Range
      84773..99294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547545.1XP_011545847.1  

      See identical proteins and their annotated locations for XP_011545847.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_23

    Genomic

    1. NT_187671.1 Reference GRCh38.p2 ALT_REF_LOCI_23

      Range
      48718..63238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547556.1XP_011545858.1  

      See identical proteins and their annotated locations for XP_011545858.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_24

    Genomic

    1. NT_187672.1 Reference GRCh38.p2 ALT_REF_LOCI_24

      Range
      71391..85904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_25

    Genomic

    1. NT_187673.1 Reference GRCh38.p2 ALT_REF_LOCI_25

      Range
      84752..99273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547559.1XP_011545861.1  

      See identical proteins and their annotated locations for XP_011545861.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_26

    Genomic

    1. NT_187674.1 Reference GRCh38.p2 ALT_REF_LOCI_26

      Range
      56653..71164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_27

    Genomic

    1. NT_187675.1 Reference GRCh38.p2 ALT_REF_LOCI_27

      Range
      112804..127332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547568.1XP_011545870.1  

      See identical proteins and their annotated locations for XP_011545870.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_28

    Genomic

    1. NT_187676.1 Reference GRCh38.p2 ALT_REF_LOCI_28

      Range
      45719..60240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547575.1XP_011545877.1  

      See identical proteins and their annotated locations for XP_011545877.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_30

    Genomic

    1. NT_187683.1 Reference GRCh38.p2 ALT_REF_LOCI_30

      Range
      43990..58502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_31

    Genomic

    1. NT_187684.1 Reference GRCh38.p2 ALT_REF_LOCI_31

      Range
      86260..100786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547806.1XP_011546108.1  

      See identical proteins and their annotated locations for XP_011546108.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_32

    Genomic

    1. NT_187685.1 Reference GRCh38.p2 ALT_REF_LOCI_32

      Range
      84265..98786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547809.1XP_011546111.1  

      See identical proteins and their annotated locations for XP_011546111.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_33

    Genomic

    1. NT_187686.1 Reference GRCh38.p2 ALT_REF_LOCI_33

      Range
      85114..99642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547810.1XP_011546112.1  

      See identical proteins and their annotated locations for XP_011546112.1

      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain

    Reference GRCh38.p2 ALT_REF_LOCI_34

    Genomic

    1. NT_187687.1 Reference GRCh38.p2 ALT_REF_LOCI_34

      Range
      84577..99087
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      55274832..55289346
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)