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    KIR2DS1 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 [ Homo sapiens (human) ]

    Gene ID: 3806, updated on 27-Nov-2024

    Summary

    Official Symbol
    KIR2DS1provided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1provided by HGNC
    Primary source
    HGNC:HGNC:6333
    See related
    MIM:604952; AllianceGenome:HGNC:6333
    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
    p50.1; CD158H; CD158a
    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]
    Annotation information
    Annotation category: only annotated on alternate loci and patches unit in reference assembly
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    Genomic context

    See KIR2DS1 in Genome Data Viewer
    Location:
    19q13.4
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_35) NT_113949.2 (13877..27891, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_10) NT_187636.1 (27414..41428, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_15) NT_187641.1 (33089..47103, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_18) NT_187644.1 (20948..34962, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_22) NT_187670.1 (21201..35215, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_27) NT_187675.1 (204323..218337)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_2) NW_003571055.2 (479358..493372)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_4) NW_003571057.2 (841691..855965)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107303.1 (268510..282524)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107304.1 (163160..177174)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107310.1 (193306..207320)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107312.1 (63900..77914, complement)

    NT_187636.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin-like receptor 2DS3-like Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

    NT_187641.1Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 222, pseudogene Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

    NT_187644.1Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 222, pseudogene Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

    NW_003571055.2Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene MPRA-validated peak3560 silencer Neighboring gene Fc alpha receptor

    NT_187670.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

    NT_187675.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin-like receptor 2DS3-like Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene RNA, U6 small nuclear 222, pseudogene

    NT_113949.2Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

    NW_003571057.2Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:55246834-55248033 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:55275257-55276456 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene uncharacterized LOC101928804 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene natural cytotoxicity triggering receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55431695-55432196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55432197-55432696 Neighboring gene NLR family pyrin domain containing 7

    NW_016107312.1Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 222, pseudogene Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin-like receptor 2DS5 Neighboring gene killer cell immunoglobulin-like receptor 2DL5A

    NW_016107310.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor 2DL5B Neighboring gene killer cell immunoglobulin-like receptor 2DS3-like Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2

    NW_016107304.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin-like receptor 2DS5 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene RNA, U6 small nuclear 222, pseudogene

    NW_016107303.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor 2DL5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane signaling receptor activity NAS
    Non-traceable Author Statement
    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
     
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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

    Preferred Names
    killer cell immunoglobulin-like receptor 2DS1
    Names
    CD158 antigen-like family member H
    KIR2DS1 Killer-cell Immunoglobulin-like Receptor
    MHC class I NK cell receptor Eb6 ActI
    killer cell immunoglobulin-like receptor KIRDS1
    killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
    killer-cell immunoglobulin-like receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      181957..195971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014512.1NP_055327.1  killer cell immunoglobulin-like receptor 2DS1 precursor

      See identical proteins and their annotated locations for NP_055327.1

      Status: REVIEWED

      Source sequence(s)
      AF022046
      UniProtKB/Swiss-Prot
      K7QUS8, O43471, Q14954
      UniProtKB/TrEMBL
      A0A191URI9, A0A1B5BA07, A0A1W2PQZ7, A0A7D4Y6C7, B1N8M7, Q30189
      Conserved Domains (2) summary
      cd00096
      Location:2933
      Ig; Ig strand A [structural motif]
      cl11960
      Location:28122
      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 PATCHES

    Genomic

    1. NW_016107303.1 Reference GRCh38.p14 PATCHES

      Range
      268510..282524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107304.1 Reference GRCh38.p14 PATCHES

      Range
      163160..177174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107310.1 Reference GRCh38.p14 PATCHES

      Range
      193306..207320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107312.1 Reference GRCh38.p14 PATCHES

      Range
      63900..77914 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      479358..493372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      841691..855965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011547998.3XP_011546300.1  killer cell immunoglobulin-like receptor 2DS1 isoform X1

      See identical proteins and their annotated locations for XP_011546300.1

      UniProtKB/TrEMBL
      B1N8M6, B1N8M7, Q30189
      Conserved Domains (1) summary
      cl11960
      Location:28122
      Ig; Immunoglobulin domain

    Reference GRCh38.p14 ALT_REF_LOCI_10

    Genomic

    1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

      Range
      27414..41428 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
      33089..47103 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_18

    Genomic

    1. NT_187644.1 Reference GRCh38.p14 ALT_REF_LOCI_18

      Range
      20948..34962 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_22

    Genomic

    1. NT_187670.1 Reference GRCh38.p14 ALT_REF_LOCI_22

      Range
      21201..35215 complement
      Download
      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
      204323..218337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_35

    Genomic

    1. NT_113949.2 Reference GRCh38.p14 ALT_REF_LOCI_35

      Range
      13877..27891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)