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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 22-Dec-2018

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
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

Genomic context

See KIR2DS1 in Genome Data Viewer
Location:
19q13.4
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 (ALT_REF_LOCI_35) NT_113949.2 (13877..27891, complement)
109 current GRCh38.p12 (GCF_000001405.38) 19 (ALT_REF_LOCI_10) NT_187636.1 (27414..41428, complement)
109 current GRCh38.p12 (GCF_000001405.38) 19 (ALT_REF_LOCI_15) NT_187641.1 (33089..47103, complement)
109 current GRCh38.p12 (GCF_000001405.38) 19 (ALT_REF_LOCI_18) NT_187644.1 (20948..34962, complement)
109 current GRCh38.p12 (GCF_000001405.38) 19 (ALT_REF_LOCI_22) NT_187670.1 (21201..35215, complement)
109 current GRCh38.p12 (GCF_000001405.38) 19 (ALT_REF_LOCI_27) NT_187675.1 (204323..218337)
109 current GRCh38.p12 (GCF_000001405.38) 19 (ALT_REF_LOCI_2) NW_003571055.2 (479358..493372)
109 current GRCh38.p12 (GCF_000001405.38) 19 (ALT_REF_LOCI_4) NW_003571057.2 (841323..856417)
109 current GRCh38.p12 (GCF_000001405.38) 19 (PATCHES) NW_016107303.1 (268510..282524)
109 current GRCh38.p12 (GCF_000001405.38) 19 (PATCHES) NW_016107304.1 (163160..177174)
109 current GRCh38.p12 (GCF_000001405.38) 19 (PATCHES) NW_016107310.1 (193306..207320)
109 current GRCh38.p12 (GCF_000001405.38) 19 (PATCHES) NW_016107312.1 (63900..77914, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NT_113949.1 (115099..129113)

NT_187636.1Genomic 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 long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1

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 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 RNA, U6 small nuclear 222, pseudogene

NT_187670.1Genomic 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_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 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 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

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, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

NW_016107310.1Genomic 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, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2

NW_016107308.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 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 uncharacterized LOC101928804 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene RNA, U6 small nuclear 222, pseudogene

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, 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 RNA, U6 small nuclear 222, pseudogene

NW_016107303.1Genomic 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, 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
immune response NAS
Non-traceable Author Statement
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
 
regulation of immune response TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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
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)

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
    Q14954
    UniProtKB/TrEMBL
    K7QUS8
    Conserved Domains (1) summary
    cl11960
    Location:28122
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107303.1 Reference GRCh38.p12 PATCHES

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

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107304.1 Reference GRCh38.p12 PATCHES

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

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107310.1 Reference GRCh38.p12 PATCHES

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

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107312.1 Reference GRCh38.p12 PATCHES

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

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107308.1 Reference GRCh38.p12 PATCHES

    Range
    56558..85892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452625.1XP_024308393.1  

  2. XM_024452624.1XP_024308392.1  

  3. XM_011548371.2XP_011546673.1  

  4. XM_011548370.2XP_011546672.1  

    See identical proteins and their annotated locations for XP_011546672.1

    UniProtKB/TrEMBL
    B1N8M6
  5. XM_024452627.1XP_024308395.1  

  6. XM_024452626.1XP_024308394.1  

  7. XM_024452628.1XP_024308396.1  

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p12 ALT_REF_LOCI_2

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

Reference GRCh38.p12 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p12 ALT_REF_LOCI_4

    Range
    841323..856417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452542.1XP_024308310.1  killer cell immunoglobulin-like receptor 2DS1 isoform X2

    Conserved Domains (1) summary
    cl11960
    Location:28122
    Ig; Immunoglobulin domain
  2. XM_017030286.1XP_016885775.1  killer cell immunoglobulin-like receptor 2DS1 isoform X4

    Conserved Domains (1) summary
    cl11960
    Location:28122
    Ig; Immunoglobulin domain
  3. XM_011547998.2XP_011546300.1  killer cell immunoglobulin-like receptor 2DS1 isoform X1

    See identical proteins and their annotated locations for XP_011546300.1

    UniProtKB/TrEMBL
    B1N8M6
    Conserved Domains (1) summary
    cl11960
    Location:28122
    Ig; Immunoglobulin domain
  4. XM_024452544.1XP_024308312.1  killer cell immunoglobulin-like receptor 2DS1 isoform X3

    Conserved Domains (1) summary
    cl11960
    Location:75163
    Ig; Immunoglobulin domain
  5. XM_024452543.1XP_024308311.1  killer cell immunoglobulin-like receptor 2DS1 isoform X3

    Conserved Domains (1) summary
    cl11960
    Location:75163
    Ig; Immunoglobulin domain
  6. XM_024452545.1XP_024308313.1  killer cell immunoglobulin-like receptor 2DS1 isoform X3

    Conserved Domains (1) summary
    cl11960
    Location:75163
    Ig; Immunoglobulin domain

Reference GRCh38.p12 ALT_REF_LOCI_10

Genomic

  1. NT_187636.1 Reference GRCh38.p12 ALT_REF_LOCI_10

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

Reference GRCh38.p12 ALT_REF_LOCI_15

Genomic

  1. NT_187641.1 Reference GRCh38.p12 ALT_REF_LOCI_15

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

Reference GRCh38.p12 ALT_REF_LOCI_18

Genomic

  1. NT_187644.1 Reference GRCh38.p12 ALT_REF_LOCI_18

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

Reference GRCh38.p12 ALT_REF_LOCI_22

Genomic

  1. NT_187670.1 Reference GRCh38.p12 ALT_REF_LOCI_22

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

Reference GRCh38.p12 ALT_REF_LOCI_27

Genomic

  1. NT_187675.1 Reference GRCh38.p12 ALT_REF_LOCI_27

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

Reference GRCh38.p12 ALT_REF_LOCI_35

Genomic

  1. NT_113949.2 Reference GRCh38.p12 ALT_REF_LOCI_35

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