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

Gene ID: 3802, updated on 11-Jun-2021

Summary

Official Symbol
KIR2DL1provided by HGNC
Official Full Name
killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1provided by HGNC
Primary source
HGNC:HGNC:6329
See related
Ensembl:ENSG00000125498 MIM:604936
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; KIR2DL3
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See KIR2DL1 in Genome Data Viewer
Location:
19q13.42
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (54769208..54784326)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55281245..55295774)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes 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 pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in natural killer cell inhibitory signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of immune response TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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 2DL1
Names
CD158 antigen-like family member A
KIR2DL protein
KIR2DL1/3DL2
MHC class I NK cell receptor
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
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

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
    90267..104787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_051369.1 RefSeqGene

    Range
    5586..20115
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014218.3NP_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, AC245128, AY366237, AY366240
    Consensus CDS
    CCDS12904.1
    UniProtKB/Swiss-Prot
    P43626
    UniProtKB/TrEMBL
    Q6H2H2, Q6H2H3
    Related
    ENSP00000336769.5, ENST00000336077.11
    Conserved Domains (3) summary
    cd00096
    Location:129133
    Ig; Ig strand A [structural motif]
    cd05711
    Location:28122
    IgC2_D2_LILR_KIR_like; Second immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors, Natural killer inhibitory receptors (KIRs) and similar domains; member of Immunoglobulin Constant-2 set of IgSF domains
    cl11960
    Location:128216
    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
    54769208..54784326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026783.1XP_016882272.1  killer cell immunoglobulin-like receptor 2DL1 isoform X1

    Conserved Domains (1) summary
    cl11960
    Location:28122
    Ig; Immunoglobulin domain
  2. XM_011526939.2XP_011525241.1  killer cell immunoglobulin-like receptor 2DL1 isoform X2

    See identical proteins and their annotated locations for XP_011525241.1

    Conserved Domains (1) summary
    cl11960
    Location:28122
    Ig; Immunoglobulin domain
  3. XM_017026782.1XP_016882271.1  killer cell immunoglobulin-like receptor 2DL1 isoform X3

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107300.1 Reference GRCh38.p13 PATCHES

    Range
    71426..85955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107301.1 Reference GRCh38.p13 PATCHES

    Range
    71434..85962
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107302.1 Reference GRCh38.p13 PATCHES

    Range
    71403..85930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107303.1 Reference GRCh38.p13 PATCHES

    Range
    71371..85919
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107304.1 Reference GRCh38.p13 PATCHES

    Range
    71403..85932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107305.1 Reference GRCh38.p13 PATCHES

    Range
    71390..85917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107306.1 Reference GRCh38.p13 PATCHES

    Range
    71206..85742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107307.1 Reference GRCh38.p13 PATCHES

    Range
    71360..85890
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107309.1 Reference GRCh38.p13 PATCHES

    Range
    71400..85929
    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
    675454..689981
    Download
    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
    752629..785797
    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
    674127..688656
    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
    752359..766888
    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
    118422..132958 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
    84517..99046 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
    85086..99615 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
    73882..88419 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
    124103..138632 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
    84777..99306 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
    84793..99322 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
    74679..89204 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
    84777..99306 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
    48706..63234
    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
    71371..85900
    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
    84756..99285 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
    56633..71160
    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
    112792..127328
    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
    45707..60236
    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
    43970..58498
    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
    86264..100798 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
    84269..98798 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
    85118..99654 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
    84581..99107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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