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KLRG1 killer cell lectin like receptor G1 [ Homo sapiens (human) ]

Gene ID: 10219, updated on 3-Apr-2024

Summary

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Official Symbol
KLRG1provided by HGNC
Official Full Name
killer cell lectin like receptor G1provided by HGNC
Primary source
HGNC:HGNC:6380
See related
Ensembl:ENSG00000139187 MIM:604874; AllianceGenome:HGNC:6380
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
2F1; MAFA; MAFA-L; CLEC15A; MAFA-2F1; MAFA-LIKE
Summary
Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]
Expression
Broad expression in lymph node (RPKM 2.3), spleen (RPKM 2.1) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
12p13.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8950044..9215570)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8932277..9198833)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (9102640..9163347)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene A2ML1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8980966-8981708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8984681-8985424 Neighboring gene alpha-2-macroglobulin like 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:9057572-9058228 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:9060851-9061506 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:9064238-9064790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4220 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:9102411-9103315 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:9101505-9102410 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:9108425-9109624 Neighboring gene polyhomeotic homolog 1 Neighboring gene mannose-6-phosphate receptor, cation dependent Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4222 Neighboring gene VDAC2 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 612 Neighboring gene A2M antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5939 Neighboring gene alpha-2-macroglobulin Neighboring gene keratin 17 pseudogene 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:9322697-9323208 Neighboring gene BTG anti-proliferation factor 1 pseudogene 1 Neighboring gene TPT1 pseudogene 12 Neighboring gene PZP alpha-2-macroglobulin like Neighboring gene microRNA 1244-3 Neighboring gene prothymosin alpha pseudogene 4 Neighboring gene alpha-2-macroglobulin pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. KLRG1 is reduced on NK cells in SLE patients, inversely correlates with disease activity and is modulated by hydroxychloroquine in vitro. Novelli L, et al. Lupus, 2023 Apr. PMID 36876466
  2. Functions and clinical significance of KLRG1 in the development of lung adenocarcinoma and immunotherapy. Yang X, et al. BMC Cancer, 2021 Jun 29. PMID 34187403, Free PMC Article
  3. Development of Antihuman Killer Cell Lectin-Like Receptor Subfamily G Member 1 Monoclonal Antibodies for Flow Cytometry. Asano T, et al. Monoclon Antib Immunodiagn Immunother, 2021 Apr. PMID 33900816
  4. Early KLRG1(+) but Not CD57(+)CD8(+) T Cells in Primary Cytomegalovirus Infection Predict Effector Function and Viral Control. Hoji A, et al. J Immunol, 2019 Oct 15. PMID 31554693, Free PMC Article
  5. Highly differentiated cytotoxic T cells in inclusion body myositis. Greenberg SA, et al. Brain, 2019 Sep 1. PMID 31326977

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KLRG1 expression on natural killer cells is associated with HIV persistence, and its targeting promotes the reduction of the viral reservoir.
    Title: KLRG1 expression on natural killer cells is associated with HIV persistence, and its targeting promotes the reduction of the viral reservoir.
  2. KLRG1 is reduced on NK cells in SLE patients, inversely correlates with disease activity and is modulated by hydroxychloroquine in vitro.
    Title: KLRG1 is reduced on NK cells in SLE patients, inversely correlates with disease activity and is modulated by hydroxychloroquine in vitro.
  3. N-cadherin protects oral cancer cells from NK cell killing in the circulation by inducing NK cell functional exhaustion via the KLRG1 receptor.
    Title: N-cadherin protects oral cancer cells from NK cell killing in the circulation by inducing NK cell functional exhaustion via the KLRG1 receptor.
  4. Increased expression of TIGIT and KLRG1 correlates with impaired CD56(bright) NK cell immunity in HPV16-related cervical intraepithelial neoplasia.
    Title: Increased expression of TIGIT and KLRG1 correlates with impaired CD56(bright) NK cell immunity in HPV16-related cervical intraepithelial neoplasia.
  5. Expression and Clinical Significance of KLRG1 and 2B4 on T Cells in the Peripheral Blood and Tumour of Patients with Cervical Cancer.
    Title: Expression and Clinical Significance of KLRG1 and 2B4 on T Cells in the Peripheral Blood and Tumour of Patients with Cervical Cancer.
  6. Expression of KLRG1 and CD127 defines distinct CD8(+) subsets that differentially impact patient outcome in follicular lymphoma.
    Title: Expression of KLRG1 and CD127 defines distinct CD8(+) subsets that differentially impact patient outcome in follicular lymphoma.
  7. Development of Antihuman Killer Cell Lectin-Like Receptor Subfamily G Member 1 Monoclonal Antibodies for Flow Cytometry.
    Title: Development of Antihuman Killer Cell Lectin-Like Receptor Subfamily G Member 1 Monoclonal Antibodies for Flow Cytometry.
  8. Functions and clinical significance of KLRG1 in the development of lung adenocarcinoma and immunotherapy.
    Title: Functions and clinical significance of KLRG1 in the development of lung adenocarcinoma and immunotherapy.
  9. An atlas of immune cell exhaustion in HIV-infected individuals revealed by single-cell transcriptomics.
    Title: An atlas of immune cell exhaustion in HIV-infected individuals revealed by single-cell transcriptomics.
  10. KLRG1 and CD103 Expressions Define Distinct Intestinal Tissue-Resident Memory CD8 T Cell Subsets Modulated in Crohn's Disease.
    Title: KLRG1 and CD103 Expressions Define Distinct Intestinal Tissue-Resident Memory CD8 T Cell Subsets Modulated in Crohn's Disease.
Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC13600

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
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 cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular defense response TAS
Traceable Author Statement
more info
 PubMed 
involved_in inflammatory response TAS
Traceable Author Statement
more info
 PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
killer cell lectin-like receptor subfamily G member 1
Names
C-type lectin domain family 15 member A
ITIM-containing receptor MAFA-L
MAFA-like receptor
killer cell lectin-like receptor subfamily G, member 1
mast cell function-associated antigen (ITIM-containing)

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.

mRNA and Protein(s)

  1. NM_001329099.2 → NP_001316028.1  killer cell lectin-like receptor subfamily G member 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC006581, BC012621
    Consensus CDS
    CCDS86277.1
    UniProtKB/Swiss-Prot
    B7ZAM2, O43198, O75613, Q96E93
    UniProtKB/TrEMBL
    B4DW47
    Related
    ENSP00000266551.4, ENST00000266551.8
    Conserved Domains (1) summary
    cd03593
    Location:75 → 186
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

  2. NM_001329101.2 → NP_001316030.1  killer cell lectin-like receptor subfamily G member 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC006581, DT217650

  3. NM_001329102.2 → NP_001316031.1  killer cell lectin-like receptor subfamily G member 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC006581

  4. NM_001329103.2 → NP_001316032.1  killer cell lectin-like receptor subfamily G member 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC006581

  5. NM_005810.4 → NP_005801.3  killer cell lectin-like receptor subfamily G member 1 isoform b

    See identical proteins and their annotated locations for NP_005801.3

    Status: REVIEWED

    Source sequence(s)
    AC006581, AF097358, AI433079, BC012621
    Consensus CDS
    CCDS8599.1
    UniProtKB/TrEMBL
    B4DW47
    Related
    ENSP00000349477.3, ENST00000356986.8
    Conserved Domains (1) summary
    cd03593
    Location:75 → 186
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

RNA

  1. NR_137426.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006581

  2. NR_137427.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006581, BQ212545

  3. NR_137428.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006581

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    8950044..9215570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428075.1 → XP_047284031.1  killer cell lectin-like receptor subfamily G member 1 isoform X2

  2. XM_017018685.2 → XP_016874174.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

    UniProtKB/TrEMBL
    B4DW47

  3. XM_047428074.1 → XP_047284030.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

  4. XM_017018684.2 → XP_016874173.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

    UniProtKB/TrEMBL
    B4DW47

  5. XM_017018682.2 → XP_016874171.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

    UniProtKB/TrEMBL
    B4DW47

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    8932277..9198833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370763.1 → XP_054226738.1  killer cell lectin-like receptor subfamily G member 1 isoform X2

  2. XM_054370762.1 → XP_054226737.1  killer cell lectin-like receptor subfamily G member 1 isoform X3

  3. XM_054370760.1 → XP_054226735.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

  4. XM_054370761.1 → XP_054226736.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

  5. XM_054370759.1 → XP_054226734.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

  6. XM_054370758.1 → XP_054226733.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

  7. XM_054370757.1 → XP_054226732.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96E93.1 GenPept UniProtKB/Swiss-Prot:Q96E93

Gene LinkOut

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