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

    Gene ID: 10219, updated on 2-Nov-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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    See KLRG1 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8950044..9215570)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8932277..9198833)
    RS_2024_09 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_chr12:9101505-9102410 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:9102411-9103315 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 heterogeneous nuclear ribonucleoprotein A1 pseudogene 34 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 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. Expression of HLA-DR and KLRG1 enhances the cytotoxic potential and cytokine secretion capacity of CD3(+) T cells in tuberculosis patients. Yang Y, et al. Int Immunopharmacol, 2024 May 30. PMID 38652959
    2. Possible interactions between the Fc epsilon receptor and a novel mast cell function-associated antigen. Ortega E, et al. Int Immunol, 1991 Apr. PMID 1831652
    3. Human MAFA has alternatively spliced variants. Lamers MB, et al. Biochim Biophys Acta, 1998 Aug 20. PMID 9765598
    4. MAFA-L, an ITIM-containing receptor encoded by the human NK cell gene complex and expressed by basophils and NK cells. Butcher S, et al. Eur J Immunol, 1998 Nov. PMID 9842918
    5. Lack of proliferative capacity of human effector and memory T cells expressing killer cell lectinlike receptor G1 (KLRG1). Voehringer D, et al. Blood, 2002 Nov 15. PMID 12393723

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of HLA-DR and KLRG1 enhances the cytotoxic potential and cytokine secretion capacity of CD3[+] T cells in tuberculosis patients.
      Title: Expression of HLA-DR and KLRG1 enhances the cytotoxic potential and cytokine secretion capacity of CD3(+) T cells in tuberculosis patients.
    2. KLRG1-expressing CD8+ T cells are exhausted and polyfunctional in patients with chronic hepatitis B.
      Title: KLRG1-expressing CD8+ T cells are exhausted and polyfunctional in patients with chronic hepatitis B.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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