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

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-152873 (e-PCR)
- UniSTS:173380

RH65666 (e-PCR)
- UniSTS:25669

D12S1695 (e-PCR), detects polymorphism
- UniSTS:75232

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

Go to the top of the page Help

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)

Go to the top of the page Help

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.

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC006581, DT217650
NM_001329102.2 → NP_001316031.1 killer cell lectin-like receptor subfamily G member 1 isoform c

Status: REVIEWED

Source sequence(s)

AC006581
NM_001329103.2 → NP_001316032.1 killer cell lectin-like receptor subfamily G member 1 isoform c

Status: REVIEWED

Source sequence(s)

AC006581
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

NR_137426.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC006581
NR_137427.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC006581, BQ212545
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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

8950044..9215570

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428075.1 → XP_047284031.1 killer cell lectin-like receptor subfamily G member 1 isoform X2
XM_017018685.2 → XP_016874174.1 killer cell lectin-like receptor subfamily G member 1 isoform X1

UniProtKB/TrEMBL

B4DW47
XM_047428074.1 → XP_047284030.1 killer cell lectin-like receptor subfamily G member 1 isoform X1
XM_017018684.2 → XP_016874173.1 killer cell lectin-like receptor subfamily G member 1 isoform X1

UniProtKB/TrEMBL

B4DW47
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

NC_060936.1 Alternate T2T-CHM13v2.0

Range

8932277..9198833

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370763.1 → XP_054226738.1 killer cell lectin-like receptor subfamily G member 1 isoform X2
XM_054370762.1 → XP_054226737.1 killer cell lectin-like receptor subfamily G member 1 isoform X3
XM_054370760.1 → XP_054226735.1 killer cell lectin-like receptor subfamily G member 1 isoform X1
XM_054370761.1 → XP_054226736.1 killer cell lectin-like receptor subfamily G member 1 isoform X1
XM_054370759.1 → XP_054226734.1 killer cell lectin-like receptor subfamily G member 1 isoform X1
XM_054370758.1 → XP_054226733.1 killer cell lectin-like receptor subfamily G member 1 isoform X1
XM_054370757.1 → XP_054226732.1 killer cell lectin-like receptor subfamily G member 1 isoform X1