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

Gene ID: 10219, updated on 3-Sep-2017
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; Vega:OTTHUMG00000168277
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]
Orthologs
Location:
12p13.31
Exon count:
14
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (8989079..9255692)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (9142137..9163343)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene alpha-2-macroglobulin like 1 Neighboring gene polyhomeotic homolog 1 Neighboring gene mannose-6-phosphate receptor, cation dependent Neighboring gene voltage dependent anion channel 2 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 612 Neighboring gene A2M antisense RNA 1 (head to head) Neighboring gene alpha-2-macroglobulin Neighboring gene keratin 17 pseudogene 8 Neighboring gene BTG anti-proliferation factor 1 pseudogene 1 Neighboring gene tumor protein, translationally-controlled 1 pseudogene 12 Neighboring gene PZP, alpha-2-macroglobulin like Neighboring gene microRNA 1244-3 Neighboring gene long intergenic non-protein coding RNA 987 Neighboring gene alpha-2-macroglobulin pseudogene 1 Neighboring gene prothymosin, alpha pseudogene 4 Neighboring gene DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like Neighboring gene uncharacterized LOC107984489

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC13600

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cellular defense response TAS
Traceable Author Statement
more info
PubMed 
inflammatory response TAS
Traceable Author Statement
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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_001329099.1NP_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)
    BC012621
    UniProtKB/Swiss-Prot
    Q96E93
    Conserved Domains (1) summary
    cd03593
    Location:75186
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  2. NM_001329101.1NP_001316030.1  killer cell lectin-like receptor subfamily G member 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC006581, DT217650
  3. NM_001329102.1NP_001316031.1  killer cell lectin-like receptor subfamily G member 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC006581
  4. NM_001329103.1NP_001316032.1  killer cell lectin-like receptor subfamily G member 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC006581
  5. NM_005810.3NP_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)
    AF097358, AI433079, BC012621
    Consensus CDS
    CCDS8599.1
    UniProtKB/Swiss-Prot
    Q96E93
    Related
    ENSP00000349477.3, OTTHUMP00000238502, ENST00000356986.7, OTTHUMT00000399144
    Conserved Domains (1) summary
    cd03593
    Location:75186
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

RNA

  1. NR_137426.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006581
  2. NR_137427.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006581, BQ212545
  3. NR_137428.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006581

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    8989079..9255692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

  3. XM_017018683.1XP_016874172.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

  4. XM_017018682.1XP_016874171.1  killer cell lectin-like receptor subfamily G member 1 isoform X1

RNA

  1. XR_001748548.1 RNA Sequence

  2. XR_001748546.1 RNA Sequence

  3. XR_001748545.1 RNA Sequence

  4. XR_001748547.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    9111184..9132306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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