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 family, also called NKG2 family, which is a group of transmembrane proteins preferentiall... See more...

Aliases for KLRC1 Gene

Aliases for KLRC1 Gene

  • Killer Cell Lectin Like Receptor C1 2 3 5
  • Killer Cell Lectin-Like Receptor Subfamily C, Member 1 2 3
  • NKG2-A/NKG2-B Type II Integral Membrane Protein 3 4
  • CD159 Antigen-Like Family Member A 3 4
  • NKG2-1/B Activating NK Receptor 2 3
  • NKG2-A/B-Activating NK Receptor 3 4
  • NK Cell Receptor A 3 4
  • NKG2A 3 4
  • NKG2-A/B Type II Integral Membrane Protein 3
  • Natural Killer Group Protein 2 3
  • Natural Killer Cell Lectin 3
  • C-Lectin Type II Protein 3
  • CD159a Antigen 4
  • CD159A 3
  • NKG2-A 2
  • NKG2-B 2
  • CD159a 2
  • KLRC1 5
  • NKG2 3

External Ids for KLRC1 Gene

Previous HGNC Symbols for KLRC1 Gene

  • NKG2

Previous GeneCards Identifiers for KLRC1 Gene

  • GC12M010302
  • GC12M010712
  • GC12M010483
  • GC12M010489
  • GC12M010598
  • GC12M010325
  • GC12M010708
  • GC12M010720
  • GC12M012418
  • GC12M012637
  • GC12M012792
  • GC12M013377
  • GC12M010783
  • GC12M011020
  • GC12M011309
  • GC12M011542
  • GC12M011734
  • GC12M011921
  • GC12M012107
  • GC12M012283
  • GC12M013870
  • GC12M014390

Summaries for KLRC1 Gene

Entrez Gene Summary for KLRC1 Gene

  • 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 family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]

GeneCards Summary for KLRC1 Gene

KLRC1 (Killer Cell Lectin Like Receptor C1) is a Protein Coding gene. Diseases associated with KLRC1 include Nasal Type Extranodal Nk/T-Cell Lymphoma and Nk Cell Deficiency. Among its related pathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and MHC class I protein complex binding. An important paralog of this gene is KLRC2.

UniProtKB/Swiss-Prot Summary for KLRC1 Gene

  • Immune inhibitory receptor involved in self-nonself discrimination. In complex with KLRD1 on cytotoxic and regulatory lymphocyte subsets, recognizes non-classical major histocompatibility (MHC) class Ib molecule HLA-E loaded with self-peptides derived from the signal sequence of classical MHC class Ia molecules. Enables cytotoxic cells to monitor the expression of MHC class I molecules in healthy cells and to tolerate self (PubMed:9486650, PubMed:18083576, PubMed:9430220). Upon HLA-E-peptide binding, transmits intracellular signals through two immunoreceptor tyrosine-based inhibition motifs (ITIMs) by recruiting INPP5D/SHP-1 and INPPL1/SHP-2 tyrosine phosphatases to ITIMs, and ultimately opposing signals transmitted by activating receptors through dephosphorylation of proximal signaling molecules (PubMed:9485206, PubMed:12165520). Key inhibitory receptor on natural killer (NK) cells that regulates their activation and effector functions (PubMed:9486650, PubMed:9430220, PubMed:9485206, PubMed:30860984). Dominantly counteracts T cell receptor signaling on a subset of memory/effector CD8-positive T cells as part of an antigen-driven response to avoid autoimmunity (PubMed:12387742). On intraepithelial CD8-positive gamma-delta regulatory T cells triggers TGFB1 secretion, which in turn limits the cytotoxic programming of intraepithelial CD8-positive alpha-beta T cells, distinguishing harmless from pathogenic antigens (PubMed:18064301). In HLA-E-rich tumor microenvironment, acts as an immune inhibitory checkpoint and may contribute to progressive loss of effector functions of NK cells and tumor-specific T cells, a state known as cell exhaustion (PubMed:30503213, PubMed:30860984).
  • (Microbial infection) Viruses like human cytomegalovirus have evolved an escape mechanism whereby virus-induced down-regulation of host MHC class I molecules is coupled to the binding of viral peptides to HLA-E, restoring HLA-E expression and inducing HLA-E-dependent NK cell immune tolerance to infected cells. Recognizes HLA-E in complex with human cytomegalovirus UL40-derived peptide (VMAPRTLIL) and inhibits NK cell cytotoxicity.
  • (Microbial infection) May recognize HLA-E in complex with HIV-1 gag/Capsid protein p24-derived peptide (AISPRTLNA) on infected cells and may inhibit NK cell cytotoxicity, a mechanism that allows HIV-1 to escape immune recognition.
  • (Microbial infection) Upon SARS-CoV-2 infection, may contribute to functional exhaustion of cytotoxic NK cells and CD8-positive T cells (PubMed:32203188, PubMed:32859121). On NK cells, may recognize HLA-E in complex with SARS-CoV-2 S/Spike protein S1-derived peptide (LQPRTFLL) expressed on the surface of lung epithelial cells, inducing NK cell exhaustion and dampening antiviral immune surveillance (PubMed:32859121).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLRC1 Gene

Genomics for KLRC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KLRC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J010453 Promoter 0.4 EPDnew 250.7 +1.3 1290 0.1 CEBPB KLRC1 HSALNG0089235 KLRC2
GH12J010360 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10 +90.4 90445 7.3 ZNF654 IKZF1 NCOR1 ZNF600 ZNF580 ZNF592 ATF2 POLR2A ZNF10 NFIC KLRK1-AS1 piR-30791-020 KLRK1 DDX12P NPM1P7 KLRA1P EIF2S3B ENSG00000257027 ENSG00000256682 CLEC2D
GH12J010557 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 17 -103.8 -103837 2.9 CBFB ZNF24 MTA3 ATF2 JUNB ZBED1 SMAD5 TBL1XR1 MTA2 YY1 KLRK1 KLRC4 KLRC1 KLRD1 KLRC4-KLRK1 KLRA1P LINC02446 KLRC3 KLRC2 lnc-EIF2S3B-5
GH12J010562 Enhancer 0.8 Ensembl ENCODE dbSUPER 23.4 -106.9 -106916 2.8 ZNF654 ZNF10 CTCF REST TRIM22 RAD21 SMC3 KLRC1 KLRK1 STYK1 KLRA1P TMEM52B KLRK1-AS1 KLRC3 KLRC2 lnc-EIF2S3B-5 LINC02446
GH12J010384 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 +67.2 67233 5.1 CEBPB FEZF1 ZNF639 ZEB1 ZNF513 EP300 FOXA2 TBP TCF7L2 NFE2 KLRK1 TAS2R19 TAS2R14 TAS2R31 TAS2R15P TAS2R10 MAGOHB KLRA1P KLRC3 KLRK1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLRC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLRC1

Top Transcription factor binding sites by QIAGEN in the KLRC1 gene promoter:
  • AML1a
  • Bach2
  • FOXF2
  • FOXJ2
  • Pax-3

Genomic Locations for KLRC1 Gene

Latest Assembly
chr12:10,441,673-10,454,685
(GRCh38/hg38)
Size:
13,013 bases
Orientation:
Minus strand

Previous Assembly
chr12:10,594,863-10,607,284
(GRCh37/hg19 by Entrez Gene)
Size:
12,422 bases
Orientation:
Minus strand

chr12:10,594,863-10,607,284
(GRCh37/hg19 by Ensembl)
Size:
12,422 bases
Orientation:
Minus strand

Genomic View for KLRC1 Gene

Genes around KLRC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLRC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLRC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLRC1 Gene

Proteins for KLRC1 Gene

  • Protein details for KLRC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26715-NKG2A_HUMAN
    Recommended name:
    NKG2-A/NKG2-B type II integral membrane protein
    Protein Accession:
    P26715

    Protein attributes for KLRC1 Gene

    Size:
    233 amino acids
    Molecular mass:
    26314 Da
    Quaternary structure:
    • Heterodimer with KLRD1; disulfide-linked (PubMed:18083576, PubMed:18332182, PubMed:18448674). KLRD1-KLRC1 heterodimer interacts with peptide-bound HLA-E-B2M heterotrimeric complex (PubMed:18083576). Competes with KLRC2 for its interaction with HLA-E (PubMed:18083576). Interacts (via ITIM) with INPP5D/SHIP-1 and INPPL1/SHIP-2 (via SH2 domain).

    Three dimensional structures from OCA and Proteopedia for KLRC1 Gene

    Alternative splice isoforms for KLRC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLRC1 Gene

Post-translational modifications for KLRC1 Gene

No data available for DME Specific Peptides for KLRC1 Gene

Domains & Families for KLRC1 Gene

Gene Families for KLRC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KLRC1 Gene

Suggested Antigen Peptide Sequences for KLRC1 Gene

GenScript: Design optimal peptide antigens:
  • NKG2-A/B-activating NK receptor (NKG2A_HUMAN)
  • NKG2-A (Q8NIA5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P26715

UniProtKB/Swiss-Prot:

NKG2A_HUMAN :
  • The cytosolic N-terminus contains two immunoreceptor tyrosine-based inhibitory motifs (ITIMs), which are essential for the association with INPP5D/SHIP-1 and INPPL1/SHIP-2 phosphatases and functional inhibition.
Domain:
  • The cytosolic N-terminus contains two immunoreceptor tyrosine-based inhibitory motifs (ITIMs), which are essential for the association with INPP5D/SHIP-1 and INPPL1/SHIP-2 phosphatases and functional inhibition.
genes like me logo Genes that share domains with KLRC1: view

Function for KLRC1 Gene

Molecular function for KLRC1 Gene

UniProtKB/Swiss-Prot Function:
Immune inhibitory receptor involved in self-nonself discrimination. In complex with KLRD1 on cytotoxic and regulatory lymphocyte subsets, recognizes non-classical major histocompatibility (MHC) class Ib molecule HLA-E loaded with self-peptides derived from the signal sequence of classical MHC class Ia molecules. Enables cytotoxic cells to monitor the expression of MHC class I molecules in healthy cells and to tolerate self (PubMed:9486650, PubMed:18083576, PubMed:9430220). Upon HLA-E-peptide binding, transmits intracellular signals through two immunoreceptor tyrosine-based inhibition motifs (ITIMs) by recruiting INPP5D/SHP-1 and INPPL1/SHP-2 tyrosine phosphatases to ITIMs, and ultimately opposing signals transmitted by activating receptors through dephosphorylation of proximal signaling molecules (PubMed:9485206, PubMed:12165520). Key inhibitory receptor on natural killer (NK) cells that regulates their activation and effector functions (PubMed:9486650, PubMed:9430220, PubMed:9485206, PubMed:30860984). Dominantly counteracts T cell receptor signaling on a subset of memory/effector CD8-positive T cells as part of an antigen-driven response to avoid autoimmunity (PubMed:12387742). On intraepithelial CD8-positive gamma-delta regulatory T cells triggers TGFB1 secretion, which in turn limits the cytotoxic programming of intraepithelial CD8-positive alpha-beta T cells, distinguishing harmless from pathogenic antigens (PubMed:18064301). In HLA-E-rich tumor microenvironment, acts as an immune inhibitory checkpoint and may contribute to progressive loss of effector functions of NK cells and tumor-specific T cells, a state known as cell exhaustion (PubMed:30503213, PubMed:30860984).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Viruses like human cytomegalovirus have evolved an escape mechanism whereby virus-induced down-regulation of host MHC class I molecules is coupled to the binding of viral peptides to HLA-E, restoring HLA-E expression and inducing HLA-E-dependent NK cell immune tolerance to infected cells. Recognizes HLA-E in complex with human cytomegalovirus UL40-derived peptide (VMAPRTLIL) and inhibits NK cell cytotoxicity.
UniProtKB/Swiss-Prot Function:
(Microbial infection) May recognize HLA-E in complex with HIV-1 gag/Capsid protein p24-derived peptide (AISPRTLNA) on infected cells and may inhibit NK cell cytotoxicity, a mechanism that allows HIV-1 to escape immune recognition.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Upon SARS-CoV-2 infection, may contribute to functional exhaustion of cytotoxic NK cells and CD8-positive T cells (PubMed:32203188, PubMed:32859121). On NK cells, may recognize HLA-E in complex with SARS-CoV-2 S/Spike protein S1-derived peptide (LQPRTFLL) expressed on the surface of lung epithelial cells, inducing NK cell exhaustion and dampening antiviral immune surveillance (PubMed:32859121).
UniProtKB/Swiss-Prot Induction:
Up-regulated in memory CD8-positive alpha-beta T cell clones upon antigen-specific stimulation.
GENATLAS Biochemistry:
natural killer cell lectin-like receptor subfamily C,member 1 with two alternatively spliced isoforms A (NKG2A),B (NKG2B)

Phenotypes From GWAS Catalog for KLRC1 Gene

Gene Ontology (GO) - Molecular Function for KLRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 2007850
GO:0005515 protein binding IPI 9485206
GO:0023024 MHC class I protein complex binding IPI 18448674
GO:0030246 carbohydrate binding IEA --
GO:1990405 NOT protein antigen binding IDA 18448674
genes like me logo Genes that share ontologies with KLRC1: view
genes like me logo Genes that share phenotypes with KLRC1: view

Animal Models for KLRC1 Gene

MGI Knock Outs for KLRC1:

miRNA for KLRC1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLRC1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLRC1 Gene

Localization for KLRC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLRC1 Gene

Cell membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLRC1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IDA 9485206
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IDA 18448674
genes like me logo Genes that share ontologies with KLRC1: view

Pathways & Interactions for KLRC1 Gene

genes like me logo Genes that share pathways with KLRC1: view

Pathways by source for KLRC1 Gene

3 GeneGo (Thomson Reuters) pathways for KLRC1 Gene
  • Immune response CD16 signaling in NK cells
  • Immune response Role of DAP12 receptors in NK cells
  • Immune response_Role of integrins in NK cells cytotoxicity

SIGNOR curated interactions for KLRC1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KLRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001915 negative regulation of T cell mediated cytotoxicity IDA 9485206
GO:0002305 CD8-positive, gamma-delta intraepithelial T cell differentiation IDA 18064301
GO:0002769 natural killer cell inhibitory signaling pathway IDA 9485206
GO:0007166 cell surface receptor signaling pathway TAS 2007850
GO:0045953 negative regulation of natural killer cell mediated cytotoxicity IDA 9485206
genes like me logo Genes that share ontologies with KLRC1: view

Drugs & Compounds for KLRC1 Gene

(7) Drugs for KLRC1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adalimumab Approved, Experimental Pharma 623
Certolizumab pegol Approved Pharma 152
Etanercept Approved, Investigational Pharma 468
Infliximab Approved Pharma 485
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1884

(1) Additional Compounds for KLRC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KLRC1: view

Transcripts for KLRC1 Gene

mRNA/cDNA for KLRC1 Gene

5 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLRC1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for KLRC1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for KLRC1 Gene

GeneLoc Exon Structure for
KLRC1

Expression for KLRC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLRC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLRC1 Gene

This gene is overexpressed in Whole Blood (x10.7) and Spleen (x6.3).

Protein differential expression in normal tissues from HIPED for KLRC1 Gene

This gene is overexpressed in Breast (50.4) and Liver (18.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLRC1 Gene



Protein tissue co-expression partners for KLRC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLRC1

SOURCE GeneReport for Unigene cluster for KLRC1 Gene:

Hs.512576

mRNA Expression by UniProt/SwissProt for KLRC1 Gene:

P26715-NKG2A_HUMAN
Tissue specificity: Predominantly expressed in NK cells (at protein level) (PubMed:9430220, PubMed:9485206, PubMed:20952657). Expressed in intraepithelial CD8-positive T cell subsets with higher frequency in gamma-delta T cells than alpha-beta T cells (at protein level) (PubMed:18064301). Expressed in memory gamma-delta T cells (at protein level) (PubMed:20952657). Restricted to a subset of memory/effector CD8-positive alpha-beta T cells (at protein level) (PubMed:12387742). Expressed in intratumoral NK and CD8-positive T cells (PubMed:30503213). Expressed in melanoma-specific cytotoxic T cell clones (at protein level) (PubMed:9485206). KLRD1-KLRC1 and KLRD1-KLRC2 are differentially expressed in NK and T cell populations, with only minor subsets expressing both receptor complexes (at protein level) (PubMed:20952657).

Evidence on tissue expression from TISSUES for KLRC1 Gene

  • Blood(4.6)
  • Kidney(4.3)
  • Spleen(2.5)
  • Lymph node(2.3)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with KLRC1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KLRC1 Gene

Orthologs for KLRC1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLRC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KLRC1 29 30
  • 98.86 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KLRC1 29
  • 70.83 (n)
NKG2C 30
  • 47 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Klrc1 29 16 30
  • 65.95 (n)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia LOC100910089 29
  • 64.33 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 27 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 27 (a)
ManyToMany
Species where no ortholog for KLRC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KLRC1 Gene

ENSEMBL:
Gene Tree for KLRC1 (if available)
TreeFam:
Gene Tree for KLRC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLRC1: view image
Alliance of Genome Resources:
Additional Orthologs for KLRC1

Paralogs for KLRC1 Gene

(18) SIMAP similar genes for KLRC1 Gene using alignment to 4 proteins:

  • NKG2A_HUMAN
  • F5GYZ0_HUMAN
  • H0YGB7_HUMAN
  • Q8NIA5_HUMAN
genes like me logo Genes that share paralogs with KLRC1: view

Variants for KLRC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLRC1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs2253849 -- p.Asn29Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KLRC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KLRC1 Gene

Variant ID Type Subtype PubMed ID
dgv171e201 CNV deletion 23290073
dgv2358n54 CNV loss 21841781
dgv2359n54 CNV loss 21841781
dgv2360n54 CNV loss 21841781
dgv2361n54 CNV loss 21841781
dgv264e199 CNV deletion 23128226
dgv270n67 CNV loss 20364138
esv25005 CNV loss 19812545
esv32543 CNV loss 17666407
esv3628535 CNV loss 21293372
esv3892138 CNV loss 25118596
nsv1138097 CNV deletion 24896259
nsv1148413 CNV deletion 26484159
nsv521062 CNV gain 19592680
nsv557476 CNV loss 21841781
nsv606 CNV deletion 18451855
nsv832328 CNV gain 17160897
nsv8914 CNV loss 18304495
nsv975448 CNV duplication 23825009

Variation tolerance for KLRC1 Gene

Residual Variation Intolerance Score: 67.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLRC1 Gene

Human Gene Mutation Database (HGMD)
KLRC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLRC1
Leiden Open Variation Database (LOVD)
KLRC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLRC1 Gene

Disorders for KLRC1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for KLRC1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
nasal type extranodal nk/t-cell lymphoma
  • extranodal nasal nk/t cell lymphoma
nk cell deficiency
  • nk cell defects
bare lymphocyte syndrome, type i
  • bls, type i
trichohepatoenteric syndrome 1
  • thes1
melanoma
  • malignant melanoma
- elite association - COSMIC cancer census association via MalaCards
Search KLRC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLRC1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KLRC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLRC1 Gene

Publications for KLRC1 Gene

  1. Sequence analysis of a 62-kb region overlapping the human KLRC cluster of genes. (PMID: 9598306) Plougastel B … Trowsdale J (Genomics 1998) 2 3 4 22
  2. CD94-NKG2A recognition of human leukocyte antigen (HLA)-E bound to an HLA class I leader sequence. (PMID: 18332182) Petrie EJ … Rossjohn J (The Journal of experimental medicine 2008) 3 4 22
  3. Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion in the general population. (PMID: 12618865) Hikami K … Tokunaga K (Genes and immunity 2003) 3 22 40
  4. TCR specificity dictates CD94/NKG2A expression by human CTL. (PMID: 12387742) Jabri B … Winchester RJ (Immunity 2002) 3 4 22
  5. Inhibition of antigen-induced T cell response and antibody-induced NK cell cytotoxicity by NKG2A: association of NKG2A with SHP-1 and SHP-2 protein-tyrosine phosphatases. (PMID: 9485206) Le Dréan E … Vivier E (European journal of immunology 1998) 3 4 22

Products for KLRC1 Gene

Sources for KLRC1 Gene