Aliases for KLRC1 Gene
Aliases for KLRC1 Gene
External Ids for KLRC1 Gene
- HGNC: 6374
- Entrez Gene: 3821
- Ensembl: ENSG00000134545
- OMIM: 161555
- UniProtKB: P26715
Previous HGNC Symbols for KLRC1 Gene
- NKG2
Previous GeneCards Identifiers for KLRC1 Gene
- GC12M010302
- GC12M010712
- GC12M010483
- GC12M010489
- GC12M010598
- GC12M010325
- GC12M010708
- GC12M010720
- GC12M010783
- GC12M011020
- GC12M011309
- GC12M011542
- GC12M011734
Summaries 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 Bare Lymphocyte Syndrome, Type I. Among its related pathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Innate Immune System. 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 for KLRC1 Gene
-
Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.
Additional gene information for KLRC1 Gene
- Monarch Initiative
- Search for KLRC1 at DataMed
- Search for KLRC1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLRC1 Gene
Genomics for KLRC1 Gene
GeneHancer (GH) Regulatory Elements for KLRC1 Gene
Promoters and enhancers for KLRC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KLRC1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for KLRC1 Gene
Genomic Locations for KLRC1 Gene
- chr12:10,442,264-10,454,685
- (GRCh38/hg38)
- Size:
- 12,422 bases
- Orientation:
- Minus strand
- chr12:10,594,863-10,607,284
- (GRCh37/hg19)
Genomic View for KLRC1 Gene
Genes around KLRC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.2 by Ensembl
- 12p13.2 by Entrez Gene
- 12p13 by HGNC
KLRC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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:
-
- Can form disulfide-bonded heterodimer with CD94.
Three dimensional structures from OCA and Proteopedia for KLRC1 Gene
Protein Expression for KLRC1 Gene
Post-translational modifications for KLRC1 Gene
Other Protein References for KLRC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for KLRC1 (NKG2A/CD159a)
-
Custom Antibody ServicesOriGene Antibodies for KLRC1
- Novus Biologicals Antibodies for KLRC1
-
Abcam antibodies for KLRC1
- Invitrogen Antibodies for KLRC1
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Protein Products
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- ProSpec Recombinant Proteins for KLRC1
- Search GeneTex for Proteins for KLRC1
-
Abcam proteins for KLRC1
Assay Products
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KLRC1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for KLRC1 Gene
Function for KLRC1 Gene
Molecular function for KLRC1 Gene
- GENATLAS Biochemistry:
- natural killer cell lectin-like receptor subfamily C,member 1 with two alternatively spliced isoforms A (NKG2A),B (NKG2B)
- UniProtKB/Swiss-Prot Function:
- Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.
Phenotypes From GWAS Catalog for KLRC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004888 | transmembrane signaling receptor activity | TAS | 2007850 |
| GO:0005515 | protein binding | IPI | 18083576 |
| GO:0023024 | MHC class I protein complex binding | IPI | 18448674 |
| GO:0030246 | carbohydrate binding | IEA | -- |
| GO:1990405 | NOT protein antigen binding | IDA | 18448674 |
Phenotypes for KLRC1 Gene
- MGI mutant phenotypes for KLRC1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KLRC1:
Animal Models for KLRC1 Gene
- MGI Knock Outs for KLRC1:
-
- Klrc1 tm1Mmka
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for KLRC1 gene
-
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- Search ViGene Biosciences for KLRC1
CRISPR Products
-
OriGene CRISPR knockouts for KLRC1
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Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA for KLRC1 Gene
- miRTarBase miRNAs that target KLRC1
miRNA Products
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available KLRC1 gene related products
- orf clones - Search results for available KLRC1 gene related products
- Applied Biological Materials Clones for KLRC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KLRC1
-
ViGene Biosciences adenoviral particle packaged cDNA for KLRC1 gene
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-
ViGene Biosciences ready-to-package AAV shRNAs for KLRC1 gene
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
- Membrane; Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 2007850 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0043235 | receptor complex | IDA | 18448674 |
Pathways & Interactions for KLRC1 Gene
Pathways by source for KLRC1 Gene
3 Reactome pathways for KLRC1 Gene
3 KEGG pathways for KLRC1 Gene
3 GeneGo (Thomson Reuters) pathways for KLRC1 Gene
1 R&D Systems pathway for KLRC1 Gene
Interacting Proteins for KLRC1 Gene
Selected Interacting proteins:
ENSP00000352064
P26715-NKG2A_HUMAN
for KLRC1 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007166 | cell surface receptor signaling pathway | TAS | 2007850 |
| GO:0050776 | regulation of immune response | TAS | -- |
Drugs & Compounds for KLRC1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for KLRC1 Gene
mRNA/cDNA for KLRC1 Gene
- (5) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (53) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for KLRC1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KLRC1
- genomics-online: gRNA clones - Search results for available KLRC1 gene related products
- Applied Biological Materials CRISPR for KLRC1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLRC1
- GenScript: Design CRISPR guide RNA sequences for KLRC1
miRNA Products
- Search ViGene Biosciences for KLRC1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KLRC1
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- genomics-online: shRNA clones - Search results for available KLRC1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KLRC1 gene
Clone Products
- Sino Biological Human cDNA Clone for KLRC1
- VectorBuilder custom plasmid, inducible vectors for KLRC1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KLRC1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available KLRC1 gene related products
- orf clones - Search results for available KLRC1 gene related products
- Applied Biological Materials Clones for KLRC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||
| SP5: |
Expression for KLRC1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Natural Killer Cells Peripheral Blood
-
Spleen (Hematopoietic System)
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).
This gene is overexpressed in Breast (50.4) and Liver (18.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLRC1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of KLRC1 Gene:
KLRC1SOURCE GeneReport for Unigene cluster for KLRC1 Gene:
Hs.512576mRNA Expression by UniProt/SwissProt for KLRC1 Gene:
P26715-NKG2A_HUMAN
Tissue specificity:
Natural killer cells.
Evidence on tissue expression from TISSUES for KLRC1 Gene
- Blood(4.5)
- Kidney(4)
Primer Products
-
OriGene qPCR primer pairs and template standards for KLRC1
-
OriGene qPCR primer pairs for KLRC1
- genomics-online: primer clones - Search results for available KLRC1 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KLRC1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | KLRC1 33 |
|
||
| NKG2C 34 |
|
ManyToMany | |||
| mouse (Mus musculus) |
Mammalia | Klrc1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100910089 33 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
ManyToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany |
- Species where no ortholog for KLRC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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)
Paralogs for KLRC1 Gene
(18) SIMAP similar genes for KLRC1 Gene using alignment to 4 proteins:
Variants for KLRC1 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000090298 | -- | 10,451,503(-) | A/G | intron_variant | |
| rs1000255643 | -- | 10,448,997(-) | T/C/G | intron_variant | |
| rs1000475424 | -- | 10,455,035(-) | T/C | upstream_transcript_variant | |
| rs1000508015 | -- | 10,447,122(-) | C/G | intron_variant | |
| rs1001175658 | -- | 10,444,912(-) | T/C | genic_downstream_transcript_variant, intron_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLRC1 Gene
Disorders for KLRC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bare lymphocyte syndrome, type i |
|
|
Search KLRC1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KLRC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for KLRC1 Gene
Publications for KLRC1 Gene
- 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 58
- 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 58
- 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 44 58
- Genomic structure, chromosome location, and alternative splicing of the human NKG2A gene. (PMID: 8753859) Plougastel B … Trowsdale J (Immunogenetics 1996) 3 4 22 58
- DNA sequence analysis of NKG2, a family of related cDNA clones encoding type II integral membrane proteins on human natural killer cells. (PMID: 2007850) Houchins JP … Bach FH (The Journal of experimental medicine 1991) 3 4 22 58
Products for KLRC1 Gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for KLRC1
- VectorBuilder custom plasmid, inducible vectors for KLRC1
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 135 available KLRC1 Antibodies ranked by validation data
- Compare Top KLRC1 Antibodies
- antibodies-online: Search results for available KLRC1 related products ranked by validation data
- antibodies-online: Search results for 11 available KLRC1 Proteins ranked by validation data
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- GeneTex KLRC1 antibody for KLRC1
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- ViGene Biosciences adenoviral particle packaged cDNA for KLRC1 gene
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Sources for KLRC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
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