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Aliases for KLRC1 Gene

Aliases for KLRC1 Gene

  • Killer Cell Lectin Like Receptor C1 2 3
  • Killer Cell Lectin-Like Receptor Subfamily C, Member 1 2 3 5
  • 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 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

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 vulvar intraepithelial neoplasia and mhc class i deficiency. Among its related pathways are Immune System and Immune response Role of DAP12 receptors in NK cells. 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 KLRK1.

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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLRC1 Gene

Genomics for KLRC1 Gene

Regulatory Elements for KLRC1 Gene

Genomic Location for KLRC1 Gene

Chromosome:
12
Start:
10,442,264 bp from pter
End:
10,454,685 bp from pter
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:
    • Can form disulfide-bonded heterodimer with CD94.

    Three dimensional structures from OCA and Proteopedia for KLRC1 Gene

    Alternative splice isoforms for KLRC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLRC1 Gene

Proteomics data for KLRC1 Gene at MOPED

Post-translational modifications for KLRC1 Gene

  • Glycosylation at Asn 102, Asn 103, Asn 151, and Asn 180
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for KLRC1 Gene

Domains & Families for KLRC1 Gene

Gene Families for KLRC1 Gene

Protein Domains for KLRC1 Gene

Suggested Antigen Peptide Sequences for KLRC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P26715

UniProtKB/Swiss-Prot:

NKG2A_HUMAN :
  • Contains 1 C-type lectin domain.
Domain:
  • Contains 1 C-type lectin domain.
genes like me logo Genes that share domains with KLRC1: view

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.

Gene Ontology (GO) - Molecular Function for KLRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18448674
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:

Animal Model Products

miRNA 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLRC1 Gene COMPARTMENTS Subcellular localization image for KLRC1 gene
Compartment Confidence
plasma membrane 5
cytosol 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for KLRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 2007850
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

SIGNOR curated interactions for KLRC1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KLRC1 Gene

None

Drugs & Compounds for KLRC1 Gene

(1) Drugs for KLRC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(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

Unigene Clusters for KLRC1 Gene

Killer cell lectin-like receptor subfamily C, member 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
KLRC1

Expression for KLRC1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for KLRC1 Gene



SOURCE GeneReport for Unigene cluster for KLRC1 Gene Hs.512576

mRNA Expression by UniProt/SwissProt for KLRC1 Gene

P26715-NKG2A_HUMAN
Tissue specificity: Natural killer cells.
genes like me logo Genes that share expression patterns with KLRC1: view

Protein tissue co-expression partners for KLRC1 Gene

- Elite partner

In Situ Assay Products

Orthologs for KLRC1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLRC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KLRC1 35
  • 70.83 (n)
  • 56.9 (a)
NKG2C 36
  • 47 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Klrc1 35
  • 65.95 (n)
  • 44.4 (a)
Klrc1 16
Klrc1 36
  • 41 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia KLRC1 35
  • 98.86 (n)
  • 98.28 (a)
KLRC1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910089 35
  • 64.33 (n)
  • 46.78 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 27 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 27 (a)
OneToMany
Species with no ortholog for KLRC1:
  • 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)

Evolution for KLRC1 Gene

ENSEMBL:
Gene Tree for KLRC1 (if available)
TreeFam:
Gene Tree for KLRC1 (if available)

Paralogs for KLRC1 Gene

Paralogs for KLRC1 Gene

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

Variants for KLRC1 Gene

Sequence variations from dbSNP and Humsavar for KLRC1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2253849 - 10,451,071(+) TGGAG(C/T)TTTTA reference, missense
rs1851073 -- 10,447,990(-) TGAAT(C/G)ACAAC intron-variant
rs1967432 -- 10,452,346(-) ATTAC(A/G)TTATC intron-variant
rs1983526 -- 10,455,414(-) GCAGG(C/G)TTGTA upstream-variant-2KB
rs2253722 -- 10,451,941(+) TTTTA(A/T)TTAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv898757 CNV Gain 21882294
nsv832328 CNV Gain 17160897
nsv898763 CNV Loss 21882294
nsv8914 CNV Loss 18304495
dgv1371n71 CNV Loss 21882294
nsv606 CNV Loss 18451855
nsv898767 CNV Loss 21882294
nsv521062 CNV Gain 19592680
dgv1372n71 CNV Loss 21882294
nsv898769 CNV Gain 21882294
esv25005 CNV Loss 19812545
dgv270n67 CNV Loss 20364138
esv32543 CNV Loss 17666407
dgv190e201 CNV Deletion 23290073
dgv264e199 CNV Deletion 23128226

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)

Relevant External Links for KLRC1 Gene

HapMap Linkage Disequilibrium report
KLRC1
Human Gene Mutation Database (HGMD)
KLRC1

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

Disorders for KLRC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KLRC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
vulvar intraepithelial neoplasia
  • vulvar intraepithelial tumor
mhc class i deficiency
  • bare lymphocyte syndrome, type i
- elite association - COSMIC cancer census association via MalaCards
Search KLRC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KLRC1

Genetic Association Database (GAD)
KLRC1
Human Genome Epidemiology (HuGE) Navigator
KLRC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLRC1
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 23 67
  2. Permanent silencing of NKG2A expression for cell-based therapeutics. (PMID: 19002424) Figueiredo C. … Blasczyk R. (J. Mol. Med. 2009) 3 23
  3. CD94-NKG2A recognition of human leukocyte antigen (HLA)-E bound to an HLA class I leader sequence. (PMID: 18332182) Petrie E.J. … Rossjohn J. (J. Exp. Med. 2008) 3 23
  4. NKG2A inhibits TH2 cell effector function in vitro. (PMID: 17927829) Freishtat R.J. … Hoffman E.P. (BMC Pulm Med 2007) 3 23
  5. Increased NKG2A found in cytotoxic natural killer subset in HIV-1 patients with advanced clinical status. (PMID: 18172398) Zhang R. … Shao Y. (AIDS 2007) 3 23

Products for KLRC1 Gene

Sources for KLRC1 Gene

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