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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
  • 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/NKG2-B Type II Integral Membrane Protein 3
  • 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
  • GC12M010783
  • GC12M011020

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 Bare Lymphocyte Syndrome, Type I and Vulvar Intraepithelial Neoplasia. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Immune response_Role of integrins in NK cells cytotoxicity. 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.

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

Enhancers for KLRC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F010557 1.2 FANTOM5 Ensembl ENCODE 17 -103.8 -103837 2.9 TBL1XR1 MTA2 CBX5 ZBED1 JUNB EBF1 RELA KLRK1 KLRC4 KLRC1 KLRD1 KLRC4-KLRK1 KLRA1P LOC101060038 KLRC3 KLRC2 LOC105376675
GH12F010391 1.6 FANTOM5 Ensembl ENCODE 10.4 +59.9 59902 7.4 ARID4B FEZF1 CBX5 DEK JUNB TSHZ1 TBX21 KAT8 ETV4 RCOR2 KLRK1 KLRC3 KLRC4 KLRC2 LOC101928100 KLRC1 KLRD1 KLRC4-KLRK1
GH12F010553 1.2 FANTOM5 Ensembl ENCODE 13.2 -100.2 -100165 2.5 SMAD5 CBX5 ZBED1 EED CBFB KLRK1 KLRC4 KLRC1 KLRD1 LOC101060038 KLRA1P KLRC4-KLRK1 KLRC3 KLRC2 LOC105376675
GH12F010384 1.4 FANTOM5 Ensembl ENCODE 10.3 +67.2 67247 5.1 TBP PKNOX1 FEZF1 BMI1 ZEB1 GTF3C2 CBX5 ETV6 FOS CREM KLRA1P MAGOHB TAS2R43 KLRC3 DDX12P TAS2R14 LOC101928100 KLRC4 TAS2R20 KLRC4-KLRK1
GH12F010360 1.4 FANTOM5 ENCODE 10 +90.4 90446 7.3 HDGF PKNOX1 ARNT ARID4B FEZF1 ZNF2 CBX5 ZNF143 ZNF263 SP3 LOC101928100 KLRK1 DDX12P ENSG00000213443 KLRA1P LOC255308 ENSG00000257027 ENSG00000256682 ENSG00000255958 GABARAPL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLRC1 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for KLRC1 Gene

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

No data available for DME Specific Peptides for KLRC1 Gene

Domains & 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:0004888 transmembrane signaling receptor activity TAS 2007850
GO:0005515 protein binding IPI 18448674
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:

Animal Model Products

miRNA for KLRC1 Gene

Inhibitory RNA Products

Flow Cytometry Products

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
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 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

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 2007850
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

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:0007166 cell surface receptor signaling pathway TAS 2007850
GO:0050776 regulation of immune response TAS --
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 Pharma 478
Certolizumab pegol Approved Pharma 122
Etanercept Approved, Investigational Pharma 397
Infliximab Approved Pharma 378
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1518

(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:

Inhibitory RNA Products

Flow Cytometry Products

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 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, PaxDb, and MOPED for KLRC1 Gene



Protein tissue co-expression partners for KLRC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLRC1 Gene:

KLRC1

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

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 34 35
  • 98.86 (n)
cow
(Bos Taurus)
Mammalia KLRC1 34
  • 70.83 (n)
NKG2C 35
  • 47 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Klrc1 34 16 35
  • 65.95 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910089 34
  • 64.33 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 27 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 27 (a)
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)

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
rs10909609 -- 10,442,249(+) GGTCC(A/C)AGATC downstream-variant-500B
rs11053801 -- 10,443,518(+) AATGC(G/T)ACAAG intron-variant
rs11053802 -- 10,444,608(+) CCAAA(C/T)GCAGT intron-variant
rs11053803 -- 10,447,063(+) GTAAG(C/T)GTGGC intron-variant
rs11053804 -- 10,447,683(+) CATTA(C/T)AAAAA intron-variant

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)

Relevant External Links for KLRC1 Gene

Human Gene Mutation Database (HGMD)
KLRC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
bare lymphocyte syndrome, type i
  • bare lymphocyte syndrome, type i, due to tap2 deficiency
vulvar intraepithelial neoplasia
  • vulvar intraepithelial tumor
- 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 22 64
  2. 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 4 22 64
  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 Immun. 2003) 3 22 46 64
  4. Genomic structure, chromosome location, and alternative splicing of the human NKG2A gene. (PMID: 8753859) Plougastel B. … Trowsdale J. (Immunogenetics 1996) 3 4 22 64
  5. 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 J.P. … Bach F.H. (J. Exp. Med. 1991) 3 4 22 64

Products for KLRC1 Gene

Sources for KLRC1 Gene

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