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Aliases for KLRB1 Gene

Aliases for KLRB1 Gene

  • Killer Cell Lectin Like Receptor B1 2 3 5
  • Natural Killer Cell Surface Protein P1A 2 3 4
  • Killer Cell Lectin-Like Receptor Subfamily B, Member 1 2 3
  • C-Type Lectin Domain Family 5 Member B 3 4
  • HNKR-P1A 3 4
  • NKR-P1A 3 4
  • CLEC5B 3 4
  • NKRP1A 3 4
  • Killer Cell Lectin-Like Receptor Subfamily B Member 1 3
  • CD161 Antigen 4
  • NKR-P1 3
  • CD161 3
  • NKR 3

External Ids for KLRB1 Gene

Previous HGNC Symbols for KLRB1 Gene

  • NKR

Previous GeneCards Identifiers for KLRB1 Gene

  • GC12M009430
  • GC12M009870
  • GC12M009647
  • GC12M009638
  • GC12M009490
  • GC12M009748
  • GC12M009837
  • GC12M010061
  • GC12M010255
  • GC12M010497
  • GC12M009809
  • GC12M010163
  • GC12M010758
  • GC12M010990
  • GC12M011288
  • GC12M011523
  • GC12M011717

Summaries for KLRB1 Gene

Entrez Gene Summary for KLRB1 Gene

  • Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]

GeneCards Summary for KLRB1 Gene

KLRB1 (Killer Cell Lectin Like Receptor B1) is a Protein Coding gene. Diseases associated with KLRB1 include Cytomegalovirus Infection and Inflammatory Bowel Disease 6. 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 carbohydrate binding. An important paralog of this gene is KLRF1.

UniProtKB/Swiss-Prot for KLRB1 Gene

  • Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N-acetyllactosamine epitope. Binds also to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediated cytotoxicity as well as interferon-gamma secretion in target cells.

Gene Wiki entry for KLRB1 Gene

Additional gene information for KLRB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLRB1 Gene

Genomics for KLRB1 Gene

GeneHancer (GH) Regulatory Elements for KLRB1 Gene

Promoters and enhancers for KLRB1 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
GH12I009605 Promoter/Enhancer 1 EPDnew FANTOM5 ENCODE 552.5 +1.0 1001 3.2 ZNF512 KLRB1 CLEC2D ENSG00000214776 LOC642846 KLRF2 DDX12P LOC374443 LINC02367 KLRF1 PIR60914
GH12I009646 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 17.8 -43.8 -43832 10 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 IRF4 SLC30A9 ZNF207 ZNF143 LOC105369728 CLEC2D LOC374443 DDX12P KLRB1 CLECL1 CLEC7A M6PR CLEC12A LOC642846
GH12I009720 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.4 -119.3 -119311 13.1 PKNOX1 FOXA2 IRF4 ATF7 FOS RUNX3 JUNB REST SMARCA4 NBN CLECL1 KLRB1 ENSG00000213443 ENSG00000257027 OLR1 CLEC12A CD69 CLEC7A LINC02367 LOC374443
GH12I009739 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.4 -133.5 -133521 4.8 PKNOX1 RB1 BMI1 BATF KLF5 IRF4 RAD21 CHAMP1 POLR2B EGR1 CLEC7A CLEC2D KLRB1 CLECL1 ENSG00000214776 CD69 ENSG00000213443 CLEC2B KLRF1 GC12P009745
GH12I009756 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.8 -153.4 -153378 10 HDGF PKNOX1 ATF1 SMAD1 ARNT IRF4 TCF12 POLR2B GATA2 ATF7 CD69 CLECL1 KLRF1 CLEC7A OLR1 KLRB1 CLEC12A ENSG00000213443 DDX12P PZP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLRB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLRB1 gene promoter:

Genomic Locations for KLRB1 Gene

Genomic Locations for KLRB1 Gene
chr12:9,594,551-9,607,901
(GRCh38/hg38)
Size:
13,351 bases
Orientation:
Minus strand
chr12:9,747,147-9,760,497
(GRCh37/hg19)

Genomic View for KLRB1 Gene

Genes around KLRB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLRB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLRB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLRB1 Gene

Proteins for KLRB1 Gene

  • Protein details for KLRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12918-KLRB1_HUMAN
    Recommended name:
    Killer cell lectin-like receptor subfamily B member 1
    Protein Accession:
    Q12918
    Secondary Accessions:
    • Q24K24

    Protein attributes for KLRB1 Gene

    Size:
    225 amino acids
    Molecular mass:
    25415 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with acid sphingomyelinase/SMPD1.

neXtProt entry for KLRB1 Gene

Post-translational modifications for KLRB1 Gene

Other Protein References for KLRB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLRB1 Gene

Domains & Families for KLRB1 Gene

Gene Families for KLRB1 Gene

Protein Domains for KLRB1 Gene

Suggested Antigen Peptide Sequences for KLRB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLRB1: view

No data available for UniProtKB/Swiss-Prot for KLRB1 Gene

Function for KLRB1 Gene

Molecular function for KLRB1 Gene

GENATLAS Biochemistry:
natural killer cell lectin-like receptor subfamily B,member 1
UniProtKB/Swiss-Prot Function:
Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N-acetyllactosamine epitope. Binds also to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediated cytotoxicity as well as interferon-gamma secretion in target cells.
UniProtKB/Swiss-Prot Induction:
By IL12/interleukin-12 in NK cells.

Phenotypes From GWAS Catalog for KLRB1 Gene

Gene Ontology (GO) - Molecular Function for KLRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 8077657
GO:0005515 protein binding IPI 21572041
GO:0030246 carbohydrate binding TAS,IEA --
genes like me logo Genes that share ontologies with KLRB1: view
genes like me logo Genes that share phenotypes with KLRB1: view

Animal Models for KLRB1 Gene

MGI Knock Outs for KLRB1:

miRNA for KLRB1 Gene

miRTarBase miRNAs that target KLRB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLRB1 Gene

Localization for KLRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLRB1 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 KLRB1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KLRB1: view

Pathways & Interactions for KLRB1 Gene

genes like me logo Genes that share pathways with KLRB1: view

Gene Ontology (GO) - Biological Process for KLRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway TAS 8077657
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with KLRB1: view

No data available for SIGNOR curated interactions for KLRB1 Gene

Drugs & Compounds for KLRB1 Gene

(2) Drugs for KLRB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(83) Additional Compounds for KLRB1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
genes like me logo Genes that share compounds with KLRB1: view

Transcripts for KLRB1 Gene

mRNA/cDNA for KLRB1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(32) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLRB1 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLRB1 Gene

No ASD Table

Relevant External Links for KLRB1 Gene

GeneLoc Exon Structure for
KLRB1
ECgene alternative splicing isoforms for
KLRB1

Expression for KLRB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLRB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLRB1 Gene

This gene is overexpressed in Whole Blood (x23.4), Spleen (x8.3), and Small Intestine - Terminal Ileum (x4.0).

Protein differential expression in normal tissues from HIPED for KLRB1 Gene

This gene is overexpressed in NK cells (47.2) and Spleen (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLRB1 Gene



Protein tissue co-expression partners for KLRB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLRB1 Gene:

KLRB1

SOURCE GeneReport for Unigene cluster for KLRB1 Gene:

Hs.169824

mRNA Expression by UniProt/SwissProt for KLRB1 Gene:

Q12918-KLRB1_HUMAN
Tissue specificity: Expressed in a subset of NK cells predominantly in intestinal epithelium and liver. Detected in peripheral blood T-cells and preferentially in adult T-cells with a memory antigenic phenotype.

Evidence on tissue expression from TISSUES for KLRB1 Gene

  • Blood(3.2)
  • Spleen(2.9)
  • Lymph node(2.3)
  • Bone marrow(2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with KLRB1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KLRB1 Gene

Orthologs for KLRB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLRB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLRB1 33 34
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia KLRB1 33 34
  • 76.92 (n)
cow
(Bos Taurus)
Mammalia KLRB1 33 34
  • 76.47 (n)
rat
(Rattus norvegicus)
Mammalia Klrb1a 33
  • 67.57 (n)
mouse
(Mus musculus)
Mammalia Klrb1a 33 34
  • 66.36 (n)
Klrb1 34
  • 49 (a)
OneToMany
Klrb1f 34
  • 46 (a)
OneToMany
Klrb1b 34
  • 44 (a)
OneToMany
Klrb1c 16 34
  • 38 (a)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 26 (a)
OneToMany
-- 34
  • 26 (a)
OneToMany
-- 34
  • 25 (a)
OneToMany
Species where no ortholog for KLRB1 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 KLRB1 Gene

ENSEMBL:
Gene Tree for KLRB1 (if available)
TreeFam:
Gene Tree for KLRB1 (if available)

Paralogs for KLRB1 Gene

Paralogs for KLRB1 Gene

(1) SIMAP similar genes for KLRB1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KLRB1: view

Variants for KLRB1 Gene

Sequence variations from dbSNP and Humsavar for KLRB1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000173054 -- 9,601,146(-) A/C intron_variant
rs1000207497 -- 9,596,111(-) A/G intron_variant
rs1000305114 -- 9,609,239(-) G/C upstream_transcript_variant
rs1000414141 -- 9,603,714(-) A/G intron_variant
rs1000509580 -- 9,606,079(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KLRB1 Gene

Variant ID Type Subtype PubMed ID
esv2759878 CNV gain+loss 17122850
esv3303085 CNV tandem duplication 20981092
esv3628509 CNV loss 21293372
esv3628510 CNV loss 21293372
esv3628511 CNV gain 21293372
nsv1051530 CNV gain 25217958
nsv428271 CNV gain 18775914
nsv602 CNV deletion 18451855
nsv603 CNV insertion 18451855
nsv8909 CNV gain 18304495

Variation tolerance for KLRB1 Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.01; 94.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLRB1 Gene

Human Gene Mutation Database (HGMD)
KLRB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLRB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLRB1 Gene

Disorders for KLRB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KLRB1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cytomegalovirus infection
  • cytomegalovirus infections
inflammatory bowel disease 6
  • ibd6
- elite association - COSMIC cancer census association via MalaCards
Search KLRB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLRB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KLRB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLRB1 Gene

Publications for KLRB1 Gene

  1. Human NKR-P1A. A disulfide-linked homodimer of the C-type lectin superfamily expressed by a subset of NK and T lymphocytes. (PMID: 8077657) Lanier LL … Phillips JH (Journal of immunology (Baltimore, Md. : 1950) 1994) 2 3 4 22 58
  2. Recognition of a carbohydrate xenoepitope by human NKRP1A (CD161). (PMID: 16925668) Christiansen D … Sandrin MS (Xenotransplantation 2006) 3 4 22 58
  3. Cutting edge: lectin-like transcript 1 is a ligand for the CD161 receptor. (PMID: 16339512) Aldemir H … Braud VM (Journal of immunology (Baltimore, Md. : 1950) 2005) 3 4 22 58
  4. IL-12-induced up-regulation of NKRP1A expression in human NK cells and consequent NKRP1A-mediated down-regulation of NK cell activation. (PMID: 9603467) Poggi A … Moretta L (European journal of immunology 1998) 3 4 22 58
  5. Risk alleles for multiple sclerosis in multiplex families. (PMID: 19506219) D'Netto MJ … Ebers GC (Neurology 2009) 3 44 58

Products for KLRB1 Gene

Sources for KLRB1 Gene

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