KLRB1 Gene (Protein Coding)

Killer Cell Lectin Like Receptor B1

GC12M013855
GIFtS:
41
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 characte... See more...

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
  • NKR-P1A 2 3 4
  • CLEC5B 2 3 4
  • Killer Cell Lectin-Like Receptor Subfamily B, Member 1 2 3
  • Killer Cell Lectin-Like Receptor Subfamily B Member 1 3 4
  • C-Type Lectin Domain Family 5 Member B 3 4
  • HNKR-P1A 2 3
  • NKR-P1 2 3
  • NKRP1A 3 4
  • CD161 2 3
  • CD161 Antigen 4
  • HNKR-P1a 4
  • KLRB1 5
  • 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
  • GC12M012398
  • GC12M012618
  • GC12M012775
  • GC12M013361
  • GC12M010758
  • GC12M010990
  • GC12M011288
  • GC12M011523
  • GC12M011717
  • GC12M011904
  • GC12M012090
  • GC12M012266

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 Inflammatory Bowel Disease 18 and T-Cell Prolymphocytic Leukemia. Among its related pathways are Hematopoietic Stem Cells 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 Summary 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 , Rfam classification and piRNA Summary for KLRB1 Gene

Genomics for KLRB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KLRB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLRB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLRB1

Top Transcription factor binding sites by QIAGEN in the KLRB1 gene promoter:
  • AML1a
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • POU2F1
  • POU2F1a
  • POU3F2
  • PPAR-alpha

Genomic Locations for KLRB1 Gene

Genomic Locations for KLRB1 Gene
chr12:9,594,551-9,607,916
(GRCh38/hg38)
Size:
13,366 bases
Orientation:
Minus strand
chr12:9,747,147-9,760,497
(GRCh37/hg19)
Size:
13,351 bases
Orientation:
Minus strand

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 Structure • Gene Density

RefSeq DNA sequence for KLRB1 Gene

Proteins for KLRB1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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.

    Three dimensional structures from OCA and Proteopedia for KLRB1 Gene

neXtProt entry for KLRB1 Gene

Protein Expression for KLRB1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KLRB1 Gene

Other Protein References for KLRB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for KLRB1

No data available for DME Specific Peptides for KLRB1 Gene

Domains & Families for KLRB1 Gene

Gene Families for KLRB1 Gene

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

Protein Domains for KLRB1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KLRB1 Gene

GenScript: Design optimal peptide antigens:
  • Natural killer cell surface protein P1A (KLRB1_HUMAN)
genes like me logo Genes that share domains with KLRB1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLRB1 Gene

Function for KLRB1 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for KLRB1 Gene

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.
GENATLAS Biochemistry:
natural killer cell lectin-like receptor subfamily B,member 1

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:

Animal Model Products

CRISPR Products

miRNA for KLRB1 Gene

miRTarBase miRNAs that target KLRB1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLRB1

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
nucleus 3
cytosol 3
extracellular 2
lysosome 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

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

Pathways by source for KLRB1 Gene

1 KEGG pathway for KLRB1 Gene

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

Products:

  1. Drug

(2) Drugs for KLRB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(111) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KLRB1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLRB1

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

No ASD Table

Relevant External Links for KLRB1 Gene

GeneLoc Exon Structure for
KLRB1

Expression for KLRB1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for KLRB1 Gene
mRNA expression by BioGPS for KLRB1 GenemRNA expression by GTEx 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 and MOPED for KLRB1 Gene



Protein tissue co-expression partners for KLRB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.4)
  • Spleen(3.4)
  • Lymph node(3)
  • Bone marrow(2.8)
  • Intestine(2.7)
  • Lung(2.5)
  • Liver(2.4)
  • Heart(2.4)
  • Kidney(2.4)
  • Skin(2.2)
  • Muscle(2.1)
  • Nervous system(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 30 31
  • 99.26 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KLRB1 30 31
  • 76.92 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KLRB1 30 31
  • 76.47 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Klrb1a 30
  • 67.57 (n)
Mouse
(Mus musculus)
 Mammalia Klrb1a 30 17 31
  • 66.36 (n)
 OneToMany
Klrb1 31
  • 49 (a)
 OneToMany
Klrb1f 31
  • 46 (a)
 OneToMany
Klrb1b 17 31
  • 44 (a)
 OneToMany
Klrb1c 17 31
  • 38 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 25 (a)
 OneToMany
Species where no ortholog for KLRB1 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)
  • 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 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 KLRB1 Gene

ENSEMBL:
Gene Tree for KLRB1 (if available)
TreeFam:
Gene Tree for KLRB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLRB1: view image

Paralogs for KLRB1 Gene

Paralogs for KLRB1 Gene

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

  • KLRB1_HUMAN
genes like me logo Genes that share paralogs with KLRB1: view

Variants for KLRB1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLRB1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
737845 Likely Benign: not provided 9,607,747(-) C/T INTRON_VARIANT
rs1135816 - p.Ile168Thr

Additional dbSNP identifiers (rs#s) for KLRB1 Gene

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

SNP Genotyping and Copy Number Assay Products

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
inflammatory bowel disease 18
  • ibd18
t-cell prolymphocytic leukemia
  • leukemia, t-cell, chronic
- 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
Open Targets Platform
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 23
  2. Recognition of a carbohydrate xenoepitope by human NKRP1A (CD161). (PMID: 16925668) Christiansen D … Sandrin MS (Xenotransplantation 2006) 3 4 23
  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 23
  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 23
  5. Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis. (PMID: 19834503) Hoppenbrouwers IA … Hintzen RQ (Journal of human genetics 2009) 3 41

ExternalLinks

View latest publications for KLRB1 gene in Mastermind

Products for KLRB1 Gene

  • Signalway Proteins for KLRB1

Sources for KLRB1 Gene