KLRB1 killer cell lectin like receptor B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLRB1provided by HGNC
Official Full Name: killer cell lectin like receptor B1provided by HGNC
Primary source: HGNC:HGNC:6373
See related: Ensembl:ENSG00000111796 MIM:602890; AllianceGenome:HGNC:6373
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NKR; CD161; CLEC5B; NKR-P1; NKRP1A; NKR-P1A; hNKR-P1A
Summary: 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]
Expression: Broad expression in bone marrow (RPKM 31.5), spleen (RPKM 28.1) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (9594551..9607916, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (9480754..9494170, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (9747147..9760512, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deciphering the role of KLRB1: a novel prognostic indicator in hepatocellular carcinoma.
Title: Deciphering the role of KLRB1: a novel prognostic indicator in hepatocellular carcinoma.
KLRB1 defines an activated phenotype of CD4+ T cells and shows significant upregulation in patients with primary Sjogren's syndrome.
Title: KLRB1 defines an activated phenotype of CD4+ T cells and shows significant upregulation in patients with primary Sjögren's syndrome.
Down-regulation of KLRB1 is associated with increased cell growth, metastasis, poor prognosis, as well as a dysfunctional immune microenvironment in LUAD.
Title: Down-regulation of KLRB1 is associated with increased cell growth, metastasis, poor prognosis, as well as a dysfunctional immune microenvironment in LUAD.
A comprehensive analysis of the KLRB1 expression and its clinical implication in testicular germ cell tumors: A review.
Title: A comprehensive analysis of the KLRB1 expression and its clinical implication in testicular germ cell tumors: A review.
Immune checkpoint CD161/LLT1-associated immunological landscape and diagnostic value in oral squamous cell carcinoma.
Title: Immune checkpoint CD161/LLT1-associated immunological landscape and diagnostic value in oral squamous cell carcinoma.
Inhibiting KLRB1 expression is associated with impairing cancer immunity and leading to cancer progression and poor prognosis in breast invasive carcinoma patients.
Title: Inhibiting KLRB1 expression is associated with impairing cancer immunity and leading to cancer progression and poor prognosis in breast invasive carcinoma patients.
Eosinophilic allergic rhinitis is strongly associated with the CD45RB[lo] subset of CD161[+] Th2 cells that secretes IL-2, IL-3, IL-4, IL-5, IL-9, and IL-13.
Title: Eosinophilic allergic rhinitis is strongly associated with the CD45RB(lo) subset of CD161(+) Th2 cells that secretes IL-2, IL-3, IL-4, IL-5, IL-9, and IL-13.
SARS-CoV-2 infection impairs NK cell functions via activation of the LLT1-CD161 axis.
Title: SARS-CoV-2 infection impairs NK cell functions via activation of the LLT1-CD161 axis.
CD161 Characterizes an Inflamed Subset of Cytotoxic T Lymphocytes Associated with Prolonged Survival in Human Papillomavirus-Driven Oropharyngeal Cancer.
Title: CD161 Characterizes an Inflamed Subset of Cytotoxic T Lymphocytes Associated with Prolonged Survival in Human Papillomavirus-Driven Oropharyngeal Cancer.
Immunobiology and conflicting roles of the human CD161 receptor in T cells.
Title: Immunobiology and conflicting roles of the human CD161 receptor in T cells.

Submit: New GeneRIF Correction See all GeneRIFs (65)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14040 (e-PCR)
- UniSTS:77547

NoName (e-PCR)
- UniSTS:489719

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in regulation of natural killer cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: killer cell lectin-like receptor subfamily B member 1

Names: C-type lectin domain family 5 member B; killer cell lectin-like receptor subfamily B, member 1; natural killer cell surface protein P1A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002258.3 → NP_002249.1 killer cell lectin-like receptor subfamily B member 1

See identical proteins and their annotated locations for NP_002249.1

Status: REVIEWED

Source sequence(s)

AC006432, BF432813, U11276

Consensus CDS

CCDS8601.1

UniProtKB/Swiss-Prot

Q12918, Q24K24

UniProtKB/TrEMBL

A8K7K7

Related

ENSP00000229402.3, ENST00000229402.4

Conserved Domains (1) summary

cd03593
Location:94 → 212

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)