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

    Gene ID: 3820, updated on 9-Dec-2024

    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
    NEW
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    Genomic context

    See KLRB1 in Genome Data Viewer
    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_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902873 Neighboring gene DEAD/H-box helicase 12, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:9590133-9590632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4227 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:9600631-9600851 Neighboring gene alpha-2-macroglobulin like 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4228 Neighboring gene RAN binding protein 6 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:9721455-9722278 Neighboring gene C-type lectin domain family 2 member D pseudogene Neighboring gene RNA, U6 small nuclear 700, pseudogene Neighboring gene GOT2 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138614

    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

    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)

    NEW Try the new Transcript table

    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)

    1. NM_002258.3NP_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:94212
      CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      9594551..9607916 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      9480754..9494170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)