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    KLRF1 killer cell lectin like receptor F1 [ Homo sapiens (human) ]

    Gene ID: 51348, updated on 3-May-2024

    Summary

    Official Symbol
    KLRF1provided by HGNC
    Official Full Name
    killer cell lectin like receptor F1provided by HGNC
    Primary source
    HGNC:HGNC:13342
    See related
    Ensembl:ENSG00000150045 MIM:605029; AllianceGenome:HGNC:13342
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NKp80; CLEC5C
    Summary
    KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]
    Expression
    Biased expression in spleen (RPKM 7.2), bone marrow (RPKM 3.9) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KLRF1 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (9800052..9845005)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (9686250..9731208)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (9952648..9997604)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4233 Neighboring gene C-type lectin like 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4234 Neighboring gene CRISPRi-validated cis-regulatory element chr12.520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5954 Neighboring gene Sharpr-MPRA regulatory region 11505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5956 Neighboring gene CRISPRi-validated cis-regulatory element chr12.528 Neighboring gene CD69 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5957 Neighboring gene GCNA pseudogene 1 Neighboring gene C-type lectin domain family 2 member B Neighboring gene C-type lectin domain family 2 member A Neighboring gene killer cell lectin like receptor F2

    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

    • MGC119907, MGC119908, MGC119909

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MHC class I receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in NK T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    killer cell lectin-like receptor subfamily F member 1
    Names
    C-type lectin domain family 5 member C
    activating coreceptor NKp80
    killer cell lectin-like receptor subfamily F, member 1
    lectin-like receptor F1

    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_001291822.2NP_001278751.1  killer cell lectin-like receptor subfamily F member 1 isoform KLRF1-s

      See identical proteins and their annotated locations for NP_001278751.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (KLRF1-s) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (KLRF1-s) that is shorter than isoform 1.
      Source sequence(s)
      AF175207, AJ305370
      Consensus CDS
      CCDS76526.1
      UniProtKB/Swiss-Prot
      Q9NZS2
      UniProtKB/TrEMBL
      A0A0C4DFN7
      Related
      ENSP00000279545.4, ENST00000279545.7
      Conserved Domains (2) summary
      cd03593
      Location:64180
      CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
      PHA03097
      Location:28179
      PHA03097; C-type lectin-like protein; Provisional
    2. NM_001291823.2NP_001278752.1  killer cell lectin-like receptor subfamily F member 1 isoform KLRF1-s3

      See identical proteins and their annotated locations for NP_001278752.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (KLRF1-s3) lacks three alternate coding exons that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (KLRF1-s3) has a distinct C-terminus and is significantly shorter than isoform 1.
      Source sequence(s)
      AF267245, AJ305370
      Consensus CDS
      CCDS76527.1
      UniProtKB/Swiss-Prot
      Q9NZS2
      Related
      ENSP00000346919.3, ENST00000354855.7
    3. NM_001366534.1NP_001353463.1  killer cell lectin-like receptor subfamily F member 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC007068, BC096734
      Consensus CDS
      CCDS91652.1
      UniProtKB/TrEMBL
      Q4KN05, Q4KN30
      Related
      ENSP00000443054.1, ENST00000537723.5
    4. NM_016523.3NP_057607.1  killer cell lectin-like receptor subfamily F member 1 isoform 1

      See identical proteins and their annotated locations for NP_057607.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF175206, AJ305370
      Consensus CDS
      CCDS41750.1
      UniProtKB/Swiss-Prot
      A0A0C4DGY9, Q4KMT5, Q96PR2, Q96PR3, Q9NZS1, Q9NZS2
      Related
      ENSP00000483713.1, ENST00000617889.5
      Conserved Domains (1) summary
      cd03593
      Location:114230
      CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

    RNA

    1. NR_120305.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (KLRF1-s2) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF267244, AJ305370
      Related
      ENST00000612321.4
    2. NR_159359.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007068, KF573680
    3. NR_159360.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007068, BC098257
      Related
      ENST00000617793.4
    4. NR_159361.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007068, BC098166

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      9800052..9845005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019415.2XP_016874904.1  killer cell lectin-like receptor subfamily F member 1 isoform X1

    2. XM_047428956.1XP_047284912.1  killer cell lectin-like receptor subfamily F member 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      9686250..9731208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372198.1XP_054228173.1  killer cell lectin-like receptor subfamily F member 1 isoform X1

    2. XM_054372199.1XP_054228174.1  killer cell lectin-like receptor subfamily F member 1 isoform X2