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KLRC4-KLRK1 KLRC4-KLRK1 readthrough [ Homo sapiens (human) ]

Gene ID: 100528032, updated on 8-Mar-2024

Summary

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Official Symbol
KLRC4-KLRK1provided by HGNC
Official Full Name
KLRC4-KLRK1 readthroughprovided by HGNC
Primary source
HGNC:HGNC:48357
See related
AllianceGenome:HGNC:48357
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
Summary
This locus represents naturally occurring read-through transcription between the neighboring KLRC4 (killer cell lectin-like receptor subfamily C, member 4) and KLRK1 (killer cell lectin-like receptor subfamily K, member 1) genes on chromosome 12. The read-through transcript includes an alternate 5' exon and lacks a significant portion of the KLRC4 coding sequence, including the start codon, and it thus encodes the KLRK1 protein. [provided by RefSeq, Dec 2010]
Expression
Broad expression in spleen (RPKM 24.6), lymph node (RPKM 18.8) and 16 other tissues See more
Orthologs
all
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Genomic context

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See KLRC4-KLRK1 in Genome Data Viewer
Location:
12p13.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10372353..10410146, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10259174..10296963, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10524952..10562745, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2617 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:10490627-10491205 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:10491206-10491785 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:10513466-10514066 Neighboring gene long intergenic non-protein coding RNA 2598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5961 Neighboring gene KLRK1 antisense RNA 1 Neighboring gene MPRA-validated peak1570 silencer Neighboring gene killer cell lectin like receptor K1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:10548157-10548798 Neighboring gene killer cell lectin like receptor C4 Neighboring gene killer cell lectin like receptor C3 Neighboring gene killer cell lectin like receptor C2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Interferon-producing killer dendritic cells provide a link between innate and adaptive immunity. Chan CW, et al. Nat Med, 2006 Feb. PMID 16444266
  2. Symmetry recognizing asymmetry: analysis of the interactions between the C-type lectin-like immunoreceptor NKG2D and MHC class I-like ligands. McFarland BJ, et al. Structure, 2003 Apr. PMID 12679019
  3. Linkage of the NKG2 and CD94 receptor genes to D12S77 in the human natural killer gene complex. Sobanov Y, et al. Immunogenetics, 1999 Feb. PMID 9887346
  4. The NKG2D ligand ULBP4 binds to TCRgamma9/delta2 and induces cytotoxicity to tumor cells through both TCRgammadelta and NKG2D. Kong Y, et al. Blood, 2009 Jul 9. PMID 19436053
  5. Lymphocyte activation via NKG2D: towards a new paradigm in immune recognition? Vivier E, et al. Curr Opin Immunol, 2002 Jun. PMID 11973127

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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General gene information

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Markers

Homology

Clone Names

  • FLJ17759, FLJ78582

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables MHC class I protein binding IEA
Inferred from Electronic Annotation
more info
  
enables MHC class Ib receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein 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 signaling receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in T cell costimulation TAS
Traceable Author Statement
more info
 PubMed 
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
  
involved_in defense response to Gram-positive bacterium IEA
Inferred from Electronic Annotation
more info
  
involved_in natural killer cell activation TAS
Traceable Author Statement
more info
 PubMed 
involved_in natural killer cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of natural killer cell chemotaxis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nitric oxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of natural killer cell mediated cytotoxicity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of natural killer cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of nitric oxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of type II interferon production IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in stimulatory C-type lectin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
NKG2-D type II integral membrane protein
Names
NK cell receptor D
NKG2-D-activating NK receptor
killer cell lectin-like receptor subfamily K member 1

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)

  1. NM_001199805.1 → NP_001186734.1  NKG2-D type II integral membrane protein

    See identical proteins and their annotated locations for NP_001186734.1

    Status: VALIDATED

    Source sequence(s)
    AC022075, AF461811
    UniProtKB/Swiss-Prot
    A8K7K5, A8K7P4, P26718, Q9NR41
    Conserved Domains (2) summary
    cd03593
    Location:99 → 213
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
    PHA03097
    Location:47 → 214
    PHA03097; C-type lectin-like protein; Provisional

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
    10372353..10410146 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    10259174..10296963 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P26718.2 GenPept UniProtKB/Swiss-Prot:P26718

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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