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

Summary

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

Location:: 12p13.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (10372353..10410146, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (10259174..10296963, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (10524952..10562745, 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
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?

Submit: New GeneRIF Correction

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 Beh&#x000e7;et's disease and epistasis between HLA-B*51 and ERAP1. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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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)

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