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Aliases for RAET1L Gene

Aliases for RAET1L Gene

  • Retinoic Acid Early Transcript 1L 2 3 5
  • Retinoic Acid Early Transcript 1L Protein 3 4
  • ULBP6 3 4
  • UL16 Binding Protein 6 3
  • UL16-Binding Protein 6 3

External Ids for RAET1L Gene

Previous GeneCards Identifiers for RAET1L Gene

  • GC06M149902
  • GC06M150236
  • GC06M150370
  • GC06M150372
  • GC06M150433
  • GC06M150339
  • GC06M147906

Summaries for RAET1L Gene

Entrez Gene Summary for RAET1L Gene

  • RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008]

GeneCards Summary for RAET1L Gene

RAET1L (Retinoic Acid Early Transcript 1L) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Immune response Role of DAP12 receptors in NK cells. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and natural killer cell lectin-like receptor binding. An important paralog of this gene is ULBP2.

UniProtKB/Swiss-Prot for RAET1L Gene

  • Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.

Additional gene information for RAET1L Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAET1L Gene

Genomics for RAET1L Gene

GeneHancer (GH) Regulatory Elements for RAET1L Gene

Promoters and enhancers for RAET1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I150025 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.8 -0.1 -63 1.3 KLF1 JUN KLF17 CC2D1A E2F1 FOSL1 CTBP1 GATA3 FOS FOSL2 RAET1L ULBP2 RAET1M
GH06I150007 Enhancer 0.8 ENCODE 5 +18.3 18306 0.2 HDGF CTCF BATF ZNF2 ZFHX2 EGR1 SCRT2 ZNF143 ATF7 PRDM10 ULBP1 RAET1L RAET1K
GH06I150250 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.2 -228.8 -228812 8 ATF1 PKNOX1 ARNT FEZF1 ZNF2 TCF12 ZNF766 ZNF213 GATA2 KLF7 ENSG00000268592 NUP43 ENSG00000216906 PPIL4 ENSG00000231760 KATNA1 LRP11 LATS1 ENSG00000238594 PPP1R14C
GH06I150014 Enhancer 0.7 Ensembl 0.4 +10.1 10126 1.2 HDAC1 MEIS2 NFRKB TAL1 FOSL1 TCF12 CC2D1A CTBP1 FOXK2 NCOR1 ULBP2 RAET1K RAET1L
GH06I150017 Enhancer 0.6 ENCODE 0.4 +8.5 8516 0.2 CTCF ZNF654 RB1 TEAD1 TRIM22 REST ZEB2 RAD21 CC2D1A ARID2 RAET1L RAET1K
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAET1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAET1L gene promoter:

Genomic Locations for RAET1L Gene

Genomic Locations for RAET1L Gene
chr6:150,018,334-150,025,596
(GRCh38/hg38)
Size:
7,263 bases
Orientation:
Minus strand
chr6:150,339,470-150,346,668
(GRCh37/hg19)

Genomic View for RAET1L Gene

Genes around RAET1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAET1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAET1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAET1L Gene

Proteins for RAET1L Gene

  • Protein details for RAET1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VY80-ULBP6_HUMAN
    Recommended name:
    UL16-binding protein 6
    Protein Accession:
    Q5VY80
    Secondary Accessions:
    • A3KME4
    • Q8TE74

    Protein attributes for RAET1L Gene

    Size:
    246 amino acids
    Molecular mass:
    27509 Da
    Quaternary structure:
    • Interacts with KLRK1/NKG2D.
    • (Microbial infection) In CMV-infected cells, interacts with the viral glycoprotein UL16; this interaction causes relocalization from the cell surface to the cytoplasm and prevents binding to and activation of KLRK1/NKG2D, providing CMV with an immune evasion mechanism.
    Miscellaneous:
    • UL16-binding proteins (ULBPs) are unusual members of the extended MHC class I superfamily. They do not contain the alpha 3 domain and lack a transmembrane domain.

    Three dimensional structures from OCA and Proteopedia for RAET1L Gene

neXtProt entry for RAET1L Gene

Post-translational modifications for RAET1L Gene

  • Glycosylation at Asn68 and isoforms=82
  • Modification sites at PhosphoSitePlus

Other Protein References for RAET1L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAET1L Gene

Domains & Families for RAET1L Gene

Gene Families for RAET1L Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for RAET1L Gene

Suggested Antigen Peptide Sequences for RAET1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VY80

UniProtKB/Swiss-Prot:

ULBP6_HUMAN :
  • Belongs to the MHC class I family.
Family:
  • Belongs to the MHC class I family.
genes like me logo Genes that share domains with RAET1L: view

Function for RAET1L Gene

Molecular function for RAET1L Gene

UniProtKB/Swiss-Prot Function:
Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.

Gene Ontology (GO) - Molecular Function for RAET1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19658097
GO:0046703 natural killer cell lectin-like receptor binding IBA --
genes like me logo Genes that share ontologies with RAET1L: view
genes like me logo Genes that share phenotypes with RAET1L: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAET1L Gene

Localization for RAET1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAET1L Gene

Cell membrane; Lipid-anchor, GPI-anchor. Endoplasmic reticulum. Note=In CMV-infected fibroblasts, detected intracellularly. {ECO:0000269 PubMed:19658097}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAET1L gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for RAET1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS,IBA --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with RAET1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAET1L Gene

Pathways & Interactions for RAET1L Gene

genes like me logo Genes that share pathways with RAET1L: view

Gene Ontology (GO) - Biological Process for RAET1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006501 C-terminal protein lipidation TAS --
GO:0016032 viral process IEA --
GO:0042267 natural killer cell mediated cytotoxicity IBA --
genes like me logo Genes that share ontologies with RAET1L: view

No data available for SIGNOR curated interactions for RAET1L Gene

Drugs & Compounds for RAET1L Gene

No Compound Related Data Available

Transcripts for RAET1L Gene

mRNA/cDNA for RAET1L Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RAET1L Gene

Retinoic acid early transcript 1L:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAET1L Gene

No ASD Table

Relevant External Links for RAET1L Gene

GeneLoc Exon Structure for
RAET1L
ECgene alternative splicing isoforms for
RAET1L

Expression for RAET1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAET1L Gene

mRNA differential expression in normal tissues according to GTEx for RAET1L Gene

This gene is overexpressed in Esophagus - Mucosa (x30.0), Vagina (x8.3), Minor Salivary Gland (x5.0), and Cervix - Ectocervix (x4.1).

Protein differential expression in normal tissues from HIPED for RAET1L Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RAET1L Gene



Protein tissue co-expression partners for RAET1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAET1L Gene:

RAET1L

SOURCE GeneReport for Unigene cluster for RAET1L Gene:

Hs.558659

mRNA Expression by UniProt/SwissProt for RAET1L Gene:

Q5VY80-ULBP6_HUMAN
Tissue specificity: Widely expressed (PubMed:11827464). Expressed in trachea (PubMed:19658097). Constitutively expressed in peripheral blood mononuclear cells, including B-cells and natural killer cells, as well as CD4+ and CD8+ T-cells and monocytes. Tends to be up-regulated in various lymphoid malignancies, including chronic lymphocytic leukemia (PubMed:28559451).
genes like me logo Genes that share expression patterns with RAET1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAET1L Gene

Orthologs for RAET1L Gene

This gene was present in the common ancestor of mammals.

Orthologs for RAET1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAET1L 33
  • 96.9 (n)
-- 34
  • 94 (a)
ManyToMany
-- 34
  • 91 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 52 (a)
ManyToMany
-- 34
  • 42 (a)
ManyToMany
-- 34
  • 41 (a)
ManyToMany
-- 34
  • 41 (a)
ManyToMany
ULBP27 34
  • 40 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
ULBP3 34
  • 33 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 31 (a)
OneToMany
Species where no ortholog for RAET1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for RAET1L Gene

ENSEMBL:
Gene Tree for RAET1L (if available)
TreeFam:
Gene Tree for RAET1L (if available)

Paralogs for RAET1L Gene

Paralogs for RAET1L Gene

Pseudogenes.org Pseudogenes for RAET1L Gene

genes like me logo Genes that share paralogs with RAET1L: view

Variants for RAET1L Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RAET1L Gene

ULBP6_HUMAN-Q5VY80
4 alleles have been identified in 32 Caucasian individuals: ULBP6*01 (frequency 0.483), ULBP6*02 (frequency 0.424), ULBP6*03 (frequency 0.069) and ULBP6*04 (frequency 0.024). The sequence shown is that of ULBP6*03 (PubMed:19658097). Allele ULBP6*02 has a much higher affinity for KLRK1/NKG2D than allele ULBP6*01, but elicits less-efficient cytotoxicity. This high binding affinity and limited functional potency may depend upon the presence of the Leu residue at position 106 (PubMed:28559451).

Sequence variations from dbSNP and Humsavar for RAET1L Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000955922 -- 150,024,586(-) T/G intron_variant
rs1001053898 -- 150,018,373(-) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001111754 -- 150,018,540(-) A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001237655 -- 150,024,191(-) G/T intron_variant
rs1001295515 -- 150,027,020(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RAET1L Gene

Variant ID Type Subtype PubMed ID
esv2678333 CNV deletion 23128226
esv2732866 CNV deletion 23290073
esv2732878 CNV deletion 23290073
esv2732879 CNV deletion 23290073
esv3890963 CNV loss 25118596
esv7375 CNV loss 19470904
nsv464077 CNV loss 19166990
nsv517022 CNV gain+loss 19592680
nsv5535 CNV deletion 18451855
nsv604847 CNV loss 21841781
nsv970176 CNV duplication 23825009

Variation tolerance for RAET1L Gene

Residual Variation Intolerance Score: 96.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.60; 82.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAET1L Gene

Human Gene Mutation Database (HGMD)
RAET1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAET1L

Disorders for RAET1L Gene

Additional Disease Information for RAET1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RAET1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAET1L Gene

Publications for RAET1L Gene

  1. A cluster of ten novel MHC class I related genes on human chromosome 6q24.2-q25.3. (PMID: 11827464) Radosavljevic M … Bahram S (Genomics 2002) 2 3 4 58
  2. A disease-linked ULBP6 polymorphism inhibits NKG2D-mediated target cell killing by enhancing the stability of NKG2D ligand binding. (PMID: 28559451) Zuo J … Moss P (Science signaling 2017) 3 4 58
  3. Single nucleotide polymorphism analysis of the NKG2D ligand cluster on the long arm of chromosome 6: Extensive polymorphisms and evidence of diversity between human populations. (PMID: 20219610) Antoun A … Briggs DC (Human immunology 2010) 3 44 58
  4. ULBP6/RAET1L is an additional human NKG2D ligand. (PMID: 19658097) Eagle RA … Trowsdale J (European journal of immunology 2009) 3 4 58
  5. Polymorphisms of NKG2D ligands: diverse RAET1/ULBP genes in northeastern Thais. (PMID: 19688209) Romphruk AV … Leelayuwat C (Immunogenetics 2009) 3 44 58

Products for RAET1L Gene

Sources for RAET1L Gene

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