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... See more...

Aliases for RAET1L Gene

Aliases for RAET1L Gene

  • Retinoic Acid Early Transcript 1L 2 3 5
  • Retinoic Acid Early Transcript 1L Protein 3 4
  • UL16-Binding Protein 6 3 4
  • ULBP6 3 4
  • UL16 Binding Protein 6 3
  • RAET1L 5

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. Diseases associated with RAET1L include Diffuse Alopecia Areata and Alopecia Universalis Congenita. Among its related pathways are Post-translational modification- synthesis of GPI-anchored 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 Summary for RAET1L Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAET1L Gene

Genomics for RAET1L Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH06J150025 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 250.7 -0.1 -127 1.3 ZNF217 EP300 CTBP1 TBP JUND KLF1 ATF3 FOS CC2D1A ZBTB5 RAET1L ULBP2 lnc-ULBP1-2 HSALNG0054292-001 ULBP3
GH06J150007 Enhancer 0.7 ENCODE 5 +18.2 18242 0.2 ZNF654 BCL11A TRIM22 ZNF341 CTCF CBFB RAD21 ZNF2 ZNF189 BATF ULBP1 RAET1L RAET1K HSALNG0054292-001
GH06J150047 Enhancer 0.5 Ensembl 4.9 -21.7 -21669 0.4 CTBP1 DPF2 ZSCAN4 FOS ZNF579 RCOR1 ZNF335 NR2F1 HSALNG0054292-002 ULBP3 RAET1L piR-61810-013 HSALNG0054292-001
GH06J150250 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.2 -228.7 -228671 8.4 NCOR1 IKZF1 ZNF600 ZNF580 ZNF592 ZSCAN16 NFIC ZIC2 CEBPB FEZF1 HSALNG0054306 PPP1R14C NUP43 PPIL4 ENSG00000231760 KATNA1 LATS1 ENSG00000238594 RAET1G ULBP2
GH06J150004 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 0.4 +20.4 20426 1.8 IKZF1 ZNF600 ZNF10 NFIC POLR2A ZIC2 ZBTB10 YY1 NONO REST RAET1K lnc-RAET1L-2 LATS1 PPIL4 ENSG00000233330 RPS18P9 ULBP1 NUP43 KATNA1 GINM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAET1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAET1L

Top Transcription factor binding sites by QIAGEN in the RAET1L gene promoter:
  • AML1a
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • Elk-1
  • NF-Y
  • NF-YA
  • NF-YB
  • Nkx5-1

Genomic Locations for RAET1L Gene

Latest Assembly
chr6:150,018,334-150,025,532
(GRCh38/hg38)
Size:
7,199 bases
Orientation:
Minus strand

Previous Assembly
chr6:150,339,470-150,346,668
(GRCh37/hg19 by Entrez Gene)
Size:
7,199 bases
Orientation:
Minus strand

chr6:150,339,470-150,346,668
(GRCh37/hg19 by Ensembl)
Size:
7,199 bases
Orientation:
Minus strand

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 Asn82
  • 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:
  • Retinoic acid early transcript 1L protein (RET1L_HUMAN)

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.

Phenotypes From GWAS Catalog for RAET1L Gene

Gene Ontology (GO) - Molecular Function for RAET1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19658097
genes like me logo Genes that share ontologies with RAET1L: view
genes like me logo Genes that share phenotypes with RAET1L: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAET1L

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 5
extracellular 4
endoplasmic reticulum 3
nucleus 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for RAET1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
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:0002376 immune system process IEA --
GO:0006955 immune response IBA 21873635
GO:0016032 viral process IEA --
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

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAET1L

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

No ASD Table

Relevant External Links for RAET1L Gene

GeneLoc Exon Structure for
RAET1L

Expression for RAET1L Gene

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



Protein tissue co-expression partners for RAET1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

Primer products for research

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 29
  • 96.9 (n)
-- 30
  • 94 (a)
ManyToMany
-- 30
  • 91 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 30
  • 52 (a)
ManyToMany
-- 30
  • 42 (a)
ManyToMany
-- 30
  • 41 (a)
ManyToMany
-- 30
  • 41 (a)
ManyToMany
ULBP27 30
  • 40 (a)
ManyToMany
-- 30
  • 35 (a)
ManyToMany
-- 30
  • 33 (a)
ManyToMany
ULBP3 30
  • 33 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 31 (a)
OneToMany
Species where no ortholog for RAET1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Alliance of Genome Resources:
Additional Orthologs for RAET1L

Paralogs for RAET1L Gene

(13) SIMAP similar genes for RAET1L Gene using alignment to 6 proteins:

  • RET1L_HUMAN
  • J7HBD2_HUMAN
  • J7HBE3_HUMAN
  • J7HBF1_HUMAN
  • J7HEN7_HUMAN
  • J7HHH7_HUMAN

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAET1L Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs201609351 Benign: not provided 150,021,167(-) T/G
NM_130900.3(RAET1L):c.369A>C (p.Ala123=)
SYNONYMOUS
rs770221620 Likely Benign: not provided 150,025,454(-) G/T
NM_130900.3(RAET1L):c.18C>A (p.Ile6=)
SYNONYMOUS
rs9479413 Benign: not provided 150,021,174(-) A/G
NM_130900.3(RAET1L):c.362T>C (p.Leu121Pro)
MISSENSE
rs1543547 -- p.Arg26Gly
rs1555696 -- p.Leu106Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAET1L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
RAET1L

SNP Genotyping and Copy Number Assays for research

Disorders for RAET1L Gene

MalaCards: The human disease database

(3) MalaCards diseases for RAET1L Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RAET1L

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RAET1L: view

No data available for 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
  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
  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 40
  4. ULBP6/RAET1L is an additional human NKG2D ligand. (PMID: 19658097) Eagle RA … Trowsdale J (European journal of immunology 2009) 3 4
  5. Polymorphisms of NKG2D ligands: diverse RAET1/ULBP genes in northeastern Thais. (PMID: 19688209) Romphruk AV … Leelayuwat C (Immunogenetics 2009) 3 40

Products for RAET1L Gene

Sources for RAET1L Gene