The protein encoded by this gene is a ligand of natural killer group 2, member D (NKG2D), an immune system-activating receptor on NK cells and T-cells. Binding of the encoded ligand to NKG2D leads to activation of several signal transduction pathways, including those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomegalovirus-infected cells, this ligand binds the UL16 gly... See more...

Aliases for ULBP1 Gene

Aliases for ULBP1 Gene

  • UL16 Binding Protein 1 2 3 5
  • RAET1I 2 3 4
  • Retinoic Acid Early Transcript 1I 3 4
  • UL16-Binding Protein 1 3 4
  • NKG2D Ligand 1 3 4
  • NKG2DL1 3 4
  • N2DL-1 3 4
  • Alcan-Beta 3
  • ALCAN-Beta 4
  • ULBP1 5
  • N2DL1 4

External Ids for ULBP1 Gene

Previous GeneCards Identifiers for ULBP1 Gene

  • GC06P149846
  • GC06P150180
  • GC06P150316
  • GC06P150377
  • GC06P150326
  • GC06P150285
  • GC06P147850

Summaries for ULBP1 Gene

Entrez Gene Summary for ULBP1 Gene

  • The protein encoded by this gene is a ligand of natural killer group 2, member D (NKG2D), an immune system-activating receptor on NK cells and T-cells. Binding of the encoded ligand to NKG2D leads to activation of several signal transduction pathways, including those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomegalovirus-infected cells, this ligand binds the UL16 glycoprotein and is prevented from activating the immune system. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

GeneCards Summary for ULBP1 Gene

ULBP1 (UL16 Binding Protein 1) is a Protein Coding gene. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Innate Immune System. 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 RAET1L.

UniProtKB/Swiss-Prot Summary for ULBP1 Gene

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

Gene Wiki entry for ULBP1 Gene

Additional gene information for ULBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ULBP1 Gene

Genomics for ULBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ULBP1 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
GH06J149962 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 628.7 +0.6 592 3.7 CEBPG CREB1 PRDM10 ZNF629 RFX1 LEF1 IKZF1 ZNF692 TARDBP JUND ULBP1 LATS1 NUP43 PPIL4 KATNA1 RAET1K ENSG00000233330 ULBP2 ENSG00000219298 RAET1L
GH06J150004 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 18.3 +41.3 41257 2 CREB1 PRDM10 ZNF629 TFE3 IKZF1 ZNF692 LARP7 RELA RFX1 ZIC2 RAET1K lnc-RAET1L-2 LATS1 PPIL4 ENSG00000233330 RPS18P9 ULBP1 NUP43 KATNA1 GINM1
GH06J149858 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.1 -101.8 -101780 6.5 HNRNPL GATAD2A CTCF ZBTB33 PRDM10 ZNF629 TFE3 SOX13 NFKBIZ ZNF692 LRP11 ENSG00000268592 RAET1E-AS1 lnc-RAET1E-2 ENSG00000216906 ENSG00000231760 RAET1E LATS1 NUP43 ULBP1
GH06J150008 Enhancer 0.7 Ensembl 13.3 +44.8 44758 0.6 CREB1 ZNF629 ZNF692 JUND PATZ1 ZNF600 KLF9 ZBTB20 KLF7 ZBTB10 ULBP1 RAET1K RAET1L
GH06J150007 Enhancer 0.7 ENCODE 13.3 +43.3 43347 0.2 CTCF PRDM10 ZNF143 TCF12 IKZF2 ZNF24 TRIM22 ZNF341 SCRT2 EED ULBP1 RAET1L RAET1K
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ULBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ULBP1

Top Transcription factor binding sites by QIAGEN in the ULBP1 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for ULBP1 Gene

Genomic Locations for ULBP1 Gene
chr6:149,963,943-149,973,715
(GRCh38/hg38)
Size:
9,773 bases
Orientation:
Plus strand
chr6:150,285,143-150,294,846
(GRCh37/hg19)
Size:
9,704 bases
Orientation:
Plus strand

Genomic View for ULBP1 Gene

Genes around ULBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ULBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ULBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ULBP1 Gene

Proteins for ULBP1 Gene

  • Protein details for ULBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZM6-ULBP1_HUMAN
    Recommended name:
    UL16-binding protein 1
    Protein Accession:
    Q9BZM6
    Secondary Accessions:
    • Q5VY81
    • Q8IZW3
    • Q8IZX6

    Protein attributes for ULBP1 Gene

    Size:
    244 amino acids
    Molecular mass:
    27997 Da
    Quaternary structure:
    • Interacts with KLRK1/NKG2D (PubMed:11777960). Does not bind to beta2-microglobulin (PubMed:12782710).
    • (Microbial infection) In CMV-infected cells, interacts with the viral glycoprotein UL16; this interaction causes ULBP1 retention in the endoplasmic reticulum and cis-Golgi 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.

neXtProt entry for ULBP1 Gene

Post-translational modifications for ULBP1 Gene

  • Glycosylation at Asn82

Other Protein References for ULBP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ULBP1 Gene

Domains & Families for ULBP1 Gene

Gene Families for ULBP1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ULBP1 Gene

InterPro:
Blocks:
  • MHC class I signature
ProtoNet:

Suggested Antigen Peptide Sequences for ULBP1 Gene

GenScript: Design optimal peptide antigens:
  • UL16-binding protein 1 (N2DL1_HUMAN)
  • cDNA, FLJ94797, Homo sapiens UL16 binding protein 1 (ULBP1), mRNA (Q5VY81_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZM6

UniProtKB/Swiss-Prot:

ULBP1_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 ULBP1: view

Function for ULBP1 Gene

Molecular function for ULBP1 Gene

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

Phenotypes From GWAS Catalog for ULBP1 Gene

Gene Ontology (GO) - Molecular Function for ULBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28559451
GO:0046703 natural killer cell lectin-like receptor binding IDA 11239445
genes like me logo Genes that share ontologies with ULBP1: view
genes like me logo Genes that share phenotypes with ULBP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ULBP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ULBP1 Gene

Localization for ULBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ULBP1 Gene

Cell membrane. Lipid-anchor, GPI-anchor. Endoplasmic reticulum. Note=In CMV-infected fibroblasts, detected in the endoplasmic reticulum/cis-Golgi. {ECO:0000269 PubMed:12782710}.

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 ULBP1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
endoplasmic reticulum 4
cytosol 4
nucleus 2
lysosome 2
cytoskeleton 1
mitochondrion 1
endosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ULBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with ULBP1: view

Pathways & Interactions for ULBP1 Gene

genes like me logo Genes that share pathways with ULBP1: view

Pathways by source for ULBP1 Gene

Gene Ontology (GO) - Biological Process for ULBP1 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 --
GO:0030101 natural killer cell activation IDA 11239445
GO:0042267 natural killer cell mediated cytotoxicity IDA 11239445
genes like me logo Genes that share ontologies with ULBP1: view

No data available for SIGNOR curated interactions for ULBP1 Gene

Drugs & Compounds for ULBP1 Gene

(1) Drugs for ULBP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with ULBP1: view

Transcripts for ULBP1 Gene

mRNA/cDNA for ULBP1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ULBP1

Alternative Splicing Database (ASD) splice patterns (SP) for ULBP1 Gene

No ASD Table

Relevant External Links for ULBP1 Gene

GeneLoc Exon Structure for
ULBP1

Expression for ULBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ULBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ULBP1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.8) and Brain - Cerebellum (x7.5).

Protein differential expression in normal tissues from HIPED for ULBP1 Gene

This gene is overexpressed in Serum (45.0) and Tlymphocyte (24.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ULBP1 Gene



Protein tissue co-expression partners for ULBP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ULBP1

SOURCE GeneReport for Unigene cluster for ULBP1 Gene:

Hs.653255

mRNA Expression by UniProt/SwissProt for ULBP1 Gene:

Q9BZM6-ULBP1_HUMAN
Tissue specificity: Expressed in T-cells, B-cells, erythroleukemia cell lines and in a wide range of tissues including heart, brain, lung, liver, testis, lymph node, thymus, tonsil and bone marrow. Also found in fetal heart, brain, lung and liver.

Evidence on tissue expression from TISSUES for ULBP1 Gene

  • Nervous system(4.3)
  • Blood(2.5)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with ULBP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ULBP1 Gene

Orthologs for ULBP1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ULBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ULBP1 30 31
  • 99.45 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ulbp1 30 17
  • 59.76 (n)
Cow
(Bos Taurus)
Mammalia -- 31
  • 41 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 34 (a)
OneToMany
Species where no ortholog for ULBP1 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)
  • 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 ULBP1 Gene

ENSEMBL:
Gene Tree for ULBP1 (if available)
TreeFam:
Gene Tree for ULBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ULBP1: view image

Paralogs for ULBP1 Gene

(8) SIMAP similar genes for ULBP1 Gene using alignment to 1 proteins:

  • N2DL1_HUMAN

Pseudogenes.org Pseudogenes for ULBP1 Gene

genes like me logo Genes that share paralogs with ULBP1: view

Variants for ULBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ULBP1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
716074 Benign: not provided 149,969,166(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
716075 Benign: not provided 149,969,262(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
720271 Benign: not provided 149,970,071(+) C/CA FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
728612 Benign: not provided 149,969,235(+) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
746644 Likely Benign: not provided 149,969,218(+) T/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ULBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ULBP1 Gene

Variant ID Type Subtype PubMed ID
esv2217053 CNV deletion 18987734
esv2672704 CNV deletion 23128226
esv2732866 CNV deletion 23290073
esv2732867 CNV deletion 23290073
esv2732868 CNV deletion 23290073
esv2732869 CNV deletion 23290073
esv3611218 CNV loss 21293372
esv3890963 CNV loss 25118596
nsv1116475 OTHER inversion 24896259
nsv1121657 CNV deletion 24896259
nsv436711 OTHER inversion 17901297
nsv517022 CNV gain+loss 19592680
nsv970175 CNV duplication 23825009

Variation tolerance for ULBP1 Gene

Residual Variation Intolerance Score: 51.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ULBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ULBP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ULBP1 Gene

Disorders for ULBP1 Gene

Additional Disease Information for ULBP1

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

No disorders were found for ULBP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ULBP1 Gene

Publications for ULBP1 Gene

  1. 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 23 41
  2. Polymorphisms of NKG2D ligands: diverse RAET1/ULBP genes in northeastern Thais. (PMID: 19688209) Romphruk AV … Leelayuwat C (Immunogenetics 2009) 3 23 41
  3. 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
  4. ULBPs, novel MHC class I-related molecules, bind to CMV glycoprotein UL16 and stimulate NK cytotoxicity through the NKG2D receptor. (PMID: 11239445) Cosman D … Chalupny NJ (Immunity 2001) 2 3 4
  5. Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines. (PMID: 20923822) Niu N … Wang L (Genome research 2010) 3 41

Products for ULBP1 Gene

  • Boster Bio Antibodies for ULBP1
  • Boster Bio ELISA Kits for ULBP1

Sources for ULBP1 Gene