ULBP1 UL16 binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ULBP1provided by HGNC
Official Full Name: UL16 binding protein 1provided by HGNC
Primary source: HGNC:HGNC:14893
See related: Ensembl:ENSG00000111981 MIM:605697; AllianceGenome:HGNC:14893
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: N2DL-1; RAET1I; NKG2DL1
Summary: 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]
Expression: Biased expression in testis (RPKM 1.6), lung (RPKM 0.5) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (149963943..149973715)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (151163286..151173058)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (150285079..150294851)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Knockdown of the UL-16 binding protein 1 promotes osteoblast differentiation of human mesenchymal stem cells by activating the SMAD2/3 pathway.
Title: Knockdown of the UL-16 binding protein 1 promotes osteoblast differentiation of human mesenchymal stem cells by activating the SMAD2/3 pathway.
Human Cytomegalovirus UL24 and UL43 Cooperate to Modulate the Expression of Immunoregulatory UL16 Binding Protein 1.
Title: Human Cytomegalovirus UL24 and UL43 Cooperate to Modulate the Expression of Immunoregulatory UL16 Binding Protein 1.
Epithelial-mesenchymal transition may be involved in the immune evasion of circulating gastric tumor cells via downregulation of ULBP1.
Title: Epithelial-mesenchymal transition may be involved in the immune evasion of circulating gastric tumor cells via downregulation of ULBP1.
UL16-Binding Protein 1 Induced HTR-8/SVneo Autophagy via NF-kappaB Suppression Mediated by TNF-alpha Secreted through uNK Cells.
Title: UL16-Binding Protein 1 Induced HTR-8/SVneo Autophagy via NF-κB Suppression Mediated by TNF-α Secreted through uNK Cells.
we show that Simian Virus 40 (SV40)...evades NK cell attack through the down regulation of...ULBP1
Title: Downregulation of the stress-induced ligand ULBP1 following SV40 infection confers viral evasion from NK cell cytotoxicity.
ATF4 drives ULBP1 gene expression in cancer cell lines, while the RNA-binding protein RBM4 supports ULBP1 expression by suppressing a novel alternatively spliced isoform of ULBP1 mRNA.
Title: A forward genetic screen reveals novel independent regulators of ULBP1, an activating ligand for natural killer cells.
expression determines intrinsic acute myeloid leukemia susceptibility to allogeneic V[gamma]9V[delta]2 T cells
Title: A comprehensive analysis of primary acute myeloid leukemia identifies biomarkers predicting susceptibility to human allogeneic Vγ9Vδ2 T cells.
This study provides for the first time, the c-Myc dependent regulation of NKG2D ligands, ULBP1/2/3 in acute myeloid leukemia.
Title: c-Myc regulates expression of NKG2D ligands ULBP1/2/3 in AML and modulates their susceptibility to NK-mediated lysis.
recurrence-free survival of patients with ULBP1-negative hepatocellular carcinoma (HCC) was significantly shorter than that of patients with ULBP1-positive HCC
Title: Reduced NKG2D ligand expression in hepatocellular carcinoma correlates with early recurrence.
Findings define the involvement of p53 in the regulation of ULBP1 and ULBP2 which enhance NK cell-mediated target recognition.
Title: Human NK cells are alerted to induction of p53 in cancer cells by upregulation of the NKG2D ligands ULBP1 and ULBP2.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef downregulates cell surface expression of MICA, ULBP1 and ULBP2 in natural killer (NK) cells	PubMed
Vif	vif	A3G upregulates NKG2D ligands through an ATM pathway and in which HIV-1 Vif counteracts this upregulation by decreasing A3G expression	PubMed
	vif	Vpr-dependent induction and Vif-mediated attenuation of NKG2D ligands are required for Chk2 phosphorylation in HIV infection	PubMed
	vif	HIV-1 Vif expression in HIV-1 infected cells results in less HIV-1 Vpr-dependent upregulation of NKG2D ligands	PubMed
Vpr	vpr	HIV-1-Vpr induced upregulation of NKG2D ligands in HIV-infected T cells by activating UNG2-dependent repair of uridine-containing DNA	PubMed
	vpr	HIV-1 Vpr upregulates NKG2D ligands via the ATR pathway	PubMed
	vpr	Vpr-dependent induction and Vif-mediated attenuation of NKG2D ligands are required for Chk2 phosphorylation in HIV infection	PubMed
	vpr	HIV-1 Vif expression in HIV-1 infected cells results in less HIV-1 Vpr-dependent upregulation of NKG2D ligands	PubMed
	vpr	Upregulation of NKG2D ligands is dependent on HIV-1 Vpr-mediated activation of the TAR DNA damage/stress pathway, which requires the recruitment of the Cul4/DDB1/DCAF1 E3 ubiquitin ligase complex	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables natural killer cell lectin-like receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	IBA Inferred from Biological aspect of Ancestor more info
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in natural killer cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in natural killer cell mediated cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
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: UL16-binding protein 1

Names: NKG2D ligand 1; alcan-beta; retinoic acid early transcript 1I

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_001317089.2 → NP_001304018.1 UL16-binding protein 1 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK292519, AL355497, BC035416, BM670923, DB462306

UniProtKB/Swiss-Prot

Q9BZM6
NM_025218.4 → NP_079494.1 UL16-binding protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_079494.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK292519, AL355497, BC035416, BM670923

Consensus CDS

CCDS5223.1

UniProtKB/Swiss-Prot

Q5VY81, Q8IZW3, Q8IZX6, Q9BZM6

Related

ENSP00000229708.2, ENST00000229708.4

Conserved Domains (1) summary

cl08246
Location:31 → 205

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

RNA

NR_133659.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice junction at the 3' end of the first exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK292519, AL355497, BM670923, KT591165