ULBP1

Chr 6

UL16 binding protein 1

Also known as: N2DL-1, NKG2DL1, RAET1I

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]

ResearchGenerating clinical summary…
0
Active trials
21
Pubs (1 yr)
P/LP submissions
P/LP missense
1.52
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.52LOEUF
pLI 0.000
Z-score 0.30
OE 0.90 (0.561.52)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.22Z-score
OE missense 1.31 (1.151.49)
162 obs / 123.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.90 (0.561.52)
00.351.4
Missense OE?1.31 (1.151.49)
00.61.4
Synonymous OE?1.36
01.21.6
LoF obs/exp: 10 / 11.1Missense obs/exp: 162 / 123.7Syn Z: -1.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ULBP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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