USB1

Chr 16q21

U6 snRNA biogenesis phosphodiesterase 1

Aliases:: FLJ13154, HVSL1, Mpn1
MANE:: ENST00000219281.8

OMIM: 613276 ↗NCBI: 79650 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

USB1 · Q9BQ65

v62025-08-01

Predicted Aligned Error matrix for USB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.9/ 100

Confident

265 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)15%
Low(50–70)7%
Very low(< 50)15%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Cytopenias and congenital anaemias
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

poikiloderma with neutropenia
0.76
dyskeratosis congenita
0.47
hereditary disease
0.19
metabolic disease
0.06
chronic obstructive pulmonary disease
0.04
Decreased total neutrophil count
0.02
neutropenia
0.02
Sepsis
0.02
Rothmund-Thomson syndrome
0.01
pontocerebellar hypoplasia type 7
0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

U6 snRNA phosphodiesterase 1

3'-5' RNA exonuclease that trims the 3' end of oligo(U) and oligo(A) tracts of the pre-U6 small nuclear RNA (snRNA) molecule, leading to the formation of a mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate (PubMed:22899009, PubMed:23022480, PubMed:23190533, PubMed:26213367, PubMed:28887445, PubMed:30215753, PubMed:31832688). Participates in the U6 snRNA 3' end processing that prevents U6 snRNA degradation (PubMed:22899009, PubMed:23022480, PubMed:23190533, PubMed:26213367, PubMed:28887445, PubMed:30215753, PubMed:31832688). In addition also removes uridines from the 3' end of U6atac snRNA and possibly the vault RNA VTRNA1-1 (PubMed:26213367)