SHQ1

Chr 3p13

SHQ1, H/ACA ribonucleoprotein assembly factor

Aliases:: FLJ10539, Shq1p
MANE:: ENST00000325599.13

OMIM: 613663 ↗NCBI: 55164 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SHQ1 · Q6PI26

v62025-08-01

Predicted Aligned Error matrix for SHQ1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.5/ 100

Confident

577 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)26%
Low(50–70)5%
Very low(< 50)30%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with dystonia and seizures
0.76
dystonia 28, childhood-onset
0.46
type 2 diabetes mellitus
0.37
early-onset generalized limb-onset dystonia
0.37
diabetes mellitus
0.31
neurodegenerative disease
0.28
Cachexia
0.24
neoplasm
0.08
cancer
0.08
acute lymphoblastic leukemia
0.08

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

Protein function (UniProt)

Protein SHQ1 homolog

Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA