SPOUT1

Chr 9q34.11

SPOUT domain containing methyltransferase 1

Aliases:: HSPC109, CENP-32
MANE:: ENST00000361256.10

OMIM: 617614 ↗NCBI: 51490 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SPOUT1 · Q5T280

v62025-08-01

Predicted Aligned Error matrix for SPOUT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.4/ 100

Confident

376 residues

Confidence breakdown

Very high(≥ 90)68%
Confident(70–90)20%
Low(50–70)9%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
0.66
neurodevelopmental disorder
0.41
undetermined early-onset epileptic encephalopathy
0.27
Chronic Obstructive Asthma
0.19
hypothyroidism
0.14
response to statin
0.08
allergic disease
0.02
neoplasm
0.02
Neurodevelopmental delay
0.01
epilepsy
0.01

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

Protein function (UniProt)

28S rRNA (uridine-N(3))-methyltransferase

S-adenosyl-L-methionine-dependent RNA methyltransferase (PubMed:39671501, PubMed:39962046). Specifically methylates the N3 position of a uridine in 28S rRNA (PubMed:39671501). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase, ensuring proper spindle organization (PubMed:20813266, PubMed:25657325, PubMed:39962046). Also involved in chromosome alignment (PubMed:20813266). May promote centrosome maturation probably by recruiting A-kinase anchor protein AKAP9 to centrosomes in early mitosis (PubMed:25657325). Binds specifically to miRNA MIR145 hairpin, regulates MIR145 expression at a postranscriptional level (PubMed:28431233)