SNUPN

Chr 15q24.2

snurportin 1

Aliases:: SNURPORTIN-1, Snurportin1
MANE:: ENST00000308588.10

OMIM: 607902 ↗NCBI: 10073 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SNUPN · O95149

v62025-08-01

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

Mean pLDDT

82.8/ 100

Confident

360 residues

Confidence breakdown

Very high(≥ 90)58%
Confident(70–90)22%
Low(50–70)6%
Very low(< 50)13%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

muscular dystrophy, limb-girdle, autosomal recessive 29
0.61
SNUPN-related muscular dystrophy with or without multi-system involvement
0.49
Abnormality of the skeletal system
0.37
type 2 diabetes mellitus
0.18
alcohol drinking
0.16
urolithiasis
0.16
Jaundice
0.13
diabetes mellitus
0.04
luminal A breast carcinoma
0.03
breast carcinoma
0.03

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

Protein function (UniProt)

Snurportin-1

Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs