TNPO3

Chr 7q32.1

transportin 3

Aliases:: TRN-SR, MTR10A, TRN-SR2, IPO12
MANE:: ENST00000265388.10

OMIM: 610032 ↗NCBI: 23534 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TNPO3 · Q9Y5L0

v62025-08-01

Predicted Aligned Error matrix for TNPO3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.4/ 100

Very high

923 residues

Confidence breakdown

Very high(≥ 90)91%
Confident(70–90)8%
Low(50–70)1%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

autosomal dominant limb-girdle muscular dystrophy type 1F
0.72
neurodegenerative disease
0.52
lysosomal storage disease
0.49
Alzheimer disease
0.46
Parkinson disease
0.46
multiple sclerosis
0.46
muscular dystrophy, limb-girdle, autosomal dominant
0.44
Autosomal dominant limb-girdle muscular dystrophy
0.37
systemic lupus erythematosus
0.29
autoimmune disorder of musculoskeletal system
0.26

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

Protein function (UniProt)

Transportin-3

Importin, which transports target proteins into the nucleus (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Specifically mediates the nuclear import of splicing factor serine/arginine (SR) proteins, such as RBM4, SFRS1 and SFRS2, by recognizing phosphorylated SR domains (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Also mediates the nuclear import of serine/arginine (SR) protein CPSF6, independently of CPSF6 phosphorylation (PubMed:30916345, PubMed:31465518). The nuclear import process is regulated by the small GTPase Ran that partitions between cytoplasm and nucleus in the predominantly GDP- and GTP-bound form, respectively (PubMed:23878195, PubMed:24449914). Importin associates with target cargo proteins in the cytoplasm, and the competitive binding of GTP-bound Ran induces the release of cargos in the nucleus (PubMed:23878195, PubMed:24449914)