SNUPN

Chr 15

snurportin 1

Also known as: KPNBL, LGMDR29, RNUT1, Snurportin1

NCBI Gene: 10073 ENSG00000169371 UniProt: O95149

The protein functions as a nuclear import receptor that specifically recognizes the trimethylguanosine cap structure of spliceosomal U snRNPs and facilitates their transport into the nucleus. Mutations cause limb-girdle muscular dystrophy type 29, which follows autosomal recessive inheritance. The gene shows extreme intolerance to loss-of-function variants (pLI ~1.0), indicating that biallelic variants are required for disease manifestation.

ResearchSummary from RefSeq, OMIM, UniProt

The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy, limb-girdle, autosomal recessive 29

Clinical highlights

Gene-disease validity (ClinGen)

SNUPN-related muscular dystrophy with or without multi-system involvement · ARStrongappropriate for clinical testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.49

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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