SNUPN Gene

Name	snurportin 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSNURPORTIN‐1, the protein product of SNUPN, is a pivotal transport adaptor that mediates the nuclear import and export of spliceosomal small nuclear ribonucleoproteins (snRNPs). Early structural studies revealed that SNURPORTIN‐1 engages directly with the export receptor CRM1 via an extensive binding interface—featuring hydrophobic residues at its amino terminus and a cap‐binding domain—to facilitate the return of cargo‐free protein to the cytoplasm."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Additionally, SNURPORTIN‐1 serves as a bridge between the 2,2,7‐trimethylguanosine (TMG) cap of snRNPs and the import receptor importin β. Through its TMG cap–binding and importin β binding domains, SNURPORTIN‐1 supports the efficient delivery of cytoplasmically matured snRNPs into the nucleus."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMolecular investigations have further elucidated the mechanistic nuances of SNURPORTIN‐1’s function. Detailed mutagenesis and binding studies indicate that single–amino acid changes within the importin β binding domain can selectively abrogate SNURPORTIN‐1’s interaction with importin β while preserving its capacity to bind export receptors or TMG caps. Simulations have shown that binding of the dimethylated RNA cap triggers substantial conformational rearrangements and water entropy gains that drive the interaction, underscoring a finely tuned desolvation‐dependent mechanism."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its classical role in snRNP trafficking, recent genetic and clinical studies have expanded the functional landscape of SNURPORTIN‐1. Analyses incorporating functional variant scores have identified rare SNUPN variants significantly associated with alterations in systolic blood pressure, suggesting broader physiological implications. Most strikingly, SNURPORTIN‐1 deficiency arising from biallelic hypomorphic mutations leads to aberrant oligomerization, cytoplasmic aggregation, defective spliceosomal maturation, and breakdown of Cajal bodies. These molecular defects culminate in transcriptome-wide splicing dysregulation that underpins a novel subtype of muscular dystrophy accompanied by neurological impairments."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Thomas Monecke, Thomas Güttler, Piotr Neumann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Crystal structure of the nuclear export receptor CRM1 in complex with Snurportin1 and RanGTP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1173388"}], "href": "https://doi.org/10.1126/science.1173388"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19389996"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19389996"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Usha Narayanan, Jason K Ospina, Mark R Frey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/11.15.1785"}], "href": "https://doi.org/10.1093/hmg/11.15.1785"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12095920"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12095920"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jason K Ospina, Graydon B Gonsalvez, Janna Bednenko, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cross-talk between snurportin1 subdomains."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e05-04-0316"}], "href": "https://doi.org/10.1091/mbc.e05-04-0316"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16030253"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16030253"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Maik Goette, Martin C Stumpe, Ralf Ficner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular determinants of snurportin 1 ligand affinity and structural response upon binding."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biophys J (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bpj.2009.04.049"}], "href": "https://doi.org/10.1016/j.bpj.2009.04.049"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19619473"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19619473"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Charles L Zhao, Seyed Hanif Mahboobi, Ruhollah Moussavi-Baygi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The interaction of CRM1 and the nuclear pore protein Tpr."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0093709"}], "href": "https://doi.org/10.1371/journal.pone.0093709"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24722547"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24722547"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Stefanie Friedrichs, Dörthe Malzahn, Elizabeth W Pugh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Filtering genetic variants and placing informative priors based on putative biological function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12863-015-0313-x"}], "href": "https://doi.org/10.1186/s12863-015-0313-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26866982"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26866982"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-024-45933-5"}], "href": "https://doi.org/10.1038/s41467-024-45933-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38413582"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38413582"}]}]}]}
Synonyms	SNURPORTIN1, RNUT1, KPNBL
Proteins	SPN1_HUMAN
NCBI Gene ID	10073
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SNUPN has 5,913 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 108 datasets.

Click the + buttons to view associations for SNUPN from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SNUPN Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SNUPN gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of SNUPN gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SNUPN gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SNUPN gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SNUPN gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SNUPN gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SNUPN gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SNUPN gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SNUPN gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SNUPN gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SNUPN gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of SNUPN gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SNUPN protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SNUPN gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SNUPN gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SNUPN gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing SNUPN protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SNUPN gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SNUPN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SNUPN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing SNUPN protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing SNUPN protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SNUPN protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SNUPN protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing SNUPN protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of SNUPN gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SNUPN gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with SNUPN gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of SNUPN protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving SNUPN gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SNUPN gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SNUPN gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SNUPN gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SNUPN gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing SNUPN from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of SNUPN gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with SNUPN gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing SNUPN from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of SNUPN gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of SNUPN gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.