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    SNUPN snurportin 1 [ Homo sapiens (human) ]

    Gene ID: 10073, updated on 14-Nov-2024

    Summary

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    Official Symbol
    SNUPNprovided by HGNC
    Official Full Name
    snurportin 1provided by HGNC
    Primary source
    HGNC:HGNC:14245
    See related
    Ensembl:ENSG00000169371 MIM:607902; AllianceGenome:HGNC:14245
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KPNBL; RNUT1; LGMDR29; Snurportin1
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 12.3), ovary (RPKM 8.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNUPN in Genome Data Viewer
    Location:
    15q24.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (75598086..75626461, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (73468790..73497167, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75890427..75918802, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370902 Neighboring gene protein tyrosine phosphatase non-receptor type 9 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:75797079-75797864 Neighboring gene small nuclear ribonucleoprotein F-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6673 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:75871223-75871821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6676 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:75940037-75940728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75943426-75944362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75945327-75945879 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75945880-75946431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75949231-75949732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75949733-75950232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75952205-75952778 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:75953927-75954500 Neighboring gene IMP U3 small nucleolar ribonucleoprotein 3 Neighboring gene sorting nexin 33

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nashabat M, et al. Nat Commun, 2024 Feb 27. PMID 38413582, Free PMC Article
    2. Molecular determinants of snurportin 1 ligand affinity and structural response upon binding. Goette M, et al. Biophys J, 2009 Jul 22. PMID 19619473, Free PMC Article
    3. Structural basis for m3G-cap-mediated nuclear import of spliceosomal UsnRNPs by snurportin1. Strasser A, et al. EMBO J, 2005 Jul 6. PMID 15920472, Free PMC Article
    4. Cross-talk between snurportin1 subdomains. Ospina JK, et al. Mol Biol Cell, 2005 Oct. PMID 16030253, Free PMC Article
    5. Molecular basis for the recognition of snurportin 1 by importin beta. Mitrousis G, et al. J Biol Chem, 2008 Mar 21. PMID 18187419

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
      Title: SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
    2. Results show that marker rs218966 in gene PHF14 and rs9836027 in MAP4 significantly associated with hypertension; additionally, rare variants in SNUPN significantly associated with systolic blood pressure.
      Title: Filtering genetic variants and placing informative priors based on putative biological function.
    3. analysis of interactions between CRM1 and the nuclear pore protein Tpr and snurportin
      Title: The interaction of CRM1 and the nuclear pore protein Tpr.
    4. the binding of dimethylated RNA-caps to snurportin 1
      Title: Molecular determinants of snurportin 1 ligand affinity and structural response upon binding.
    5. study presents the crystal structure of the SPN1.CRM1.RanGTP export complex at 2.5 angstrom resolution (where SPN1 is snurportin1 and RanGTP is guanosine 5' triphosphate-bound Ran
      Title: Crystal structure of the nuclear export receptor CRM1 in complex with Snurportin1 and RanGTP.
    6. There is an interaction between the N- and C-terminal domains of SPN, suggesting an autoregulatory function similar to that of importin-alpha.
      Title: Cross-talk between snurportin1 subdomains.
    7. SPN construct lacking the importin beta binding domain (IBB) localizes primarily to the nucleus rather than to the cytoplasm.
      Title: SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: PTPN9

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA cap binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables nuclear import signal receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA import into nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in RNA import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein complex oligomerization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein tetramerization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in snRNA import into nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of NLS-dependent protein nuclear import complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of nuclear pore TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    snurportin-1
    Names
    RNA U transporter 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001042581.2 → NP_001036046.1  snurportin-1

      See identical proteins and their annotated locations for NP_001036046.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC105020, BC004203, CD244425
      Consensus CDS
      CCDS10281.1
      UniProtKB/Swiss-Prot
      A6NE34, A8K0B0, D3DW76, O95149
      UniProtKB/TrEMBL
      B3KNP2
      Conserved Domains (2) summary
      cd09232
      Location:97 → 280
      Snurportin-1_C; C-terminal m3G cap-binding domain of nuclear import adaptor snurportin-1
      pfam11538
      Location:25 → 64
      Snurportin1; Snurportin1

    2. NM_001042588.2 → NP_001036053.1  snurportin-1

      See identical proteins and their annotated locations for NP_001036053.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC004203, BU945130
      Consensus CDS
      CCDS10281.1
      UniProtKB/Swiss-Prot
      A6NE34, A8K0B0, D3DW76, O95149
      UniProtKB/TrEMBL
      B3KNP2
      Conserved Domains (2) summary
      cd09232
      Location:97 → 280
      Snurportin-1_C; C-terminal m3G cap-binding domain of nuclear import adaptor snurportin-1
      pfam11538
      Location:25 → 64
      Snurportin1; Snurportin1

    3. NM_005701.4 → NP_005692.1  snurportin-1

      See identical proteins and their annotated locations for NP_005692.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC004203
      Consensus CDS
      CCDS10281.1
      UniProtKB/Swiss-Prot
      A6NE34, A8K0B0, D3DW76, O95149
      UniProtKB/TrEMBL
      B3KNP2
      Related
      ENSP00000309831.5, ENST00000308588.10
      Conserved Domains (2) summary
      cd09232
      Location:97 → 280
      Snurportin-1_C; C-terminal m3G cap-binding domain of nuclear import adaptor snurportin-1
      pfam11538
      Location:25 → 64
      Snurportin1; Snurportin1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      75598086..75626461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      73468790..73497167 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95149.1 GenPept UniProtKB/Swiss-Prot:O95149

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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