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SNUPN snurportin 1 [ Homo sapiens (human) ]

Gene ID: 10073, updated on 8-Dec-2018

Summary

Official Symbol
SNUPNprovided by HGNC
Official Full Name
snurportin 1provided by HGNC
Primary source
HGNC:HGNC:14245
See related
Ensembl:ENSG00000169371 MIM:607902
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; 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

Genomic context

See SNUPN in Genome Data Viewer
Location:
15q24.2
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (75598083..75626378, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75890424..75918719, 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 small nuclear ribonucleoprotein F-like Neighboring gene IMP3, U3 small nucleolar ribonucleoprotein Neighboring gene sorting nexin 33

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Metabolism of non-coding RNA, organism-specific biosystem (from REACTOME)
    Metabolism of non-coding RNA, organism-specific biosystemThe term non-coding is commonly employed for RNA that does not encode a protein, but this does not mean that such RNAs do not contain information nor have function. There is considerable evidence tha...
  • RNA transport, organism-specific biosystem (from KEGG)
    RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • RNA transport, conserved biosystem (from KEGG)
    RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • snRNP Assembly, organism-specific biosystem (from REACTOME)
    snRNP Assembly, organism-specific biosystemSmall nuclear ribonucleoproteins (snRNPs) are crucial for pre-mRNA processing to mRNAs. Each snRNP contains a small nuclear RNA (snRNA) and an extremely stable core of seven Sm proteins. The U6 snRNA...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PTPN9

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA cap binding TAS
Traceable Author Statement
more info
PubMed 
nuclear import signal receptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
import into nucleus TAS
Traceable Author Statement
more info
 
protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
snRNA import into nucleus IEA
Inferred from Electronic Annotation
more info
 
spliceosomal snRNP assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nuclear pore TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
snurportin-1
Names
RNA U transporter 1

NCBI Reference Sequences (RefSeq)

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_001042581.1NP_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)
    BC004203, CD244425
    Consensus CDS
    CCDS10281.1
    UniProtKB/Swiss-Prot
    O95149
    Conserved Domains (2) summary
    cd09232
    Location:97280
    Snurportin-1_C; C-terminal m3G cap-binding domain of nuclear import adaptor snurportin-1
    pfam11538
    Location:2564
    Snurportin1; Snurportin1
  2. NM_001042588.1NP_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
    O95149
    Conserved Domains (2) summary
    cd09232
    Location:97280
    Snurportin-1_C; C-terminal m3G cap-binding domain of nuclear import adaptor snurportin-1
    pfam11538
    Location:2564
    Snurportin1; Snurportin1
  3. NM_005701.3NP_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)
    AC105020, BC004203, CD244425
    Consensus CDS
    CCDS10281.1
    UniProtKB/Swiss-Prot
    O95149
    Related
    ENSP00000309831.5, ENST00000308588.9
    Conserved Domains (2) summary
    cd09232
    Location:97280
    Snurportin-1_C; C-terminal m3G cap-binding domain of nuclear import adaptor snurportin-1
    pfam11538
    Location:2564
    Snurportin1; Snurportin1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    75598083..75626378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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