SNUPN snurportin 1 [Homo sapiens (human)] - Gene

Summary

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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
analysis of interactions between CRM1 and the nuclear pore protein Tpr and snurportin
Title: The interaction of CRM1 and the nuclear pore protein Tpr.
the binding of dimethylated RNA-caps to snurportin 1
Title: Molecular determinants of snurportin 1 ligand affinity and structural response upon binding.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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
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
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