SNUPN
entrez
10073
canonical
uniprot
O95149
canonical
ensembl
ENSG00000169371
resolver
ensp
ENSP00000309831
resolver
ensp
ENSP00000454852
resolver
ensp
ENSP00000456224
resolver
ensp
ENSP00000458053
resolver
ensp
ENSP00000566222
resolver
ensp
ENSP00000566223
resolver
ensp
ENSP00000566229
resolver
ensp
ENSP00000566230
resolver
ensp
ENSP00000566231
resolver
ensp
ENSP00000604083
resolver
ensp
ENSP00000604084
resolver
ensp
ENSP00000630281
resolver
ensp
ENSP00000630284
resolver
enst
ENST00000308588
resolver
enst
ENST00000564644
resolver
enst
ENST00000564675
resolver
enst
ENST00000567134
resolver
enst
ENST00000896163
resolver
enst
ENST00000896164
resolver
enst
ENST00000896170
resolver
enst
ENST00000896171
resolver
enst
ENST00000896172
resolver
enst
ENST00000934024
resolver
enst
ENST00000934025
resolver
enst
ENST00000960222
resolver
enst
ENST00000960225
resolver
genesymbol
SNUPN
resolver
genesymbol_syn
RNUT1
resolver
genesymbol_syn
SPN1
resolver
hgnc
HGNC:14245
resolver
uniprot
A6NE34
resolver
uniprot
A8K0B0
resolver
uniprot
D3DW76
resolver
uniprot_entry
SPN1_HUMAN
resolver
uniprot_sec
A6NE34
resolver
uniprot_sec
A8K0B0
resolver
uniprot_sec
D3DW76
resolver
amino_acid_sequence
MEELSQALASSFSVSQDLNSTAAPHPRLSQYKSKYSSLEQSERRRRLLELQKSKRLDYVNHARRLAEDDWTGMESEEENKKDDEEMDIDTVKKLPKHYANQLMLSEWLIDVPSDLGQEWIVVVCPVGKRALIVASRGSTSAYTKSGYCVNRFSSLLPGGNRRNSTAKDYTILDCIYNEVNQTYYVLDVMCWRGHPFYDCQTDFRFYWMHSKLPEEEGLGEKTKLNPFKFVGLKNFPCTPESLCDVLSMDFPFEVDGLLFYHKQTHYSPGSTPLVGWLRPYMVSDVLGVAVPAGPLTTKPDYAGHQLQQIMEHKKSQKEGMKEKLTHKASENGHYELEHLSTPKLKGSSHSPDHPGCLMEN
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 29 (LGMDR29) [MIM:620793]: An autosomal recessive form of limb girdle muscular dystrophy, a group of genetically heterogeneous muscular disorders that share proximal muscle weakness as the major attribute. Most limb girdle muscular dystrophies present with elevated creatinine kinase and myopathic electromyographic features. Disease is usually progressive to a variable degree, ranging from minor disability to complete inability to ambulate, and can involve the large proximal muscles, as well as axial and facial muscles. Different disease forms may exhibit skeletal muscle hypertrophy, kyphoscoliosis, and contractures or involve other muscle groups and manifest with distal weakness, cardiomyopathy, dysphagia, and respiratory difficulties. LGMDR29 is characterized by muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs. Additional features include joint contractures, spinal abnormalities, and significant restrictive ventilatory dysfunction. In rare cases, central nervous system involvement has been reported, including cataracts, developmental delay, and brain imaging abnormalities. {ECO:0000269|PubMed:38366623, ECO:0000269|PubMed:38413582}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs. {ECO:0000269|PubMed:10209022, ECO:0000269|PubMed:15920472, ECO:0000269|PubMed:16030253, ECO:0000269|PubMed:38413582, ECO:0000269|PubMed:9670026}.
uniprot
proteins
mass_dalton
41143
uniprot
proteins
mutagenesis
MUTAGEN 27; /note="R->A: Abolishes interaction with KPNB1 and m3G-cap U1 snRNP import receptor activity."; /evidence="ECO:0000269|PubMed:16030253"; MUTAGEN 107; /note="W->A: Reduces binding to m3G-cap structure, interaction with XPO1 and snRNP import receptor activity."; /evidence="ECO:0000269|PubMed:15920472, ECO:0000269|PubMed:16030253"; MUTAGEN 203..207; /note="FRFYW->A: Reduces binding to m3G-cap structure."; /evidence="ECO:0000269|PubMed:16030253"; MUTAGEN 276; /note="W->A: Reduces binding to m3G-cap structure, interaction with XPO1 and snRNP import receptor activity."; /evidence="ECO:0000269|PubMed:15920472, ECO:0000269|PubMed:16030253
uniprot
proteins
protein_family
Snurportin family
uniprot
proteins
pubmed
10209022
uniprot
proteins
pubmed
12095920
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15920472
uniprot
proteins
pubmed
16030253
uniprot
proteins
pubmed
18187419
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20476751
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
38366623
uniprot
proteins
pubmed
38413582
uniprot
proteins
pubmed
9670026
uniprot
proteins
sequence_length
360
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10209022, ECO:0000269|PubMed:15920472, ECO:0000269|PubMed:38413582}. Cytoplasm {ECO:0000269|PubMed:12095920, ECO:0000269|PubMed:38413582, ECO:0000269|PubMed:9670026, ECO:0000305|PubMed:10209022}. Note=Nucleoplasmic shuttling protein. Its nuclear import involves the nucleocytoplasmic transport receptor importin beta (PubMed:10209022, PubMed:12095920). It is re-exported to the cytoplasm by the XPO1-dependent nuclear export receptor pathway (PubMed:10209022). {ECO:0000269|PubMed:10209022, ECO:0000269|PubMed:12095920}.
uniprot
proteins