SNUPN (snurportin 1)

Identity

HGNC

SNUPN

LOCATION

15q24.2

LOCUSID

10073

ALIAS

KPNBL,RNUT1,Snurportin1

FUSION GENES

Show Gene Fusions

Other Information

Locus ID:

NCBI: 10073
MIM: 607902
HGNC: 14245
Ensembl: ENSG00000169371

Variants:

dbSNP: 10073
ClinVar: 10073
TCGA: ENSG00000169371
COSMIC: SNUPN

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000169371	ENST00000308588	O95149
ENSG00000169371	ENST00000563793	H3BQR0
ENSG00000169371	ENST00000564086	H3BSK1
ENSG00000169371	ENST00000564644	O95149
ENSG00000169371	ENST00000564675	O95149
ENSG00000169371	ENST00000567134	O95149
ENSG00000169371	ENST00000568078	H3BUB4
ENSG00000169371	ENST00000568162	H3BTA6
ENSG00000169371	ENST00000569817	H3BRI5

Expression (GTEx)

0

5

10

15

20

25

30

35

40

45

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
RNA transport	KEGG	ko03013
RNA transport	KEGG	hsa03013
Gene Expression	REACTOME	R-HSA-74160
Metabolism of non-coding RNA	REACTOME	R-HSA-194441
snRNP Assembly	REACTOME	R-HSA-191859

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38413582	2024	SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.	1
38413582	2024	SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.	1
26866982	2016	Filtering genetic variants and placing informative priors based on putative biological function.	3
26866982	2016	Filtering genetic variants and placing informative priors based on putative biological function.	3
24722547	2014	The interaction of CRM1 and the nuclear pore protein Tpr.	10
24722547	2014	The interaction of CRM1 and the nuclear pore protein Tpr.	10
19389996	2009	Crystal structure of the nuclear export receptor CRM1 in complex with Snurportin1 and RanGTP.	121
19619473	2009	Molecular determinants of snurportin 1 ligand affinity and structural response upon binding.	2
19389996	2009	Crystal structure of the nuclear export receptor CRM1 in complex with Snurportin1 and RanGTP.	121
19619473	2009	Molecular determinants of snurportin 1 ligand affinity and structural response upon binding.	2
16030253	2005	Cross-talk between snurportin1 subdomains.	19
16030253	2005	Cross-talk between snurportin1 subdomains.	19
12095920	2002	SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta.	53
12095920	2002	SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta.	53

Citation

Dessen P

SNUPN (snurportin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74044/img/cancer-prone-explorer/