Seroatlas · Human Serome Atlas

SNUPN

Snurportin-1

Also known as: RNUT1, SNURPORTIN-1, Snurportin1, SPN1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O95149
Gene: SNUPN
Ensembl: ENSG00000169371
Chromosome: 15
Canonical length: 360 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

360 residues, UniProt reviewed canonical sequence.

>O95149|SNUPN
     1  MEELSQALAS SFSVSQDLNS TAAPHPRLSQ YKSKYSSLEQ SERRRRLLEL QKSKRLDYVN
    61  HARRLAEDDW TGMESEEENK KDDEEMDIDT VKKLPKHYAN QLMLSEWLID VPSDLGQEWI
   121  VVVCPVGKRA LIVASRGSTS AYTKSGYCVN RFSSLLPGGN RRNSTAKDYT ILDCIYNEVN
   181  QTYYVLDVMC WRGHPFYDCQ TDFRFYWMHS KLPEEEGLGE KTKLNPFKFV GLKNFPCTPE
   241  SLCDVLSMDF PFEVDGLLFY HKQTHYSPGS TPLVGWLRPY MVSDVLGVAV PAGPLTTKPD
   301  YAGHQLQQIM EHKKSQKEGM KEKLTHKASE NGHYELEHLS TPKLKGSSHS PDHPGCLMEN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SNUPN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.34
Highest tissue expression: 34 nTPM

Expression across tissuesHPA

Tissue

testis: 34 nTPM
choroid plexus: 34 nTPM
skeletal muscle: 33 nTPM
ovary: 29 nTPM
tongue: 29 nTPM
smooth muscle: 23 nTPM

Single-cell type

late primary spermatocytes: 90 nCPM
early spermatids: 57 nCPM
late spermatids: 43 nCPM
myonuclei: 32 nCPM
megakaryocyte progenitors: 21 nCPM
megakaryocyte-erythroid progenitors: 19 nCPM

Immune cell

naive CD4 T-cell: 63 nTPM
MAIT T-cell: 57 nTPM
naive CD8 T-cell: 53 nTPM
memory CD4 T-cell: 49 nTPM
myeloid DC: 48 nTPM
gdT-cell: 48 nTPM

Brain region

choroid plexus: 29 nTPM
hippocampal formation: 28 nTPM
cerebral cortex: 27 nTPM
basal ganglia: 26 nTPM
white matter: 26 nTPM
hypothalamus: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SNUPN.

Disease | AllUniProt

Conditions SNUPN is implicated in, by any mechanism.

Muscular dystrophy, limb-girdle, autosomal recessive 29 (LGMDR29) MIM:620793

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 63 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Muscular dystrophy, limb-girdle, autosomal recessive 29

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.49
gnomAD pLI: 0
gnomAD missense Z: 0.61
DepMap mean gene effect: -0.99
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Importin-alpha, importin-beta-binding domain
Snurportin-1
Snurportin-1, N-terminal
Snurportin-1, m3G cap-binding domain
Snurportin1
Snurportin1, m3G cap-binding domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SNUPN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SNUPN as an antibody target. Whether an autoantibody or antibody against SNUPN could matter depends on whether native SNUPN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SNUPN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SNUPN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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