SNRPN
Small nuclear ribonucleoprotein-associated protein N
Also known as: HCERN3, PWCR, RSMN_HUMAN, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P63162
- Gene
- SNRPN
- Ensembl
- ENSG00000128739
- Chromosome
- 15
- Canonical length
- 240 aa
- Protein class
- Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]
Canonical amino-acid sequenceUniProt
240 residues, UniProt reviewed canonical sequence.
>P63162|SNRPN
1 MTVGKSSKML QHIDYRMRCI LQDGRIFIGT FKAFDKHMNL ILCDCDEFRK IKPKNAKQPE
61 REEKRVLGLV LLRGENLVSM TVEGPPPKDT GIARVPLAGA AGGPGVGRAA GRGVPAGVPI
121 PQAPAGLAGP VRGVGGPSQQ VMTPQGRGTV AAAAVAATAS IAGAPTQYPP GRGTPPPPVG
181 RATPPPGIMA PPPGMRPPMG PPIGLPPARG TPIGMPPPGM RPPPPGIRGP PPPGMRPPRPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNRPN 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)
- 0.6
- Highest tissue expression
- 629 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 629 nTPM
- cerebellum: 532 nTPM
- basal ganglia: 496 nTPM
- hypothalamus: 476 nTPM
- amygdala: 466 nTPM
- hippocampal formation: 459 nTPM
Single-cell type
- epididymal principal cells: 606 nCPM
- brain inhibitory neurons: 345 nCPM
- other brain neurons: 329 nCPM
- platelets: 321 nCPM
- epididymal efferent duct absorptive cells: 260 nCPM
- epididymal basal cells: 240 nCPM
Immune cell
- total PBMC: 582 nTPM
- plasmacytoid DC: 533 nTPM
- naive CD4 T-cell: 510 nTPM
- T-reg: 436 nTPM
- naive CD8 T-cell: 422 nTPM
- memory CD4 T-cell: 387 nTPM
Brain region
- cerebral cortex: 667 nTPM
- hypothalamus: 626 nTPM
- basal ganglia: 533 nTPM
- hippocampal formation: 522 nTPM
- thalamus: 522 nTPM
- white matter: 521 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SNRPN.
Disease | ImmuneIEDB
Conditions an epitope on SNRPN was assayed in.
- systemic lupus erythematosus B cell
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)
- 0.83
- gnomAD pLI
- 0.04
- gnomAD missense Z
- 2.43
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SNRPN 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 SNRPN as an antibody target. Whether an autoantibody or antibody against SNRPN could matter depends on whether native SNRPN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNRPN 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 SNRPN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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