SNURF
SNRPN upstream reading frame protein
Also known as: SNURF_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y675
- Gene
- SNURF
- Ensembl
- ENSG00000273173
- Chromosome
- 15
- Canonical length
- 71 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nuclear speckles
OverviewNCBI Gene
This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center 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
71 residues, UniProt reviewed canonical sequence.
>Q9Y675|SNURF
1 MERARDRLHL RRTTEQHVPE VEVQVKRRRT ASLSNQECQL YPRRSQQQQV PVVDFQAELR
61 QAFLAETPRG GLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNURF 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)
- 0.58
- Highest tissue expression
- 90 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 90 nTPM
- skeletal muscle: 58 nTPM
- cerebellum: 40 nTPM
- heart muscle: 30 nTPM
- epididymis: 25 nTPM
- retina: 22 nTPM
Single-cell type
- epididymal principal cells: 31 nCPM
- epididymal efferent duct absorptive cells: 5.3 nCPM
- epididymal basal cells: 5.1 nCPM
- epididymal clear cells: 4.1 nCPM
- paneth cells: 3.9 nCPM
- gastric chief cells: 3.3 nCPM
Immune cell
- naive CD4 T-cell: 41 nTPM
- naive CD8 T-cell: 38 nTPM
- T-reg: 36 nTPM
- memory CD4 T-cell: 33 nTPM
- MAIT T-cell: 31 nTPM
- naive B-cell: 28 nTPM
Brain region
- cerebellum: 38 nTPM
- cerebral cortex: 34 nTPM
- hypothalamus: 28 nTPM
- white matter: 21 nTPM
- hippocampal formation: 21 nTPM
- basal ganglia: 20 nTPM
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)
- 0.84
- gnomAD pLI
- 0.46
- gnomAD missense Z
- 0.3
- DepMap mean gene effect
- 0
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SNURF as an antibody target. Whether an autoantibody or antibody against SNURF could matter depends on whether native SNURF is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNURF 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 SNURF as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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