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SPRN shadow of prion protein [ Homo sapiens (human) ]

Gene ID: 503542, updated on 5-Mar-2024

Summary

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Official Symbol
SPRNprovided by HGNC
Official Full Name
shadow of prion proteinprovided by HGNC
Primary source
HGNC:HGNC:16871
See related
Ensembl:ENSG00000203772 MIM:610447; AllianceGenome:HGNC:16871
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SHO; SHADOO; bA108K14.1
Summary
Predicted to enable nucleic acid binding activity. Predicted to be involved in protein import into nucleus. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 10.6), duodenum (RPKM 4.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10q26.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133420666..133424625, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134375591..134379547, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (135234170..135238129, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135191859-135192358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2979 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:135202015-135202172 Neighboring gene Sharpr-MPRA regulatory region 11835 Neighboring gene polyamine oxidase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2982 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135208387-135209341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4251 Neighboring gene mitochondrial ribosome associated GTPase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135236507-135237126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135237945-135238452 Neighboring gene uncharacterized LOC124902564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4252 Neighboring gene olfactory receptor family 6 subfamily L member 2 pseudogene Neighboring gene MPRA-validated peak1138 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4253 Neighboring gene scavenger receptor family member expressed on T cells 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Disruption of glycosylation enhances ubiquitin-mediated proteasomal degradation of Shadoo in Scrapie-infected rodents and cultured cells. Zhang J, et al. Mol Neurobiol, 2014 Jun. PMID 24390475
  2. Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease. Beck JA, et al. J Med Genet, 2008 Dec. PMID 18805828, Free PMC Article
  3. A novel solid phase technology for high-throughput gene synthesis. Van den Brulle J, et al. Biotechniques, 2008 Sep. PMID 18778261
  4. Conserved stress-protective activity between prion protein and Shadoo. Sakthivelu V, et al. J Biol Chem, 2011 Mar 18. PMID 21257747, Free PMC Article
  5. Shadoo, a new protein highly conserved from fish to mammals and with similarity to prion protein. Premzl M, et al. Gene, 2003 Sep 18. PMID 14527721

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Shadoo is degraded in Scrapie-infected rodents and cultured cells mediated by proteasome degradation after modification by ubiquitination.
    Title: Disruption of glycosylation enhances ubiquitin-mediated proteasomal degradation of Shadoo in Scrapie-infected rodents and cultured cells.
  2. a conserved physiological activity between PrP(C) and Sho to protect cells from stress-induced toxicity and suggests that Sho and PrP(C) might act on similar signaling pathways.
    Title: Conserved stress-protective activity between prion protein and Shadoo.
  3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease
    Title: Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease.
  6. A novel solid phase technology for high- throughput synthesis of the SPRN gene is reported.
    Title: A novel solid phase technology for high-throughput gene synthesis.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ41197

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nucleic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in side of membrane IEA
Inferred from Electronic Annotation
more info
  
located_in vesicle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
shadow of prion protein
Names
hypothetical protein BC004409
protein shadoo
shadow of prion protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001012508.6 → NP_001012526.2  shadow of prion protein precursor

    See identical proteins and their annotated locations for NP_001012526.2

    Status: VALIDATED

    Source sequence(s)
    AL161645
    Consensus CDS
    CCDS53589.1
    UniProtKB/Swiss-Prot
    Q5BIV9
    Related
    ENSP00000433712.1, ENST00000414069.2
    Conserved Domains (1) summary
    pfam14999
    Location:47 → 138
    Shadoo; Shadow of prion protein, neuroprotective

  2. NM_001391974.1 → NP_001378903.1  shadow of prion protein precursor

    Status: VALIDATED

    Source sequence(s)
    AL161645
    Consensus CDS
    CCDS53589.1
    UniProtKB/Swiss-Prot
    Q5BIV9
    Related
    ENSP00000510252.1, ENST00000685335.1
    Conserved Domains (1) summary
    pfam14999
    Location:47 → 138
    Shadoo; Shadow of prion protein, neuroprotective

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    133420666..133424625 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    134375591..134379547 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5BIV9.1 GenPept UniProtKB/Swiss-Prot:Q5BIV9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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