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

    Gene ID: 503542, updated on 2-Nov-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 extracellular region and plasma membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 10.6), duodenum (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPRN in Genome Data Viewer
    Location:
    10q26.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133420666..133424625, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134375591..134379547, complement)
    RS_2024_09 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 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_2024_08

    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.

    Other Literature Sources
    Chemical Information
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