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SNURF Gene

protein-coding   GIFtS: 47
GCID: GC15P025200

SNRPN Upstream Reading Frame

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
SNRPN Upstream Reading Frame1 2
SNRPN Upstream Reading Frame Protein2

External Ids:    HGNC: 111711   Entrez Gene: 89262   Ensembl: ENSG000002731737   UniProtKB: Q9Y6753   
ORGUL members:         

Export aliases for SNURF gene to outside databases

Previous GC identifers: GC15U990062 GC15P022616 GC15P022619 GC15P022751 GC15P025101 GC15P003336


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SNURF Gene:
This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading
frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear
ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a
region that has been identified as an imprinting center. Multiple transcription initiation sites have been
identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of
these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and
leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event
in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental
imprint switch failure. The function of this protein is not yet known. (provided by RefSeq, Jul 2008)

GeneCards Summary for SNURF Gene:
SNURF (SNRPN upstream reading frame) is a protein-coding gene. Diseases associated with SNURF include albright's hereditary osteodystrophy, and prader-willi syndrome.

Gene Wiki entry for SNURF (SNRPN upstream reading frame protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SNURF gene promoter:
         Nkx3-1 v2   Nkx3-1   Nkx3-1 v4   AP-1   Nkx3-1 v3   MyoD   Nkx3-1 v1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNURF promoter sequence
   Search Chromatin IP Primers for SNURF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNURF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q12   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11.2

SNURF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNURF gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P025200:  view genomic region     (about GC identifiers)

Start:
25,200,070 bp from pter      End:
25,223,729 bp from pter
Size:
23,660 bases      Orientation:
plus strand

1 alternative location:
Chr15+ 25,200,181-25,245,423     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SNURF_HUMAN, Q9Y675 (See protein sequence)
Recommended Name: SNRPN upstream reading frame protein  
Size: 71 amino acids; 8412 Da
Miscellaneous: Encoded on a bicistronic transcript that code for two proteins, SNRPN and SNURF. In addition to the
primary 1.6-kb bicistronic SNURF-SNRPN transcript, SNURF-only transcript is also detected
Secondary accessions: A6NCW2

Explore the universe of human proteins at neXtProt for SNURF: NX_Q9Y675

Explore proteomics data for SNURF at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys26
  • Modification sites at PhosphoSitePlus

  • See SNURF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005669.2  NP_073715.1  

    ENSEMBL proteins: 
     ENSP00000463201   ENSP00000463396   ENSP00000342152   ENSP00000336543  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009847 SNURF

    Graphical View of Domain Structure for InterPro Entry Q9Y675

    ProtoNet protein and cluster: Q9Y675

    UniProtKB/Swiss-Prot: SNURF_HUMAN, Q9Y675
    Similarity: Belongs to the SNURF family


    SNURF for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for SNURF:
    SNRPN upstream reading frame,expressed along and conjointly with SNRPN in a bicistronic transcript,missing in
    Prader Willi syndrome,paternally expressed,maternally imprinted,associated with a nuclear matrix attachment (MAR)
    sequence

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    SNURF for ontologies           About GeneDecksing


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    hsa-mir-26b-5p (MIRT030233)

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    hsa-miR-548m hsa-miR-513b hsa-miR-586
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SNURF_HUMAN, Q9Y675: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS10318933

    SNURF for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SNURF About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA processing0.44
    2Gastric cancer network 2
    Gastric cancer network 2
    3Coregulation of Androgen receptor activity
    Coregulation of Androgen receptor activity


    3 BioSystems Pathways for SNURF
        mRNA processing
    Gastric cancer network 2
    Coregulation of Androgen receptor activity



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SNURF
    Interactions:

        Search GeneGlobe Interaction Network for SNURF

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    Selected Interacting proteins for SNURF (Q9Y6752, 3 ENSP000003365434) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL4DP497032, 3MINT-63797 I2D: score=1 
    LRIF1Q5T3J32, 3MINT-65862 I2D: score=1 
    SH3GL3Q999632, 3MINT-65861 I2D: score=1 
    TP53P046372, 3MINT-65860 I2D: score=1 
    SP1P080473I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    SNURF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SNURF



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SNURF gene (2 alternative transcripts): 
    NM_005678.3  NM_022804.2  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000577949 ENST00000580062 ENST00000338327 ENST00000338094(uc021sga.1)

    miRNA
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    hsa-miR-548m hsa-miR-513b hsa-miR-586
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    Inhib. RNA
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    Selected AceView cDNA sequences (see all 113):

    BU627887 CD107675 CD515578 U41303 F29951 BU075724 BQ641535 AI652762 
    AI654924 CR597560 AI825170 AU126343 CF128446 BU845746 CF130650 NM_022804 
    BM696286 BC025178 BU785634 BU196246 CD512923 BC003180 F08916 CR595630 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SNURF expression in normal human tissues (normalized intensities)      SNURF embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SNURF Expression
    About this image


    SNURF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    SNURF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNURF Protein Expression

    UniProtKB/Swiss-Prot: SNURF_HUMAN, Q9Y675
    Tissue specificity: Expressed in heart, skeletal muscle and lymphoblasts (at protein level). Expressed in brain,
    pancreas, heart, liver, lung, kidney and skeletal muscle

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for SNURF gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snurf1 , 5 SNRPN upstream reading frame1, 5 89.67(n)1
    97.18(a)1
      7 (34.04 cM)5
    847041  NM_033174.31  NP_149409.11 
     599954495 


    ENSEMBL Gene Tree for SNURF (if available)
    TreeFam Gene Tree for SNURF (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNURF gene
    1 SIMAP similar gene for SNURF using alignment to 2 protein entries:     SNURF_HUMAN (see all proteins):
    SNURFL

    SNURF for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Human Gene Mutation Database (HGMD): SNURF
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SNURF
    DNA2.0 Custom Variant and Variant Library Synthesis for SNURF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    5 diseases for SNURF:    About MalaCards
    albright's hereditary osteodystrophy    prader-willi syndrome    germ cell cancer    angelman syndrome
    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for SNURF:
    Prader-Willi syndrome     Angelman syndrome

    SNURF for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SNURF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prader-willi syndrome 81.1 1 10626556 (1)


    Export disorders for SNURF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SNURF gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with SNURF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An imprinted, mammalian bicistronic transcript encodes two independent proteins. (PubMed id 10318933)1, 2, 3, 9 Gray T.A.... Nicholls R.D. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. (PubMed id 16116039)1, 9 Rodriguez-Jato S....Yang T.P. (Nucleic Acids Res. 2005)
    3. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    4. Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain. (PubMed id 22511895)1 Naik S....Caliebe A. (Mol Syndromol 2012)
    5. Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. (PubMed id 22679513)1 Izzi B....Freson K. (PLoS ONE 2012)
    6. Behavioral phenotype in adults with Prader-Willi syndrome. (PubMed id 21227640)1 Sinnema M....Curfs L.M. (Res Dev Disabil 2011)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    9. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8926 HGNC: 11171 AceView: SNRPN Ensembl:ENSG00000273173 euGenes: HUgn8926
    ECgene: SNURF H-InvDB: SNURF

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SNURF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SNURF Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SNURF gene:
    Search GeneIP for patents involving SNURF

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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