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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SNURF Gene

protein-coding   GIFtS: 46
GCID: GC15P025200

SNRPN upstream reading frame
 Explore 5 diseases affiliated with
SNURF via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SNURF    

Aliases
for SNURF gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SNRPN Upstream Reading Frame1 2
SNRPN Upstream Reading Frame Protein2

External Ids:    HGNC: 111711   Entrez Gene: 89262   Ensembl: ENSG000002142657   UniProtKB: Q9Y6753   

Export aliases for SNURF gene to outside databases

Previous GC identifers: GC15U990062 GC15P022616 GC15P022619 GC15P022751 GC15P025101 GC15P003336


Summaries
for SNURF gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SNURF:
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)

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


Genomic Views
for SNURF 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
 Regulatory elements:
   SABiosciences 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 plasmid: SNURF promoter sequence
   Search SABiosciences Chromatin IP Primers for SNURF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 15q12

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:
 25,245,423 bp from pter
Size:
 45,354 bases      Orientation:
 plus strand

Proteins
for SNURF gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SNURF_HUMAN, Q9Y675 (See protein sequence)
Recommended Name: SNRPN upstream reading frame protein  
Size: 71 amino acids; 8412 Da
Subcellular location: Nucleus
Miscellaneous: Encoded on a bicistronic transcript that encode 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y675

    • SNURF Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000463201   ENSP00000463396   ENSP00000342152   ENSP00000451421   ENSP00000451898  
     ENSP00000336543  

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    Uscn Proteins for SNURF

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS10318933
    GO:0005681spliceosomal complex ----
    GO:0030532small nuclear ribonucleoprotein complex ----


    SNURF for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SNURF gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SNURF for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for SNURF gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:
         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

    miRNA
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003723RNA binding ----
    GO:0005515protein binding ----


    SNURF for ontologies           About GeneDecksing



    Pathways & Interactions
    for SNURF gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Coregulation of Androgen receptor activity
    		Coregulation of Androgen receptor activity1.00


    1 BioSystems Pathway for SNURF 
        Coregulation of Androgen receptor activity


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SNURF

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

    5/15 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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0008380RNA splicing ----


    SNURF for ontologies           About GeneDecksing



    Drugs & Compounds
    for SNURF gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SNURF
    Search CenterWatch for drugs/clinical trials and news about SNURF 

    Transcripts
    for SNURF gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SNURF gene (2 alternative transcripts): 
    NM_005678.3  NM_022804.2  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000577949 ENST00000580062 ENST00000338327 ENST00000551312(uc001yxa.1)
    ENST00000557230(uc001ywz.1) ENST00000557108 ENST00000338094(uc021sga.1)


    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SNURF:
    hsa-miR-548m hsa-miR-513b hsa-miR-586
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: SNURF
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SNURF
    Clone
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    24/113 AceView cDNA sequences (see all 113):

    BU785634 BE729307 CD515578 AA312419 CA413223 BM696286 CD108960 NM_022807 
    CR623042 BC024777 AL134733 BG035818 CR620079 BM996424 BC025178 BG818337 
    AA322295 AW611979 BU625982 F08916 BQ267795 BI916318 BF725302 BQ055940 

    GeneLoc Exon Structure


    Expression
    for SNURF gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SNURF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SNURF expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SNURF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNURF

    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

        SABiosciences Custom PCR Arrays for SNURF
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNURF

    Orthologs
    for SNURF gene

    (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)
    About This Section
    This gene was present in the common ancestor of human and mouse.

    Orthologs for SNURF gene from 1/4 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
    for SNURF gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNURF gene
    SNURFL2  
    1 SIMAP similar gene for SNURF using alignment to 2 protein entries:     SNURF_HUMAN (see all proteins):
    SNURFL

    SNURF for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SNURF
    PGOHUM00000242008


    Genomic Variants
    for SNURF gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Human Gene Mutation Database (HGMD): SNURF
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SNURF
    DNA2.0 Custom Variant and Variant Library Synthesis for SNURF

    Disorders / Diseases
    for SNURF gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SNURF for disorders           About GeneDecksing

    5 diseases for SNURF:    About MalaCards
    prader-willi syndrome    angelman syndrome    testicular germ cell cancer    germ cell cancer
    breast cancer

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

    1 Novoseek 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

    Publications
    for SNURF gene

    (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)
    About This Section

    PubMed articles for SNURF gene, integrated from 9 sources (see all 22):
    (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. (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. (2005)
    3. Methylation defect in imprinted genes detected in pati ents with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. (PubMed id 22679513)1 Izzi B....Freson K. (2012)
    4. Behavioral phenotype in adults with Prader-Willi synd rome. (PubMed id 21227640)1 Sinnema M....Curfs L.M. (2011)
    5. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. (PubMed id 15014980)1 Runte M....Buiting K. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S....Malek J. (2004)

    External Searches for SNURF gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SNURF gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8926 HGNC: 11171 AceView: SNRPN Ensembl:ENSG00000214265 euGenes: HUgn8926
    ECgene: SNURF H-InvDB: SNURF

    Other Databases showing SNURF gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SNURF gene

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

    Intellectual Property
    for SNURF gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for SNURF gene

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    About This Section

     
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    VWF
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    von Willebrand factor
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