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Aliases for SNURF Gene

Aliases for SNURF Gene

  • SNRPN Upstream Reading Frame 2 3 5

External Ids for SNURF Gene

Previous GeneCards Identifiers for SNURF Gene

  • GC15U990062
  • GC15P022616
  • GC15P022619
  • GC15P022751
  • GC15P025101
  • GC15P003336
  • GC15P025200

Summaries for SNURF Gene

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 Prader-Willi Syndrome and Angelman Syndrome. Among its related pathways are Coregulation of Androgen receptor activity and mRNA Splicing - Major Pathway.

Gene Wiki entry for SNURF Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNURF Gene

Genomics for SNURF Gene

Regulatory Elements for SNURF Gene

Enhancers for SNURF Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SNURF on UCSC Golden Path with GeneCards custom track

Promoters for SNURF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SNURF on UCSC Golden Path with GeneCards custom track

Genomic Location for SNURF Gene

Chromosome:
15
Start:
24,954,923 bp from pter
End:
24,978,582 bp from pter
Size:
23,660 bases
Orientation:
Plus strand

Genomic View for SNURF Gene

Genes around SNURF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNURF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNURF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNURF Gene

Proteins for SNURF Gene

  • Protein details for SNURF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y675-SNURF_HUMAN
    Recommended name:
    SNRPN upstream reading frame protein
    Protein Accession:
    Q9Y675
    Secondary Accessions:
    • A6NCW2

    Protein attributes for SNURF Gene

    Size:
    71 amino acids
    Molecular mass:
    8412 Da
    Quaternary structure:
    No Data Available
    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.

neXtProt entry for SNURF Gene

Proteomics data for SNURF Gene at MOPED

Post-translational modifications for SNURF Gene

  • Ubiquitination at Lys 26
  • Modification sites at PhosphoSitePlus

Other Protein References for SNURF Gene

No data available for DME Specific Peptides for SNURF Gene

Domains & Families for SNURF Gene

Protein Domains for SNURF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNURF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y675

UniProtKB/Swiss-Prot:

SNURF_HUMAN :
  • Belongs to the SNURF family.
Family:
  • Belongs to the SNURF family.
genes like me logo Genes that share domains with SNURF: view

No data available for Gene Families for SNURF Gene

Function for SNURF Gene

Molecular function for SNURF Gene

GENATLAS Biochemistry:
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

Phenotypes for SNURF Gene

genes like me logo Genes that share phenotypes with SNURF: view

Animal Model Products

miRNA for SNURF Gene

miRTarBase miRNAs that target SNURF

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNURF Gene

Localization for SNURF Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNURF Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNURF Gene COMPARTMENTS Subcellular localization image for SNURF gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for SNURF Gene

Pathways & Interactions for SNURF Gene

genes like me logo Genes that share pathways with SNURF: view

Pathways by source for SNURF Gene

Interacting Proteins for SNURF Gene

Gene Ontology (GO) - Biological Process for SNURF Gene

None

No data available for SIGNOR curated interactions for SNURF Gene

Drugs & Compounds for SNURF Gene

No Compound Related Data Available

Transcripts for SNURF Gene

Alternative Splicing Database (ASD) splice patterns (SP) for SNURF Gene

No ASD Table

Relevant External Links for SNURF Gene

GeneLoc Exon Structure for
SNURF
ECgene alternative splicing isoforms for
SNURF

Expression for SNURF Gene

mRNA expression in normal human tissues for SNURF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SNURF Gene

This gene is overexpressed in Muscle - Skeletal (x4.4).

mRNA Expression by UniProt/SwissProt for SNURF Gene

Q9Y675-SNURF_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle and lymphoblasts (at protein level). Expressed in brain, pancreas, heart, liver, lung, kidney and skeletal muscle.
genes like me logo Genes that share expression patterns with SNURF: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SNURF Gene

Orthologs for SNURF Gene

This gene was present in the common ancestor of mammals.

Orthologs for SNURF Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SNURF 35
  • 92.49 (n)
  • 92.96 (a)
mouse
(Mus musculus)
Mammalia Snurf 35
  • 89.67 (n)
  • 97.18 (a)
Snurf 16
Snurf 36
  • 97 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia LOC100612044 35
  • 86.67 (n)
  • 77.14 (a)
SNURF 36
  • 100 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Snurf 35
  • 90.14 (n)
  • 94.37 (a)
Species with no ortholog for SNURF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SNURF Gene

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

Paralogs for SNURF Gene

(1) SIMAP similar genes for SNURF Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SNURF: view

No data available for Paralogs for SNURF Gene

Variants for SNURF Gene

Variation tolerance for SNURF Gene

Residual Variation Intolerance Score: 51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.01; 0.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNURF Gene

Human Gene Mutation Database (HGMD)
SNURF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Structural Variations from Database of Genomic Variants (DGV) for SNURF Gene

Disorders for SNURF Gene

MalaCards: The human disease database

(2) MalaCards diseases for SNURF Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
prader-willi syndrome
  • prader willi syndrome
angelman syndrome
  • as
- elite association - COSMIC cancer census association via MalaCards
Search SNURF in MalaCards View complete list of genes associated with diseases

Relevant External Links for SNURF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNURF
genes like me logo Genes that share disorders with SNURF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNURF Gene

Publications for SNURF Gene

  1. An imprinted, mammalian bicistronic transcript encodes two independent proteins. (PMID: 10318933) Gray T.A. … Nicholls R.D. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23 67
  2. Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. (PMID: 16116039) Rodriguez-Jato S. … Yang T.P. (Nucleic Acids Res. 2005) 3 23
  3. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3
  4. Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain. (PMID: 22511895) Naik S. … Caliebe A. (Mol Syndromol 2012) 3
  5. Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. (PMID: 22679513) Izzi B. … Freson K. (PLoS ONE 2012) 3

Products for SNURF Gene

Sources for SNURF Gene

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