Homo sapiens Gene: SNURF | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-234181.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | SNURF | ||||||||||||||||||
Gene Name | SNRPN upstream reading frame | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000214265 | ||||||||||||||||||
Encoded Proteins |
SNRPN upstream reading frame
SNRPN upstream reading frame
SNRPN upstream reading frame
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
Small nucleolar RNAs (snoRNAs) are small non-coding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in a cluster of genes including the SNURF-SNRPN gene, which serves as a host for multiple snoRNAs. [provided by RefSeq, Oct 2011] The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008] 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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 15:24955034-25000276 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q11.2 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
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Gene ID
Gene Order
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Pathways | |||||||||||||||||||
NETPATH |
AndrogenReceptor pathway
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REACTOME | |||||||||||||||||||
KEGG | |||||||||||||||||||
INOH | |||||||||||||||||||
PID NCI |
Coregulation of Androgen receptor activity
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Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | Hs.733072 Hs.743549 | ||||||||||||||||||
RefSeq | NM_005678 NM_022804 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS10016 | ||||||||||||||||||
HPRD | 18083 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||