Summary of SNRPN
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.
mRNA/Genomic Alignments SIZE IDENTITY CHROMOSOME STRAND START END QUERY START END TOTAL
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1616 100.0% 15 + 22619887 22774822 NM_022806 1 1616 1616
Position: chr15:22619887-22774822
Band: 15q11.2
Genomic Size: 154936
Strand: +
Links to sequence:
View table schema
Description
The RefSeq Genes track shows known protein-coding genes taken from
the NCBI mRNA reference sequences collection (RefSeq). On assemblies in
which incremental GenBank downloads are supported, the data underlying this
track are updated nightly.
Display Conventions and Configuration
This track follows the display conventions for
gene prediction
tracks.
The color shading indicates the level of review the RefSeq record has
undergone: predicted (light), provisional (medium), reviewed (dark).
In some assemblies, non-coding RNA genes are shown in a separate track.
The item labels and display colors of features within this track can be
configured through the controls at the top of the track description page.
This page is accessed via the small button to the left of the track's
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- Label: By default, items are labeled by gene name. Click the
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- Codon coloring: This track contains an optional codon coloring
feature that allows users to quickly validate and compare gene predictions.
To display codon colors, select the genomic codons option from the
Color track by codons pull-down menu. Click
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Methods
RefSeq mRNAs were aligned against the human genome using blat; those
with an alignment of less than 15% were discarded. When a single mRNA
aligned in multiple places, the alignment having the highest base identity
was identified. Only alignments having a base identity level within 0.1% of
the best and at least 96% base identity with the genomic sequence were kept.
Credits
This track was produced at UCSC from mRNA sequence data
generated by scientists worldwide and curated by the
NCBI RefSeq project.
References
Kent, W.J.
BLAT - the BLAST-like alignment tool.
Genome Res. 12(4), 656-664 (2002).
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