SNORD115-1 small nucleolar RNA, C/D box 115-1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNORD115-1provided by HGNC
Official Full Name: small nucleolar RNA, C/D box 115-1provided by HGNC
Primary source: HGNC:HGNC:33020
See related: Ensembl:ENSG00000201831 MIM:609837; AllianceGenome:HGNC:33020
Gene type: snoRNA
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RNHBII52; HBII-52-1
Summary: This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq, Jul 2008]
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Genomic context

Location:: 15q11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (25170723..25170804)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (22907393..22907474)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (25415870..25415951)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SNORD115-1 gene is imprinted, with preferential expression from the paternal allele in the brain.
Title: Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization.
The likely evolutionary history of the HBII-52 cluster and SNORD119 and suggest that they have evolved from a common ancestor, is constructed.
Title: Molecular evolution of the HBII-52 snoRNA cluster.
results show that a snoRNA regulates the processing of an mRNA expressed from a gene located on a different chromosome, and the results indicate that a defect in pre-mRNA processing contributes to the Prader-Willi syndrome
Title: The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C.
Since the complete loss of the HBII-52 genes in family members who carry the deletion on their paternal chromosome is not associated with an obvious clinical phenotype, we conclude that HBII-52 snoRNA genes do not play a major role in PWS.
Title: Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Prader-Willi syndrome MedGen: C0032897 OMIM: 176270 GeneReviews: Prader-Willi Syndrome	Compare labs

Variation

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General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in RNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleolus	IEA Inferred from Electronic Annotation more info

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.