RNU1-1 RNA, U1 small nuclear 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNU1-1provided by HGNC
Official Full Name: RNA, U1 small nuclear 1provided by HGNC
Primary source: HGNC:HGNC:10120
See related: Ensembl:ENSG00000206652 AllianceGenome:HGNC:10120
Gene type: snRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: U1; HSD1; RNU1; U1A1; HU1-1; RNU1A; RNU1A3; RNU1G4; Rnu1a1
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Genomic context

Location:: 1p36.13

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (16514122..16514285, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (15955819..15955982, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (16840617..16840780, complement)

Chromosome 1 - NC_000001.11 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?

Structural insights into recognition of SL4, the UUCG stem-loop, of human U1 snRNA by the ubiquitin-like domain, including the C-terminal tail in the SF3A1 subunit of U2 snRNP.
Title: Structural insights into recognition of SL4, the UUCG stem-loop, of human U1 snRNA by the ubiquitin-like domain, including the C-terminal tail in the SF3A1 subunit of U2 snRNP.
The authors show that U1 telescripting is selectively required for sustaining long-distance transcription elongation in introns of large genes (median 39 kb).
Title: U1 snRNP telescripting regulates a size-function-stratified human genome.
We found that only the modified U1 snRNA (IVS-AAA) that completely matched both the intronic and exonic U1 binding sequences of the mutated DDC gene could correct splicing errors of either the mutated human DDC minigene or the mouse artificial splicing construct in vitro
Title: Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
An imbalance in the vU1/U1 ratio, rather than an overall reduction in Uridyl-rich (U)-snRNAs, may contribute to the specific neuromuscular disease phenotype associated with spinal muscular atrophy.
Title: Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease.
Human U1 snRNA variants are unable to efficiently bind U1 snRNP proteins.
Title: U1 small nuclear RNA variants differentially form ribonucleoprotein particles in vitro.
Authors propose that U1 shortage causes transcript shortening because, as cotranscriptional recruitment of U1 to nascent transcripts becomes limiting, it leaves distal polyadenylation signals less protected, providing a built-in and U1 dose-dependent mechanism for mRNA length regulation and isoform switching.
Title: U1 snRNP determines mRNA length and regulates isoform expression.
U1 snRNA directly interacts with polypyrimidine tract-binding protein during splicing repression
Title: U1 snRNA directly interacts with polypyrimidine tract-binding protein during splicing repression.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Other Names

RNA, U1A small nuclear
RNA, U1A3 small nuclear
RNA, U1G4 small nuclear

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.