RNU1-4 RNA, U1 small nuclear 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNU1-4provided by HGNC
Official Full Name: RNA, U1 small nuclear 4provided by HGNC
Primary source: HGNC:HGNC:10128
See related: Ensembl:ENSG00000207389 MIM:180680; AllianceGenome:HGNC:10128
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: U1F; HSD2; HSD5; HSD6; HSD7; RNU1; U1B2; U1D2; U1E2; RNU1D2; RNU1E2; RNU1F1; RNU1G1; RNU1G2
Summary: Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Oct 2024]
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Genomic context

Location:: 1p36.13

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (16740516..16740679)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (16463454..16463617)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (17067011..17067174)

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?

Study demonstrates that some atypical 5' splice site are actually efficiently recognized by U1, in an alternative base-pairing register that is shifted by one nucleotide.
Title: Recognition of atypical 5' splice sites by shifted base-pairing to U1 snRNA.
Analysis of inhibitory action of modified U1 snRNAs on target gene expression: discrimination of two RNA targets differing by a 1 bp mismatch.
Title: Analysis of inhibitory action of modified U1 snRNAs on target gene expression: discrimination of two RNA targets differing by a 1 bp mismatch.
Endogenous non-snRNP associated U1A inhibits poly(A) polymerase activity proportional to U1A recovered, suggesting that available U1A level alone is responsible for changes in its inhibitory effect at the secretory IgM poly (A) site.
Title: Non-snRNP U1A levels decrease during mammalian B-cell differentiation and release the IgM secretory poly(A) site from repression.
we found that particular amino acids associate with one activity but not another, in 3 mutant proteins, these activities were improved upon, suggesting that U1A autoregulation is selected for suboptimal inhibitory efficiency.
Title: Determinants within an 18-amino-acid U1A autoregulatory domain that uncouple cooperative RNA binding, inhibition of polyadenylation, and homodimerization.
CRYAB localized with snRNP U1A.
Title: Nuclear speckle localisation of the small heat shock protein alpha B-crystallin and its inhibition by the R120G cardiomyopathy-linked mutation.
structure and binding of U1A to U1 hairpin II RNA
Title: Complex role of the beta 2-beta 3 loop in the interaction of U1A with U1 hairpin II RNA.

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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

See Variation Viewer (GRCh37.p13)

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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, U1D2 small nuclear
RNA, U1E2 small nuclear
RNA, U1F1 small nuclear
RNA, U1G1 small nuclear
RNA, U1G2 small nuclear

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables pre-mRNA 5'-splice site binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in mRNA 5'-splice site recognition	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of U1 snRNP	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.